Updated on 2024/04/30

写真a

 
TAKEICHI Takuya
 
Organization
Graduate School of Medicine Program in Integrated Medicine Biomedical Regulation Associate professor
Graduate School
Graduate School of Medicine
Undergraduate School
School of Medicine Department of Medicine
Title
Associate professor

Degree 1

  1. 博士(医学) ( 2010.9   名古屋大学 ) 

Research Interests 6

  1. 膿疱性乾癬

  2. 自己炎症性角化症

  3. 角化症

  4. 遺伝性皮膚疾患

  5. 魚鱗癬

  6. 乳房外Paget病

Research Areas 4

  1. Life Science / Dermatology

  2. Life Science / Genetics

  3. Life Science / Genetics

  4. Life Science / Dermatology

Current Research Project and SDGs 2

  1. 自己炎症性角化症の多角的な病因解析

  2. 完全な炎症制御による先天性魚鱗癬の克服

Research History 5

  1. Nagoya University   Graduate School of Medicine   Associate professor

    2023.4

  2. Nagoya University   Part-time faculty member

    2022.4

  3. 名古屋大学高等研究院

    2022.4

  4. Nagoya University   Graduate School of Medicine   Lecturer

    2019.10 - 2023.3

  5. Nagoya University   Hospital   Assistant Professor

    2016.4 - 2019.9

Professional Memberships 2

  1. 日本皮膚免疫アレルギー学会

    2022

  2. 加齢皮膚医学研究会

Committee Memberships 4

  1. 日本研究皮膚科学会   JSID将来計画検討委員  

    2023.6 - 2024.3   

  2. 日本研究皮膚科学会   若手理事  

    2021   

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    Committee type:Academic society

  3. 日本研究皮膚科学会   若手セミナー委員  

    2019   

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    Committee type:Academic society

  4. 日本研究皮膚科学会   評議員  

    2014   

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    Committee type:Academic society

Awards 15

  1. Sun Pharma RISING SUN AWARD 2023

    2023.11   To discover and identify novel genetic pathomechanisms of ichthyoses and keratinization disorders

  2. Top Reviewer Awards 2021 in the Journal of Dermatology

    2022.6  

  3. 令和3年度日本皮膚科学会 皆見省吾記念賞

    2021  

    武市 拓也

  4. 第1回若手日本研究皮膚科学会賞

    2020  

    武市 拓也

  5. 令和2年度皮膚医学研究基金(ロート製薬寄付)

    2020  

    武市 拓也

  6. Top Reviewer Awards 2019 in the Journal of Dermatology

    2020  

    武市 拓也

  7. 第19回ガルデルマ・マルホ研究賞

    2019  

    武市 拓也

  8. The Japanese Society for Investigative Dermatology Fellowship Shiseido Research Grant 2019

    2019  

    Takuya Takeichi

  9. The Journal of Cutaneous Immunology and Allergy 2018年度最優秀論文賞

    2019   日本皮膚免疫アレルギー学会  

    武市 拓也

  10. The awardee for Most Cited Articles 2018 in the Journal of Dermatology

    2018  

    Takuya Takeichi

  11. 鳥居・帝國乾癬研究奨励賞 研究奨励部門

    2017.9   日本乾癬学会   乾癬患者を対象としたリピドミクス研究

    武市 拓也

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    Award type:Award from Japanese society, conference, symposium, etc.  Country:Japan

  12. ラロッシュポゼ アジア-パシフィック基金

    2017.2   日本ロレアル株式会社  

    Takuya Takeichi

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    Award type:International academic award (Japan or overseas)  Country:Japan

  13. 第7回日本乾癬学会「鳥居・帝國乾癬研究奨励賞」<研究奨励部門>

    2017  

    武市 拓也

  14. The awardee for Most Downloaded Articles 2017 in the Journal of Dermatology

    2017  

    Takuya Takeichi

  15. The awardee for Most Cited Articles 2017 in the Journal of Dermatology

    2017  

    Takuya Takeichi

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Papers 196

  1. Combined oral lichen planus and oral lichenoid contact hypersensitivity reaction in a patient with Hashimoto's thyroiditis

    Suzuki S., Yamashita Y., Fujio M., Hanai Y., Koizumi H., Ogawa-Momohara M., Takeichi T., Muro Y., Akiyama M.

    Oral Oncology Reports   Vol. 10   2024.6

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    Publisher:Oral Oncology Reports  

    DOI: 10.1016/j.oor.2024.100356

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  2. Exploring patient background and biomarkers associated with the development of dupilumab-associated conjunctivitis and blepharitis. Reviewed International journal

    Makiko Kido-Nakahara, Daisuke Onozuka, Kenji Izuhara, Hidehisa Saeki, Satoshi Nunomura, Motoi Takenaka, Mai Matsumoto, Yoko Kataoka, Rai Fujimoto, Sakae Kaneko, Eishin Morita, Akio Tanaka, Ryo Saito, Tatsuro Okano, Tomomitsu Miyagaki, Natsuko Aoki, Kimiko Nakajima, Susumu Ichiyama, Kyoko Tonomura, Yukinobu Nakagawa, Risa Tamagawa-Mineoka, Koji Masuda, Takuya Takeichi, Masashi Akiyama, Yozo Ishiuji, Michie Katsuta, Yuki Kinoshita, Chiharu Tateishi, Aya Yamamoto, Akimichi Morita, Haruna Matsuda-Hirose, Yutaka Hatano, Hiroshi Kawasaki, Ayano Fukushima-Nomura, Mamitaro Ohtsuki, Koji Kamiya, Yudai Kabata, Riichiro Abe, Hiroshi Mitsui, Tatsuyoshi Kawamura, Gaku Tsuji, Masutaka Furue, Norito Katoh, Takeshi Nakahara

    Allergology international : official journal of the Japanese Society of Allergology   Vol. 73 ( 2 ) page: 332 - 334   2024.4

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  3. Pneumocystis pneumonia in a patient with severe generalized pustular psoriasis treated with biologics. Reviewed International journal

    Haruka Noguchi, Takuya Takeichi, Shunsaku Hayai, Masato Yoshikawa, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 51 ( 4 ) page: e112 - e114   2024.4

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  4. MEFV variants are a predisposing factor for generalized pustular psoriasis. Reviewed International journal

    Takenori Yoshikawa, Takuya Takeichi, Kazuki Nishida, Yumiko Kobayashi, Hozumi Sano, Akitaka Shibata, Haruka Koizumi, Reiko Tsutsumi, Ryo Fukaura, Masahiro Hayashi, Akiko Imanishi, Kenta Nakamura, Yasutomo Mikoshiba, Eisaku Ogawa, Shinya Sano, Manao Kinoshita, Takashi Okamoto, Reiko Kageyama, Yuko Sano, Sakae Kaneko, Jun Aoi, Toshihide Hara, Yaei Togawa, Mari Kishibe, Yuichi Yoshida, Hiroaki Yagi, Tetsuya Honda, Kazumitsu Sugiura, Shigetoshi Sano, Tamio Suzuki, Tomoo Ogi, Yoshinao Muro, Masashi Akiyama

    Journal of the American Academy of Dermatology   Vol. 90 ( 4 ) page: 852 - 854   2024.4

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jaad.2023.10.070

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  5. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with <i>ABCA12</i> pathogenic variants

    Noda, T; Takeichi, T; Tanahashi, K; Ogawa, Y; Takeuchi, S; Yoshikawa, T; Toriyama, E; Ashida, M; Imakado, S; Tsuchihashi, H; Okamoto, T; Okuno, Y; Ogi, T; Sugiura, K; Kubo, A; Muro, Y; Suga, Y; Ishida-Yamamoto, A; Akiyama, M

    EXPERIMENTAL DERMATOLOGY   Vol. 33 ( 4 ) page: e15072   2024.4

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    Language:English   Publisher:Experimental Dermatology  

    Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in ABCA12 and to update genotype–phenotype correlations for patients with pathogenic ABCA12 variants. Pathogenic variants in ABCA12 were detected using Sanger sequencing or a combination of Sanger sequencing and whole-exome sequencing. To verify the pathogenicity of a previously unreported large deletion and intron variant, cDNA analysis was performed using total RNA extracted from hair roots. Genetic analyses were performed on the patients with CIE, LI, HI and non-congenital ichthyosis with unusual phenotypes (NIUP), and 11 previously unreported ABCA12 variants were identified. Sequencing of cDNA confirmed the aberrant splicing of the variant ABCA12 in the patients with the previously unreported large deletion and intron variant. Our findings expand the phenotype spectrum of ichthyosis patients with ABCA12 pathogenic variants. The present missense variants in ABCA12 are considered to be heterogenous in pathogenicity, and they lead to varying disease severities in patients with ARCI and non-congenital ichthyosis with unusual phenotypes (NIUP).

    DOI: 10.1111/exd.15072

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  6. A novel splicing CYLD variant associated with trichoepithelioma papulosum multiplex demonstrating intrafamilial severity variability. Reviewed International journal

    Ryo Fukaura, Takuya Takeichi, Tatsuhiro Noda, Mariko Seishima, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology     2024.3

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  7. Increased JAK activation in cutaneous vasculitis. Reviewed International journal

    Aoi Ebata, Mariko Ogawa-Momohara, Ryo Fukaura, Yuta Yamashita, Haruka Koizumi, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    Journal of the American Academy of Dermatology   Vol. 90 ( 3 ) page: 627 - 629   2024.3

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1016/j.jaad.2023.10.056

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  8. Correlation of serum allergen-specific IgE with total serum IgE and IgE specific to other allergens in Atopic dermatitis patients. Reviewed International journal

    Norika Akashi, Mariko Ogawa-Momohara, Tomoki Taki, Ryo Fukaura, Keiko Wakahara, Satoshi Kamiya, Yuta Yamashita, Haruka Koizumi, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    Journal of the European Academy of Dermatology and Venereology : JEADV     2024.2

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  9. Panniculitis on the trunk as a possible characteristic feature of anti-SAE1/2 antibody-positive dermatomyositis: A possible cutaneous manifestation of treatment resistance. Reviewed International journal

    Mahori Tago, Haruka Koizumi, Satoshi Kamiya, Norika Akashi, Akira Miyazaki, Yuta Yamashita, Mariko Ogawa-Momohara, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology     2024.2

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  10. Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14. Reviewed International journal

    Miyu Misaki, Takuya Takeichi, Michiya Omi, Yasutoshi Ito, Tomoo Ogi, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology     2024.2

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    Authorship:Corresponding author   Language:English  

    DOI: 10.1111/1346-8138.17165

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  11. The ability of biomarkers to assess the severity of atopic dermatitis. Reviewed International journal

    Takeshi Nakahara, Daisuke Onozuka, Satoshi Nunomura, Hidehisa Saeki, Motoi Takenaka, Mai Matsumoto, Yoko Kataoka, Rai Fujimoto, Sakae Kaneko, Eishin Morita, Akio Tanaka, Ryo Saito, Tatsuro Okano, Tomomitsu Miyagaki, Natsuko Aoki, Kimiko Nakajima, Susumu Ichiyama, Makiko Kido-Nakahara, Kyoko Tonomura, Yukinobu Nakagawa, Risa Tamagawa-Mineoka, Koji Masuda, Takuya Takeichi, Masashi Akiyama, Yozo Ishiuji, Michie Katsuta, Yuki Kinoshita, Chiharu Tateishi, Aya Yamamoto, Akimichi Morita, Haruna Matsuda-Hirose, Yutaka Hatano, Hiroshi Kawasaki, Ayano Fukushima-Nomura, Mamitaro Ohtsuki, Koji Kamiya, Yudai Kabata, Riichiro Abe, Hiroshi Mitsui, Tatsuyoshi Kawamura, Gaku Tsuji, Norito Katoh, Masutaka Furue, Kenji Izuhara

    The journal of allergy and clinical immunology. Global   Vol. 3 ( 1 ) page: 100175 - 100175   2024.2

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    BACKGROUND: To develop precision medicine for atopic dermatitis (AD), it is critical to establish relevant biomarkers. However, the characteristics of various biomarkers have not been fully understood. We previously carried out the Biomarkers to Predict Clinical Improvement of AD in Patients Treated with Dupilumab (B-PAD) study, a comprehensive nationwide study in Japan, to explore biomarkers for AD. OBJECTIVE: The aim of this study is to find biomarkers associated with objective and subjective clinical findings in patients with moderate-to-severe AD based on the B-PAD study and to identify biomarkers sensitive enough to assess the severity of AD. METHODS: We performed the B-PAD study as a consortium composed of 19 medical facilities in Japan, enrolling 110 patients with moderate-to-severe AD. We evaluated the Eczema Area and Severity Index (EASI) for objective assessment as well as the Patient-Oriented Eczema Measure (POEM) and a numeric rating scale for pruritus (pruritis-NRS) for subjective assessment, measuring 19 biomarkers at baseline. RESULTS: We found that 12, 6, and 7 biomarkers showed significant and positive associations with the EASI, POEM, and pruritis-NRS, respectively. Most of the biomarkers associated with either the POEM or the pruritis-NRS were included among the biomarkers associated with EASI. Of the biomarkers examined, CCL26/eotaxin-3 and SCCA2 were the most capable of assessing severity for EASI, as shown by the 2 kinds of receiver operating characteristic analyses, respectively, whereas lactate dehydrogenase was the best for both the POEM and pruritis-NRS, again using the 2 analyses. CONCLUSION: We found biomarkers associated with the EASI, POEM, and pruritis-NRS, respectively, based on the B-PAD study. Moreover, we identified CCL26/eotaxin-3 and/or SCCA2 as the biomarkers having the greatest ability to assess severity in the EASI; lactate dehydrogenase did the same for the POEM and pruritis-NRS. These findings will be useful in treating patients with moderate-to-severe AD.

    DOI: 10.1016/j.jacig.2023.100175

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  12. Dual clinical features of fine and rough scales seen in a combined ichthyosis vulgaris and X-linked recessive ichthyosis patient with atopic dermatitis. Reviewed International journal

    Yoshimasa Nakane, Takenori Yoshikawa, Takuya Takeichi, Michihiro Kono, Masashi Akiyama

    The Journal of dermatology   Vol. 51 ( 2 ) page: e49 - e50   2024.2

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  13. Cross-sectional nationwide epidemiologic survey on quality of life and treatment efficacy in Japanese patients with congenital ichthyoses. Reviewed International journal

    Yuika Suzuki, Kana Tanahashi, Chiaki Terashima-Murase, Takuya Takeichi, Yumiko Kobayashi, Fumie Kinoshita, Masashi Akiyama

    Journal of dermatological science   Vol. 113 ( 1 ) page: 2 - 9   2024.1

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    BACKGROUND: Congenital ichthyoses sometimes present with severe skin symptoms that significantly affect the patient's quality of life (QOL). Symptomatic treatments are the mainstay therapies, and their efficacy is limited and inadequate. OBJECTIVE: To assess the disease severity and QOL in patients with congenital ichthyoses, and to investigate the effectiveness of current treatments. METHODS: We conducted a questionnaire-based Japan-wide epidemiological survey of patients with congenital ichthyosis who received medical care from 1 January 2016-31 December 2020. Effectiveness of past and current treatments was assessed. The outcomes were the physician's assessment, disease severity assessed using the clinical ichthyosis score (CIS), and the disease burden estimated using the Dermatology Life Quality Index (DLQI), the Children's Dermatology Life Quality Index (CDLQI), and the Infants' Dermatitis Quality of Life Index. RESULTS: One hundred patients with 14 ichthyosis subtypes from 47 institutes were included in the final analysis. The CDLQI score showed a positive correlation with CIS (rs = 0.59, p = 0.004), while the DLQI score showed no significant correlation (rs = 0.13, p = 0.33). All existing medications were effective for many patients. Etretinate improved QOL and reduced CIS, but side effects including bone growth retardation were reported. Decreased treatment willingness was observed in patients with very low and very high CIS. CONCLUSION: QOL scores were found to correlate with CIS in children, but not in adults. Considering the adverse events, it is speculated that etretinate is not indicated for children with mild cases. Petrolatum was the most commonly used medication, even in patients who were reluctant to receive treatment.

    DOI: 10.1016/j.jdermsci.2023.11.002

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  14. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. Reviewed International journal

    Takuya Takeichi, Takahiro Hamada, Mayuko Yamamoto, Yasutoshi Ito, Aya Kawaguchi, Haruka Kobashi, Takenori Yoshikawa, Hiroshi Koga, Norito Ishii, Takekuni Nakama, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

    The Journal of dermatology   Vol. 51 ( 1 ) page: 101 - 105   2024.1

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)  

    Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic variants in ABCA12 are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an ABCA12 variant but did not show a "congenital" phenotype. They were considered to have pityriasis rubra pilaris (PRP). Here, we present a further patient with ABCA12 variants whose phenotype was not congenital ichthyosis, in an independent family. Notably, these three patients had geographic unaffected areas. Such areas are not usually found in patients with ARCI who have ABCA12 variants, suggesting mild phenotypes for these patients. Interestingly, the histological features of the ichthyotic lesions in these patients resembled those of PRP. All three patients had homozygous pathogenic missense variants in ABCA12. Our findings expand the phenotypic spectrum of patients with ABCA12 variants.

    DOI: 10.1111/1346-8138.16967

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  15. Generalized pustular psoriasis that developed in a patient with an NFKB2 variant. Reviewed International journal

    Shogo Wada, Takeshi Namiki, Aoi Ebata, Takuya Takeichi, Masashi Akiyama, Masafumi Yamada, Atsushi Hijikata, Yutaka Shimomura, Hirokazu Kanegane, Naoko Okiyama

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG   Vol. 22 ( 1 ) page: 118 - 120   2023.12

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  16. Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex. Reviewed International journal

    Maiko Shimomura-Ishihara, Takuya Takeichi, Tatsuhiro Noda, Haruka Koizumi, Teruyuki Mitsuma, Tomoo Ogi, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology     2023.12

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    Authorship:Corresponding author   Language:English  

    DOI: 10.1111/1346-8138.17073

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  17. Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations. Reviewed International journal

    Michiya Omi, Takuya Takeichi, Yasutoshi Ito, Takenori Yoshikawa, Yuki Mizutani, Miki Nagai, Mariko Seishima, Tomoo Ogi, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology     2023.12

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    Authorship:Corresponding author   Language:English  

    DOI: 10.1111/1346-8138.17081

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  18. ELISA detection of anti-eIF2B antibodies in Japanese patients with systemic sclerosis. Reviewed International journal

    Haruka Koizumi, Yasuhiko Yamano, Yoshinao Muro, Ryo Fukaura, Yuta Yamashita, Satoshi Kamiya, Norika Akashi, Mariko Ogawa-Momohara, Takuya Takeichi, Yasuhiro Kondoh, Masashi Akiyama

    Rheumatology (Oxford, England)     2023.12

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    DOI: 10.1093/rheumatology/kead649

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  19. Lysophospholipase D from Thermocrispum limits psoriatic inflammation by hydrolyzing epidermal lysoplasmalogen produced by group IIF secreted phospholipase A2. Reviewed International journal

    Haruka Hakoi, Yoshimi Miki, Saki Nomura, Kimiko Nakajima, Chiaki Terashima-Murase, Takuya Takeichi, Shigetoshi Sano, Masashi Akiyama, Shin-Ichi Sakasegawa, Makoto Murakami, Kei Yamamoto

    Biochimie   Vol. 215   page: 75 - 87   2023.12

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    Epidermal lipids play important roles in skin homeostasis and diseases. Psoriasis is an inflammatory disease characterized by keratinocyte hyperproliferation and Th17 immune responses. We previously reported that ethanolamine-type lysoplasmalogen (P-LPE), preferentially produced by group IIF secreted PLA2 (sPLA2-IIF/PLA2G2F) that is expressed in the suprabasal epidermis, promotes epidermal hyperplasia in psoriatic inflammation. Herein, we show that forcible degradation of epidermal P-LPE by topical application of recombinant lysophospholipase D (LyPls-PLD) from Thermocrispum, a lysoplasmalogen-specific hydrolase, attenuated epidermal hyperplasia and inflammation in imiquimod-induced and K5.Stat3C-transgenic mouse psoriasis models. In humans, P-LPE levels were elevated in the tape-stripped stratum corneum of patients with psoriasis. Moreover, in primary cultured human epidermal keratinocytes, aberrant cell proliferation and activation by psoriatic cytokines were sPLA2-IIF/P-LPE-dependent and were suppressed by the addition of LyPls-PLD with a decrease in P-LPE. These findings confirm that the sPLA2-IIF/P-LPE axis in the epidermis indeed regulates psoriasis, that P-LPE is a lipid biomarker that predicts the severity of psoriasis, and that pharmacological removal of this bioactive lipid is useful to prevent the disease. Thus, our study may lead to the development of drug discovery and diagnostic techniques based on this pathway.

    DOI: 10.1016/j.biochi.2023.09.027

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  20. An in-frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma. Reviewed International journal

    Michiya Omi, Takuya Takeichi, Tomoko Chiba, Yoshihide Asano, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 11 ) page: E370 - E372   2023.11

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    Authorship:Corresponding author   Language:English  

    DOI: 10.1111/1346-8138.16880

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  21. Diagnosis of acute generalized pustular bacterid facilitated by point-of-care testing. Reviewed International journal

    Ryo Fukaura, Chiaki Terashima-Murase, Kana Tanahashi, Takuya Takeichi, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 10 ) page: E347 - E348   2023.10

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  22. Allergen-specific IgG4 increase in atopic dermatitis with long-term dupilumab use. Reviewed International journal

    Mariko Ogawa-Momohara, Yoshinao Muro, Chiaki Murase, Tomoki Taki, Kana Tanahashi, Yuta Yamashita, Haruka Koizumi, Ryo Fukaura, Takuya Takeichi, Masashi Akiyama

    The British journal of dermatology   Vol. 189 ( 4 ) page: 472 - 474   2023.9

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1093/bjd/ljad207

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  23. Treatment of Severe Dermatitis, Multiple Allergies, and Metabolic Wasting With Dupilumab. Reviewed International journal

    Yuta Koike, Takuya Takeichi, Norito Ishii, Tomoka Waseda, Naoya Murayama, Masashi Akiyama, Hiroyuki Murota

    JAMA dermatology   Vol. 159 ( 9 ) page: 1009 - 1011   2023.9

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    DOI: 10.1001/jamadermatol.2023.1417

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  24. Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis. Reviewed International coauthorship International journal

    Takuya Takeichi, Takenori Yoshikawa, Muhammad Nasir Iqbal, Muhammad Farooq, Tomoki Taki, Yoshinao Muro, Yutaka Shimomura, Mariko Seishima, Masashi Akiyama

    Experimental dermatology   Vol. 32 ( 9 ) page: 1557 - 1562   2023.9

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    Authorship:Lead author, Corresponding author   Language:English   Publishing type:Research paper (scientific journal)  

    Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants in MPO remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case of GPP with a rare missense heterozygous variant, c.1810C>T p.(Arg604Cys), in MPO. Our structural analysis and functional assays to measure myeloperoxidase activity suggest that the present MPO substitution is a hypomorphic variant in MPO. Thus, the mild phenotype of the present GPP patient might be associated with an incomplete hypomorphic loss-of-function variant in MPO. Additionally, the severe intractable edematous pustules and erythema improved dramatically after five rounds of granulocyte and monocyte adsorption apheresis (GMA) therapy. This is the first report of GMA treatment for GPP associated with a pathogenic variant in MPO, as far as we know. Our findings suggest that GMA might be a useful and powerful tool for controlling GPP in patients with myeloperoxidase deficiency.

    DOI: 10.1111/exd.14846

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  25. Giant condyloma of Buschke-Löwenstein in a Netherton syndrome patient, successfully treated with cryotherapy and intravenous immunoglobulin. Reviewed International journal

    Mirai Sawa, Chiaki Murase, Naoto Yamada, Ryo Fukaura, Nobuyuki Tetsuka, Yoshitaka Sato, Takuya Takeichi, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 9 ) page: E289 - E291   2023.9

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    Language:English   Publishing type:Research paper (scientific journal)  

    DOI: 10.1111/1346-8138.16798

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  26. Comment on: Successful treatment of rapid progressive interstitial lung disease in a case of anti-Zo antibody positive anti-synthetase syndrome. Reviewed International journal

    Haruka Koizumi, Yoshinao Muro, Satoshi Kamiya, Norika Akashi, Satoko Imai, Yuta Yamashita, Mariko Ogawa-Momohara, Takuya Takeichi, Masashi Akiyama

    International journal of rheumatic diseases   Vol. 26 ( 9 ) page: 1872 - 1873   2023.9

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  27. Anti-KIF20B autoantibodies in systemic autoimmune rheumatic diseases: Their high prevalence in systemic lupus erythematosus. Reviewed International coauthorship International journal

    Haruka Koizumi, Yoshinao Muro, Yuta Yamashita, Takuya Takeichi, Marvin J Fritzler, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 8 ) page: 990 - 998   2023.8

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    The kinesin superfamily protein 20B (KIF20B), also known as M-phase phosphoprotein-1, is a plus-end-directed motor enzyme for cytokinesis. Anti-KIF20B antibodies have been reported in idiopathic ataxia, but no previous studies have examined anti-KIF20B antibodies in systemic autoimmune rheumatic diseases (SARDs). We aimed to establish methods for detecting anti-KIF20B antibodies and to investigate the clinical significance of these antibodies in SARDs. Serum samples from 597 patients with various SARDs and 46 healthy controls (HCs) were included. Fifty-nine samples that had been examined by immunoprecipitation using the recombinant KIF20B protein produced by in vitro transcription/translation were used for establishing the ELISA cutoff with the same recombinant protein for measuring the anti-KIF20B antibodies. The ELISA performed well, showing close agreement with the immunoprecipitation results (Cohen's κ >0.8). The ELISA results for 643 samples showed the prevalence of anti-KIF20B to be higher in the systemic lupus erythematosus (SLE) patients than in the HCs (18/89 vs. 3/46, P = 0.045). Since no SARD other than SLE had higher frequencies of anti-KIF20B antibodies than those of the HCs, we investigated the clinical characteristics of anti-KIF20B antibody-positive cases in SLE. The score on the SLE Disease Activity Index-2000 (SLEDAI-2K) was significantly higher for the anti-KIF20B-positive SLE patients than for the anti-KIF20B-negative SLE patients (P = 0.013). In a multivariate regression analysis of the anti-single-stranded deoxyribonucleic acid, anti-double-stranded deoxyribonucleic acid, and anti-KIF20B antibodies, the presence of anti-KIF20B antibody was significantly associated with high SLEDAI-2K scores (P = 0.003). Anti-KIF20B antibodies were found in ~20% of patients with SLE and were associated with high SLEDAI-2K scores. Much larger cohort and longitudinal studies are needed to confirm the association between anti-KIF20B antibodies and SLE.

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  28. Plucked scalp hair follicle samples are useful RNA sources for mRNA analysis of most genodermatosis-associated genes. Reviewed International journal

    So Takeuchi, Takuya Takeichi, Yoshinao Muro, Teppei Shimamura, Masashi Akiyama

    Journal of dermatological science   Vol. 111 ( 2 ) page: 68 - 70   2023.8

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  29. Loss of RhoE function in dermatofibroma promotes disorganized dermal fibroblast extracellular matrix and increased integrin activation. Reviewed International coauthorship International journal

    Sofia Endzhievskaya, Chao-Kai Hsu, Hsing-San Yang, Hsin-Yu Huang, Yu-Chen Lin, Yi-Kai Hong, John Y W Lee, Alexandros Onoufriadis, Takuya Takeichi, Julia Yu-Yun Lee, Tanya J Shaw, John A McGrath, Maddy Parsons

    The Journal of investigative dermatology   Vol. 143 ( 8 ) page: 1487 - 1497.e9   2023.8

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    Dermatofibromas are common, benign fibrous skin tumors that can occur at any skin site. In most cases, dermatofibromas are solitary and sporadic, but a few are multiple and familial, and the mechanisms leading to these lesions are currently unclear. Using exome sequencing, we have identified a heterozygous variant in a pedigree with autosomal dominant multiple familial dermatofibromas within RND3 (c.692C>T,p.T231M) that encodes for the small GTPase RhoE, a regulator of the actin cytoskeleton. Expression of T231M-RhoE or RhoE depletion using CRISPR in human dermal fibroblasts increased proliferation, adhesion to extracellular matrix via enhanced β1 integrin activation and more disorganized matrix. The enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2) was identified as a binding partner for RhoE and formation of this complex was disrupted by T231M-RhoE. PLOD2 promotes collagen crosslinking and activation of β1 integrins, and depleting PLOD2 in T231M-RhoE expressing cells reduced T231M-RhoE-mediated β1 integrin activation and led to increased matrix alignment. Immunohistochemical analysis revealed reduced expression of RhoE but increased expression of PLOD2 in the dermis of dermatofibroma skin samples compared to controls. Our data show loss of RhoE function leads to increased PLOD2 activation, enhancing integrin activation and leading to disorganized extracellular matrix, contributing to dermatofibroma.

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  30. Ichthyotic skin phenotype induced by the chronic activation of Toll-like receptor 2, and autoinflammation. Reviewed International journal

    Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    The British journal of dermatology   Vol. 189 ( 2 ) page: 252 - 252   2023.7

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  31. KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification. Reviewed International coauthorship International journal

    Takuya Takeichi, Yasutoshi Ito, John Y W Lee, Chiaki Murase, Yusuke Okuno, Yoshinao Muro, John A McGrath, Masashi Akiyama

    The British journal of dermatology   Vol. 189 ( 1 ) page: 134 - 136   2023.7

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  32. Cutaneous manifestations of microscopic polyangiitis successfully controlled with avacopan alone. Reviewed International journal

    Satoshi Kamiya, Haruka Koizumi, Yuika Suzuki, Satoko Imai, Yuta Yamashita, Mariko Ogawa-Momohara, Takuya Takeichi, Yoshinao Muro, Kazushi Yasuda, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 7 ) page: E206 - E207   2023.7

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  33. Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan. Reviewed

    Masashi Akiyama, Takuya Takeichi, Shigaku Ikeda, Akira Ishiko, Michiko Kurosawa, Hiroyuki Murota, Yutaka Shimomura, Tamio Suzuki, Katsuto Tamai, Akio Tanaka, Tadashi Terui, Masayuki Amagai

    The Keio journal of medicine     2023.6

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    Our Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activities for raising public awareness of these six intractable hereditary skin diseases and summarizes our recent achievements in clarifying the situation of medical treatments for these diseases in Japan. We note our current progress in elucidating the pathogeneses of these diseases and in developing new treatment methods, and we discuss our progress in establishing clinical practice guidelines. A nationwide survey on epidermolysis bullosa and a clinical survey on congenital ichthyoses are progressing. The Angioedema Activity Score and the Angioedema Quality-of-Life Questionnaire, the latter of which is a quality-of-life evaluation tool, have been established for hereditary angioedema. Registries of patients with oculocutaneous albinism and pseudoxanthoma elasticum have been created, and the registry for the latter has achieved its target of 170 cases. For GPP, the results of our survey on clinical practice were published in 2021. Information regarding all six of these hereditary skin diseases has been disseminated to academic societies, medical professionals, patients, and the general public.

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  34. COVID-19 infection- and vaccination-related exacerbation of Darier's disease in a single patient. Reviewed International journal

    Ryo Fukaura, Takuya Takeichi, Aoi Ebata, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 6 ) page: 833 - 836   2023.6

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    Darier's disease (DD) is a rare autosomal dominantly inherited disorder. DD patients usually present with widespread keratotic eruptions with itching in the seborrheic regions that are exacerbated by various factors, including heat, sweat, and physical trauma. The SARS-CoV-2 (COVID-19) pandemic has stirred confusion among the medical community, including dermatologists, as this infection has been implicated in various skin conditions. Only a handful of reports have documented DD associated with COVID-19. Here, we report a 30-year-old male with Darier's disease whose symptoms were exacerbated following both COVID-19 vaccination and COVID-19 infection. The patient had noticed slight eruptions 7 years prior, but was not particularly concerned. After COVID-19 vaccination and infection, he had erythematous maculopapular lesions in large areas of the trunk and extremities. The previously reported pathogenic variant c.2255_2257del (p.(Ile752_Tyr753delinsAsn)) in ATP2A2 was detected in the present patient. Oral etretinate greatly improved his DD manifestations. As far as we know, the present patient is the first genetically confirmed DD case who showed both COVID-19 infection- and vaccination-related DD exacerbations independently. We think that the further accumulation of DD cases exacerbated by COVID-19 infection/vaccination is needed to clarify the mechanisms of DD aggravation.

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  35. The use of certolizumab pegol to successfully treat generalized pustular psoriasis combined with psoriatic uveitis Reviewed International journal

    Kazuki Yatsuzuka, Takuya Matsumoto, Yuri Sakane, Ryo Fukaura, Takuya Takeichi, Masashi Akiyama, Masamoto Murakami

    The Journal of Dermatology   Vol. 50 ( 6 ) page: E175 - E176   2023.6

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    Other Link: https://onlinelibrary.wiley.com/doi/full-xml/10.1111/1346-8138.16704

  36. Successful combination therapy of bimekizumab and granulocyte monocyte adsorption apheresis for generalized pustular psoriasis complicated with microscopic polyangiitis. Reviewed International journal

    Rie Shukuin, Haruka Koizumi, Aoi Ebata, Satoko Imai, Yuta Yamashita, Mariko Ogawa-Momohara, Takuya Takeichi, Yoshinao Muro, Norito Takami, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 6 ) page: E181 - E182   2023.6

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  37. Ichthyotic skin lesions of Conradi-Hünermann-Happle syndrome successfully treated with dupilumab. Reviewed International journal

    Ryo Fukaura, Takuya Takeichi, Aoi Ebata, Chiaki Murase, Yoshinao Muro, Masashi Akiyama

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 37 ( 6 ) page: E732 - E734   2023.6

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  38. Current understanding of the phenotypic spectrum of patients with NLRP1 variants. Reviewed International journal

    Takuya Takeichi, Masashi Akiyama

    The British journal of dermatology   Vol. 188 ( 2 ) page: 160 - +   2023.2

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  39. Development of pemphigus vegetans and exacerbation of pemphigus foliaceus after secukinumab loading in a patient with complicated generalized pustular psoriasis and pyoderma gangrenosum. Reviewed International journal

    Lisa Minai, Takuya Takeichi, Youichi Ogawa, Akiko Honobe-Tabuchi, Takashi Okamoto, Hiroshi Mitsui, Shinji Shimada, Masashi Akiyama, Tatsuyoshi Kawamura

    The Journal of dermatology   Vol. 50 ( 2 ) page: 245 - 249   2023.2

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    In dermatology, biologics that block signaling pathways of TNF-α, IL-4/IL13, IL-17s, and IL-23 are widely used for the treatment of several inflammatory skin diseases, such as atopic dermatitis and psoriasis. They have shown excellent efficacy with an acceptable safety profile. However, these biologics targeting pathogenic cytokines and their receptors could modulate immunological balance, leading to the development of other inflammatory or autoimmune skin diseases in some cases. In this study, we present a patient who suffered pemphigus vegetans and showed an exacerbation of pemphigus foliaceus after secukinumab loading for the treatment of complicated generalized pustular psoriasis and pyoderma gangrenosum.

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  40. Exploring biomarkers to predict clinical improvement of atopic dermatitis in patients treated with dupilumab (B-PAD study). Reviewed International journal

    Takeshi Nakahara, Kenji Izuhara, Daisuke Onozuka, Hidehisa Saeki, Satoshi Nunomura, Motoi Takenaka, Mai Matsumoto, Yoko Kataoka, Rai Fujimoto, Sakae Kaneko, Eishin Morita, Akio Tanaka, Michihiro Hide, Tatsuro Okano, Tomomitsu Miyagaki, Natsuko Aoki, Kimiko Nakajima, Susumu Ichiyama, Makiko Kido-Nakahara, Kyoko Tonomura, Yukinobu Nakagawa, Risa Tamagawa-Mineoka, Koji Masuda, Takuya Takeichi, Masashi Akiyama, Yozo Ishiuji, Michie Katsuta, Yuki Kinoshita, Chiharu Tateishi, Aya Yamamoto, Akimichi Morita, Haruna Matsuda-Hirose, Yutaka Hatano, Hiroshi Kawasaki, Keiji Tanese, Mamitaro Ohtsuki, Koji Kamiya, Yudai Kabata, Riichiro Abe, Hiroshi Mitsui, Tatsuyoshi Kawamura, Gaku Tsuji, Norito Katoh, Masutaka Furue

    Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology   Vol. 53 ( 2 ) page: 233 - 238   2023.2

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  41. Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum. International journal

    Akira Miyazaki, Takuya Takeichi, Kana Tanahashi, Tomoki Taki, Yosuke Taki, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 2 ) page: e85 - e86   2023.2

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  42. Prominent dermal accumulation of Russell bodies underlying pseudocarcinomatous hyperplasia with fungal infection. Reviewed

    Tatsuhiro Noda, Norika Akashi, Maiko Shimomura, Haruka Koizumi, Miyuki Mizuta, Kosei Nakajima, Takuya Takeichi, Teruyuki Mitsuma, Masashi Akiyama

    Nagoya journal of medical science   Vol. 85 ( 1 ) page: 123 - 126   2023.2

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    Blockade of the secretion of immunoglobulins leads to their accumulation in plasma cells, resulting in condensed immunoglobulins in the rough endoplasmic reticulum of plasma cells, termed Russell bodies. They are sometimes found in lymphoplasmacellular inflammation of the intestinal mucosa and in lymphoid cell malignancies, but only very rarely in skin diseases. Here, we report an 86-year-old female who presented with a lesion with the prominent accumulation of Russell bodies underlying pseudocarcinomatous hyperplasia with fungal infection in the face. Immunohistochemical staining showed the cells containing Russell bodies to be positive for CD138 and the Russell bodies to be positive for immunoglobulin κ and λ light chains. The present case suggests that when inflammatory cell infiltration with abundant round intracellular eosinophilic materials is observed in the dermis, the dermal accumulation of Russell bodies should be considered in cases with reactive pseudocarcinomatous hyperplasia with fungal infection.

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  43. A case of juvenile amyopathic dermatomyositis with anti-transcription intermediary factor 1-α antibody showing negative anti-TIF1-γ ELISA results: Comment on "Case of pembrolizumab-induced dermatomyositis with anti-transcription intermediary factor 1-γ antibody". Reviewed International journal

    Haruka Koizumi, Yoshinao Muro, Satoko Imai, Yuta Yamashita, Mariko Ogawa-Momohara, Takuya Takeichi, Megumi Murakami, Teruyuki Mitsuma, Masashi Akiyama

    The Journal of dermatology   Vol. 50 ( 1 ) page: E39 - E40   2023.1

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  44. Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma. Reviewed International journal

    Kotoe Mae, Yoshio Kawakami, Ai Kajita, Takuya Takeichi, Tatsuhiro Noda, Yoji Hirai, Masashi Akiyama, Shin Morizane

    The Journal of dermatology   Vol. 50 ( 1 ) page: E37 - E38   2023.1

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  45. Comment on: Disease evolution in a long-term follow-up of 104 undifferentiated connective tissue disease patients. Reviewed International journal

    Yuta Yamashita, Yoshinao Muro, Haruka Koizumi, Mariko Ogawa-Momohara, Takuya Takeichi, Masashi Akiyama

    Clinical and experimental rheumatology   Vol. 41 ( 1 ) page: 195 - 196   2023.1

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  46. Comment on: Disease evolution in a long-term follow-up of 104 undifferentiated connective tissue disease patients Reviewed International journal

    Yamashita Y., Muro Y., Koizumi H., Ogawa-Momohara M., Takeichi T., Akiyama M.

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY   Vol. 41 ( 1 ) page: 195 - 196   2023.1

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  47. Occurrence of cholangiocarcinoma, three years after negative seroconversion of anti-TIF1γ antibody, in a dermatomyositis patient. Reviewed International journal

    Ken Horisaki, Yoshinao Muro, Mariko Ogawa-Momohara, Yuta Yamashita, Haruka Koizumi, Takuya Takeichi, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 33 ( 1 ) page: 48 - 49   2023.1

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    DOI: 10.1684/ejd.2023.4414

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  48. Appropriate immunoassay systems are needed to evaluate various anticentromere antibodies as biomarkers for disease progression in systemic sclerosis. Reviewed International journal

    Yoshinao Muro, Yuta Yamashita, Haruka Koizumi, Mariko Ogawa-Momohara, Takuya Takeichi, Masashi Akiyama

    Journal of immunological methods   Vol. 512   page: 113400 - 113400   2023.1

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  49. Two novel anti-aminoacyl tRNA synthetase antibodies: Autoantibodies against cysteinyl-tRNA synthetase and valyl-tRNA synthetase. Reviewed International journal

    Yoshinao Muro, Yuta Yamashita, Haruka Koizumi, Mariko Ogawa-Momohara, Takuya Takeichi, Teruyuki Mitsuma, Masashi Akiyama

    Autoimmunity reviews   Vol. 21 ( 12 ) page: 103204 - 103204   2022.12

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    Anti-aminoacyl-tRNA synthetase (anti-ARS) antibodies are useful for identifying a clinical subset of patients with inflammatory myopathies. Since the myositis of anti-ARS-positive patients is characterized by a unique set of non-myopathic manifestations, including interstitial lung disease, mechanic's hands, and arthralgia, the patients are classified as having anti-synthetase syndrome. Autoantibodies have been identified to eight kinds of ARSs. Of the other 12 ARSs, eight are components of the "OJ" multi-synthetase complex. Autoantibodies to the four remaining ARSs (CysARS, ValARS, SerARS, and TrpARS) have not been reported to be present in patients with inflammatory myopathies. In this study, we first screened samples from more than 300 Japanese patients majorly consisting of those with dermatomyositis (DM) by our established in-house ELISA to find autoantibodies against the four ARSs described above. Since sera from two DM patients specifically reacted to CysARS or ValARS, we determined their reactivities by immunoprecipitation (IP) with the corresponding recombinant proteins and IP-Western blotting with cellular extract. One patient had several features found in anti-synthetase syndrome, but the other did not. The clinical differences among the various anti-ARS antibodies should be explored in a future work.

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  50. Ceramide analysis in combination with genetic testing may provide a precise diagnosis for self-healing collodion babies. International journal

    Takuya Takeichi, Yusuke Ohno, Kana Tanahashi, Yasutoshi Ito, Ken Shiraishi, Ryo Utsunomiya, Satoshi Yoshida, Kenta Ikeda, Hayato Nomura, Shin Morizane, Koji Sayama, Tomoo Ogi, Yoshinao Muro, Akio Kihara, Masashi Akiyama

    Journal of lipid research   Vol. 63 ( 12 ) page: 100308 - 100308   2022.12

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    Self-healing collodion baby (SHCB), also called "self-improving collodion baby", is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the first 3 months to 1 year of life. However, during the neonatal period, it is not easy to distinguish SHCB from other inflammatory forms of autosomal recessive congenital ichthyosis, such as congenital ichthyosiform erythroderma. Here, we report a case study of two Japanese SHCB patients with compound heterozygous mutations, c.235G>T (p.(Glu79*))/ c.1189C>T (p.(Arg397Cys)) and c.1295A>G (p.(Tyr432Cys))/ c.1138delG (p.(Asp380Thrfs*3)), in CYP4F22, which encodes cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22). Immunohistochemically, inflammation with the strong expression of IL-17C, IL-36γ, and TNF-α was seen in the skin at birth. CYP4F22 is an ultra-long-chain fatty acid (FA) ω-hydroxylase responsible for ω-O-acylceramide (acylceramide) production. Among the epidermal ceramides, acylceramide is a key lipid in maintaining the epidermal permeability barrier function. We found that the levels of ceramides with ω-hydroxy FAs including acylceramides and the levels of protein-bound ceramides were much lower in stratum corneum samples obtained by tape stripping from SHCB patients than in those from their unaffected parents and individuals without SHCB. Additionally, our cell-based enzyme assay revealed that two mutants, p.(Glu79*) and p.(Arg397Cys), had no enzyme activity. Our findings suggest that genetic testing coupled with non-invasive ceramide analyses using tape-stripped stratum corneum samples might be useful for the early and precise diagnosis of congenital ichthyoses, including SHCB.

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  51. Clinical characteristics of systemic sclerosis patients with anti-NOR90 antibodies

    Yamashita, Y; Muro, Y; Koizumi, H; Ogawa-Momohara, M; Takeichi, T; Akiyama, M

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 142 ( 12 ) page: S204 - S204   2022.12

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  52. Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome. Reviewed International journal

    Ayami Arai, Takuya Takeichi, Hiroyuki Wakamoto, Takayuki Sassa, Yasutoshi Ito, Yuya Murase, Tomoo Ogi, Masashi Akiyama, Akio Kihara

    Journal of dermatological science   Vol. 107 ( 3 ) page: 114 - 122   2022.9

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    BACKGROUND: Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder whose causative gene is the fatty aldehyde dehydrogenase ALDH3A2 and of which ichthyosis is the major skin symptom. The stratum corneum contains a variety of ceramides, among which ω-O-acylceramides (acylceramides) and protein-bound ceramides are essential for skin permeability barrier formation. OBJECTIVES: To determine the ceramide classes/species responsible for SLS pathogenesis and the enzymes that are impaired in SLS. METHODS: Genomic DNA was collected from peripheral blood samples from an SLS patient and her parents, and whole-genome sequencing and Sanger sequencing were performed. Lipids were extracted from stratum corneum samples from the SLS patient and healthy volunteers and subjected to ceramide profiling via liquid chromatography coupled with tandem mass spectrometry. RESULTS: A duplication (c.55_130dup) and a missense mutation (p.Lys447Glu) were found in the patient's ALDH3A2 gene. The patient had reduced levels of all acylceramide classes, with total acylceramide levels at 25 % of healthy controls. Reductions were also observed for several nonacylated ceramides: ceramides with phytosphingosine or 6-hydroxysphingosine in the long-chain base moiety were reduced to 24 % and 41 % of control levels, respectively, and ceramides with an α-hydroxy fatty acid as the fatty acid moiety were reduced to 29 %. The fatty acid moiety was shortened in many nonacylated ceramide classes. CONCLUSION: These results suggest that reduced acylceramide levels are a primary cause of the ichthyosis symptoms of SLS, but reductions in other ceramide classes may also be involved.

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  53. Comment on: Favourable complete remission of anti-OJ antibody-positive myositis after lung cancer resection. Reviewed International journal

    Yoshinao Muro, Kazuki Nishida, Yuta Yamashita, Haruka Koizumi, Takuya Takeichi, Minoru Satoh, Masashi Akiyama

    Rheumatology (Oxford, England)   Vol. 61 ( 8 ) page: E232 - E234   2022.8

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    DOI: 10.1093/rheumatology/keac170

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  54. Extremely mild dominant dystrophic epidermolysis bullosa: Genotype information from whole-exome sequencing of salivary gDNA predicts disease severity. Reviewed International journal

    Akira Miyazaki, Takuya Takeichi, So Takeuchi, Tomoki Taki, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 49 ( 8 ) page: E276 - E277   2022.8

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  55. Eosinophilic granulomatosis with polyangiitis complicated with idiopathic thrombocytopenic purpura and sclerosing cholangitis showing eosinophilic infiltration. Reviewed International journal

    Yuta Yamashita, Takuya Takeichi, Yoji Ishizu, Nobuaki Suzuki, Takashi Tsuboi, Kentaro Matsuura, Haruka Koizumi, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 49 ( 8 ) page: E270 - E271   2022.8

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  56. Darier disease successfully treated with a topical agent containing vitamin A (retinyl palmitate), vitamin E, and urea. Reviewed International journal

    Akira Miyazaki, Tomoki Taki, Takuya Takeichi, Michihiro Kono, Hiroaki Yagi, Masashi Akiyama

    The Journal of dermatology   Vol. 49 ( 8 ) page: 779 - 782   2022.8

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    Darier disease (DD), also called keratosis follicularis, is an autosomal dominant hereditary keratinization disorder that manifests as keratotic papules with plaques in seborrheic areas. There are no validated curative treatments for DD, with the majority of cases treated symptomatically. We report the efficacy of a topical over-the-counter agent which contains retinyl palmitate, vitamin E, and urea for a patient with DD. A 13-year-old girl had brown papules on her scalp, neck, shoulders, and axillae since entering elementary school. A skin biopsy revealed hyperkeratosis, suprabasal acantholysis, and dyskeratosis manifested as corps ronds and grains in the epidermis. Sanger sequencing found the previously reported heterozygous mutation c.1484C>T in ATP2A2. The application of an over-the-counter topical agent containing retinyl palmitate 2750 μg/g (5000 IU/g), tocopheryl acetate 20 mg/g, urea 200 mg/g, and monoammonium glycyrrhizinate 5 mg/g twice daily for 2 months improved the papules without serious adverse events. Oral or topical aromatic vitamin A analogs (retinoids) are often used to treat DD. However, several adverse events are associated with retinoid treatment, and many patients only undergo their intermittent use or discontinue the treatments. Retinyl palmitate is more stable and has a lower irritative profile than other retinoic acids. When applied topically, however, retinyl palmitate cannot penetrate the skin as well as retinol can. Some reports have noted that vitamin E increases the biological availability of vitamin A and that urea helps mechanical percutaneous drug delivery. Our case suggests that retinyl palmitate has a sufficient therapeutic effect when combined with vitamin E and urea. In conclusion, we propose that topical agents containing retinyl palmitate, vitamin E, and urea might have a satisfactory effect on the skin lesions of DD patients, without the serious risks of adverse events.

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  57. Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas. Reviewed International journal

    Yasutoshi Ito, Takuya Takeichi, Koichi Nakagawa, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

    The Journal of dermatology   Vol. 49 ( 7 ) page: E228 - E229   2022.7

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  58. Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2. Reviewed International journal

    Yuika Suzuki, Takuya Takeichi, Kana Tanahashi, Yoshinao Muro, Yasushi Suga, Tomoo Ogi, Masashi Akiyama

    International journal of molecular sciences   Vol. 23 ( 14 )   2022.7

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    Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2. In addition, we summarize previous reports on SEI patients with the identical mutation. One of the two patients had disease onset at the age of 7 months. The other patient's age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in KRT2 occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in KRT2.

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  59. UVB-Induced Skin Autoinflammation Due to Nlrp1b Mutation and Its Inhibition by Anti-IL-1β Antibody. Reviewed International journal

    Yuya Murase, Takuya Takeichi, Jun Koseki, Yuki Miyasaka, Yoshinao Muro, Tamio Ohno, Teppei Shimamura, Masashi Akiyama

    Frontiers in immunology   Vol. 13   page: 876390 - 876390   2022.6

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    NLRP1 (NACHT and leucine-rich repeat-containing protein family, pyrin domain-containing protein 1) is an innate immune sensor that is involved in the formation of inflammasome complexes. NLRP1 hyperactivity has been reported to cause inherited autoinflammatory diseases including familial keratosis lichenoides chronica and NLRP1-associated autoinflammation with arthritis and dyskeratosis. We generated Nlrp1b (the mouse homologue of human NLRP1) gain-of-function knock-in (Nlrp1b KI) mice with UVB irradiation-induced autoinflammatory skin lesions. We demonstrated that UVB irradiation induces IL-1β upregulation and IL-1β-dependent inflammation via caspase-1 activation in these Nlrp1b KI mice. RNA sequencing revealed the upregulation of inflammasome pathway-related genes, keratinocyte stress marker genes, and keratinocyte differentiation marker genes in the Nlrp1b KI mice after UVB irradiation. The skin inflammation and hyperkeratosis from UVB irradiation in the Nlrp1b KI mice were inhibited by both intraperitoneal and subcutaneous administration of anti-IL-1β antibodies before UVB irradiation. UVB irradiation and the IL-1β pathway are important in the pathogenesis of NLRP1-associated autoinflammatory skin lesions.

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  60. Epithelioid cell granuloma formation in CARD14-associated papulosquamous eruptions. Reviewed International journal

    Takuya Takeichi, Kenta Ikeda, Yoshinao Muro, Tomoo Ogi, Shin Morizane, Masashi Akiyama

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 36 ( 5 ) page: E369 - E371   2022.5

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  61. Clinical significance of anti-NOR90 antibodies in systemic sclerosis and idiopathic interstitial pneumonia. Reviewed International journal

    Yuta Yamashita, Yasuhiko Yamano, Yoshinao Muro, Mariko Ogawa-Momohara, Takuya Takeichi, Yasuhiro Kondoh, Masashi Akiyama

    Rheumatology (Oxford, England)   Vol. 61 ( 4 ) page: 1709 - 1716   2022.4

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    OBJECTIVE: Anti-NOR90 antibodies are usually found in patients with systemic sclerosis (SSc); however, their clinical relevance remains obscure. We developed an enzyme-linked immunosorbent assay (ELISA) for measuring them to investigate the clinical features of patients with anti-NOR90 antibodies. METHODS: Serum samples from 1,252 patients with various conditions from Nagoya University Hospital and 244 patients with idiopathic interstitial pneumonia (IIP) from Tosei General Hospital were included. Anti-NOR90 antibodies were assayed by an ELISA using the recombinant protein produced by in vitro transcription/translation. RESULTS: Five (0.4%) patients in the Nagoya University Hospital cohort had anti-NOR90 antibodies. One patient with diffuse cutaneous SSc, 3 with limited cutaneous SSc, and 1 with Raynaud's disease were positive for anti-NOR90 antibodies. Anti-NOR90 antibodies were found more frequently in patients with systemic scleroderma-spectrum disorders (SSDs) than without SSDs (5/316 vs. 0/936, P<0.00101) and were found more frequently in patients with SSc than without SSc (4/249 vs. 0/528, P<0.0104) in the systemic autoimmune rheumatic diseases cohort. Three of the 4 anti-NOR90-positive SSc patients had interstitial lung disease (ILD), and 2 of those 4 had cancer. Three (1.2%) patients in the Tosei General Hospital cohort had anti-NOR90 antibodies. All 3 of the anti-NOR90-positive IIP patients had gastrointestinal tract involvement, and 2 of those 3 had cancer or skin lesions observed in SSc. CONCLUSIONS: Although anti-NOR90 antibodies are rarely found in clinics, our ELISA is useful for their detection. Further studies are needed to confirm the association of anti-NOR90 antibodies with ILD and cancer in SSc and IIP patients.

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  62. Case of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation. Reviewed International journal

    Moeka Miyazaki, Natsuki Ohkawa, Kazuki Miyabayashi, Hiromichi Shoji, Takuya Takeichi, Masato Kantake, Masashi Akiyama, Toshiaki Shimizu

    The Journal of dermatology   Vol. 49 ( 4 ) page: E137 - E139   2022.4

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  63. Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations Reviewed

    S. Takeuchi, T. Takeichi, Y. Koike, H. Takama, K. Tanahashi, Y. Okuno, N. Ishii, Y. Muro, T. Ogi, Y. Suga, M. Akiyama

    Journal of the European Academy of Dermatology and Venereology   Vol. 36 ( 3 ) page: E215 - E218   2022.3

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  64. Anti-Zo antibodies in Japanese myositis patients detected by a newly developed ELISA Reviewed

    Muro Y., Hashimoto T., Izumi S., Ogawa-Momohara M., Takeichi T., Yamashita H., Yasuoka H., Akiyama M.

    Clinical and experimental rheumatology   Vol. 40 ( 2 ) page: 219 - 223   2022.2

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  65. Differential pathomechanisms of desmoglein-1 transmembrane domain mutations in skin disease. Reviewed International journal

    Stephanie E Zimmer, Takuya Takeichi, Daniel E Conway, Akiharu Kubo, Yasushi Suga, Masashi Akiyama, Andrew P Kowalczyk

    The Journal of investigative dermatology   Vol. 142 ( 2 ) page: 323 - +   2022.2

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    Dominant and recessive mutations in the desmosomal cadherin, desmoglein-1 (DSG1), cause the skin diseases palmoplantar keratoderma (PPK) and severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome, respectively. Here, we compare two dominant missense mutations in the DSG1 transmembrane domain (TMD), G557R and G562R, causing PPK (DSG1PPK-TMD) and SAM syndrome (DSG1SAM-TMD), respectively, to determine the differing pathomechanisms of these mutants. Expressing the DSG1TMD mutants in a DSG-null background, we use cellular and biochemical assays to reveal differences in the mechanistic behavior of each mutant. Super resolution microscopy and functional assays showed a failure by both mutants to assemble desmosomes due to reduced membrane trafficking and lipid raft targeting. DSG1SAM-TMD maintained normal expression levels and turnover relative to DSG1WT, but DSG1PPK-TMD lacked stability, leading to increased turnover through lysosomal and proteasomal pathways and reduced expression levels. These results differentiate the underlying pathomechanisms of these disorders, suggesting that DSG1SAM-TMD acts dominant negatively while DSG1PPK-TMD is a loss-of-function mutation causing the milder PPK disease phenotype. These mutants portray the importance of the DSG TMD in desmosome function and suggest that a greater understanding of the desmosomal cadherin TMDs will further our understanding of the role that desmosomes play in epidermal pathophysiology.

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  66. Long-term risk of cancer development among anti-Th/To antibody-positive systemic sclerosis patients: comment on the article by Mecoli et al. Reviewed International journal

    Yuta Yamashita, Yasuhiko Yamano, Yoshinao Muro, Haruka Koizumi, Takuya Takeichi, Yasuhiro Kondoh, Masashi Akiyama

    Arthritis & rheumatology (Hoboken, N.J.)   Vol. 74 ( 2 ) page: 368 - 369   2022.2

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    We read the report by Mecoli et al on the relationship between cancer and anti-Th/To antibodies (AThAs) in patients with systemic sclerosis (SSc) (1). It is interesting that the presence of AThAs was reported to confer a protective effect against cancer development in those patients. However, cancer development in AThA-positive patients was significantly suppressed only within the first 3 years after SSc onset, and there was no significant difference in the number of deceased between the AThA-positive and AThA-negative patients.

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  67. Anti-Zo antibodies in Japanese myositis patients detected by a newly developed ELISA Reviewed

    Muro Y., Hashimoto T., Izumi S., Ogawa-Momohara M., Takeichi T., Yamashita H., Yasuoka H., Akiyama M.

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY   Vol. 40 ( 2 ) page: 219 - 223   2022.2

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  68. Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation. Reviewed International coauthorship International journal

    Takuya Takeichi, John Y W Lee, Yusuke Okuno, Yuki Miyasaka, Yuya Murase, Takenori Yoshikawa, Kana Tanahashi, Emi Nishida, Tatsuya Okamoto, Komei Ito, Yoshinao Muro, Kazumitsu Sugiura, Tamio Ohno, John A McGrath, Masashi Akiyama

    Frontiers in immunology   Vol. 12   page: 737747 - 737747   2022.1

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    Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated in an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense JAK1 mutation, H596D, in an individual with a unique autoinflammatory keratinization disease associated with early-onset liver dysfunction and autism. Using CRISPR-Cas9 gene targeting, we generated mice with an identical Jak1 knock-in missense mutation (Jak1 H595D/+;I596I/+;Y597Y/+ mice) that recapitulated key aspects of the human phenotype. RNA sequencing of samples isolated from the Jak1 H595D/+;I596I/+;Y597Y/+ mice revealed the upregulation of genes associated with the hyperactivation of tyrosine kinases and NF-κB signaling. Interestingly, there was a strong correlation between genes downregulated in Jak1 H595D/+;I596I/+;Y597Y/+ mice and those downregulated in the brain of model mice with 22q11.2 deletion syndrome that showed cognitive and behavioral deficits, such as autism spectrum disorders. Our findings expand the phenotypic spectrum of JAK1-associated disease and underscore how JAK1 dysfunction contributes to this autoinflammatory disorder.

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  69. A Case of Family with Vörner-type Palmoplantar Keratoses Confirmed by Genetic Analysis

    Matsumoto K., Kaneko S., Takeuchi S., Takeichi T., Akiyama M.

    Nishinihon Journal of Dermatology   Vol. 84 ( 5 ) page: 418 - 421   2022

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    DOI: 10.2336/nishinihonhifu.84.418

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  70. FOXA1 mutations in extramammary Paget's disease

    Takeichi T.

    Nishinihon Journal of Dermatology   Vol. 84 ( 1 ) page: 9 - 12   2022

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    DOI: 10.2336/nishinihonhifu.84.9

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  71. Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein. Reviewed International journal

    Yoshinao Muro, Yuta Yamashita, Haruka Koizumi, Takuya Takeichi, Masashi Akiyama

    Immunology letters   Vol. 239   page: 20 - 22   2021.11

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  72. Extensive multiple organ involvement in VEXAS syndrome. Reviewed International journal

    Noriyuki Takahashi, Takuya Takeichi, Tetsuya Nishida, Yasuhiro Takahashi, Juichi Sato, Masahiro Yamamura, Tomoo Ogi, Masashi Akiyama

    Arthritis & rheumatology (Hoboken, N.J.)   Vol. 73 ( 10 ) page: 1896 - 1897   2021.10

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    A 55-year-old Japanese man was diagnosed with VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, which is a newly documented adult-onset autoinflammatory disease caused by somatic UBA1 mutations [1], after four years of symptoms. He had suffered from recurrent fever after the onset of systemic arthralgia, scleritis, periorbital/orbital inflammation, optic perineuritis (A, B, T1-weighted contrast-enhanced magnetic resonance imaging in C and D, arrow in D), and myelodysplastic syndrome.

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  73. Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome Reviewed

    Murase C., Takeichi T., Taki T., Yoshikawa T., Suzuki A., Ogi T., Suga Y., Akiyama M.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 141 ( 10 ) page: S177 - S177   2021.10

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  74. A case of generalised pustular psoriasis with bullous pemphigoid showing spongiform pustule of Kogoj with eosinophils. Reviewed International journal

    Hiroyoshi Nozaki, Shin Iinuma, Shigetsuna Komatsu, Yoshio Hashimoto, Hikaru Shibaki, Takuya Takeichi, Norito Ishii, Masashi Akiyama, Masaru Honma, Akemi Ishida-Yamamoto

    European journal of dermatology : EJD   Vol. 31 ( 5 ) page: 660 - 662   2021.9

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  75. Case of annular pustular psoriasis/circinate erythematous psoriasis induced by hydroxychloroquine in a patient with systemic lupus erythematosus: Possible association with CARD-14 mutation. Reviewed International journal

    Hirotaka Midorikawa, Yukiko Kiniwa, Akane Minagawa, Kana Osawa, Takushi Shirai, Tasuku Sano, Kenta Nakamura, Atsuko Ashida, Ken-Ichi Ueno, Takuya Takeichi, Masashi Akiyama, Ryuhei Okuyama

    The Journal of dermatology   Vol. 48 ( 9 ) page: E440 - E442   2021.9

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  76. Intravenous allogeneic multilineage-differentiating stress-enduring cells in adults with dystrophic epidermolysis bullosa: a phase 1/2 open-label study. Reviewed International journal

    Y Fujita, T Nohara, S Takashima, K Natsuga, M Adachi, K Yoshida, S Shinkuma, T Takeichi, H Nakamura, O Wada, M Akiyama, A Ishiko, H Shimizu

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 35 ( 8 ) page: E528 - E531   2021.8

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  77. Cutaneous malignant melanoma in an elderly patient with intermediate junctional epidermolysis bullosa. Reviewed International journal

    Yuta Yamashita, Tomoki Taki, Takuya Takeichi, Mao Okumura, Shoichiro Mori, Yasutoshi Ito, Tomoo Ogi, Motohito Yamada, Masashi Akiyama

    The Journal of dermatology   Vol. 48 ( 8 ) page: E384 - E385   2021.8

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  78. Immune recognition of lysyl-tRNA synthetase and isoleucyl-tRNA synthetase by anti-OJ antibody-positive sera. Reviewed International journal

    Yoshinao Muro, Yasuhiko Yamano, Ken Yoshida, Yohsuke Oto, Kimiko Nakajima, Teruyuki Mitsuma, Shiori Kikuchi, Akihiro Matsumae, Mariko Ogawa-Momohara, Takuya Takeichi, Yasuhiro Kondoh, Masao Katayama, Yasuyuki Todoroki, Yoshiya Tanaka, Minoru Satoh, Masashi Akiyama

    Journal of autoimmunity   Vol. 122   page: 102680 - 102680   2021.8

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    OBJECTIVE: Anti-aminoacyl-tRNA synthetase (anti-ARS) antibodies are useful for identifying a clinical subset of patients with idiopathic inflammatory myopathies (IIMs). Anti-OJ antibodies, which recognize multi-enzyme synthetase complexes including isoleucyl-tRNA synthetase (IARS) and lysyl-tRNA synthetase (KARS), are among the anti-ARS antibodies. Although testing antibodies to other ARSs have been used clinically, no validated immunoassays for detecting anti-OJ antibodies are available. We aimed to establish an anti-OJ ELISA. METHODS: Serum samples were collected from 279 patients with IIMs and 22 patients with idiopathic interstitial pneumonia. Sixty-four of the samples that had been confirmed to be negative for anti-OJ by standard immunoprecipitation were used as the negative control, and 12 anti-OJ-positive reference sera were used as the positive control. Antibodies to IARS and KARS were assayed by ELISA using biotinylated recombinant proteins generated by in vitro transcription/translation. RESULTS: The anti-OJ-positive sera strongly reacted with the KARS and IARS recombinant proteins in ELISA. Although all 12 reference sera were positive in the anti-KARS ELISA, 4 of the 64 anti-OJ-negative sera were also weakly positive. The sensitivity and the specificity were 100% and 93.8%, respectively. Since our anti-KARS ELISA performed well, showing a high agreement with the results for immunoprecipitation (Cohen's κ > 0.8), the remaining 237 samples were also tested. Thirteen anti-KARS-positive sera were newly found by ELISA, all of which were anti-OJ positive by immunoprecipitation. CONCLUSION: Immunoassays for detecting anti-OJ antibodies using KARS and IARS recombinant proteins were developed. Our ELISAs performed well, with very high agreement of the results by immunoprecipitation and can be applied to the first reliable, easy-to-use measurement assays for anti-OJ antibodies.

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  79. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. Reviewed International journal

    Yasutoshi Ito, Takuya Takeichi, Kenta Ikeda, Kana Tanahashi, Takenori Yoshikawa, Yuya Murase, Yoshinao Muro, Yoshio Kawakami, Yasuo Nakamura, Kanako Matsuyama, Jun Muto, Naoki Oiso, Shin Morizane, Kazumitsu Sugiura, Yasushi Suga, Mariko Seishima, Akira Kawada, Tomoo Ogi, Masashi Akiyama

    Journal of dermatological science   Vol. 103 ( 2 ) page: 116 - 119   2021.8

  80. Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment. Reviewed International journal

    Soichiro Ikeya, Takuya Takeichi, Tomoki Taki, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

    Acta dermato-venereologica   Vol. 101 ( 6 ) page: adv00484   2021.6

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  81. Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital. Reviewed International journal

    Yoshihiro Nishida, Kunihiro Ikuta, Atsushi Natsume, Naoko Ishihara, Maki Morikawa, Hiroyuki Kidokoro, Yukako Muramatsu, Norie Nonobe, Kanako Ishizuka, Takuya Takeichi, Miki Kanbe, Seiji Mizuno, Shiro Imagama, Norio Ozaki

    Scientific reports   Vol. 11 ( 1 ) page: 11933 - 11933   2021.6

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    Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of specialists regardless of patient age, launching a multidisciplinary approach to the disease for the first time in Japan. From January 2014 to December 2020, 246 patients were enrolled in the NF1 patient list and medical records. Mean age was 26.0 years ranging from 3 months to 80 years. The number of patients was higher as age at first visit was lower. There were 107 males (41%) and 139 females. After 2011, the number of patients has increased since the year when the medical care network was started. Regarding orthopedic signs, scoliosis was present in 60 cases (26%), and bone abnormalities in the upper arm, forearm, and tibia in 8 cases (3.5%). Neurofibromas other than cutaneous neurofibromas were present in 90 cases (39%), and MPNST in 17 cases (7.4%). We launched a multidisciplinary NF1 clinic system for the first time in Japan. For patients with NF1, which is a hereditary and systemic disease associated with a high incidence of malignant tumors, it will be of great benefit when the number of such clinics in Japan and the rest of Asia is increased.

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  82. Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism. Reviewed International journal

    Toshinari Miyauchi, Shotaro Suzuki, Masae Takeda, Jin Teng Peh, Masayuki Aiba, Ken Natsuga, Yasuyuki Fujita, Takuya Takeichi, Taiko Sakamoto, Masashi Akiyama, Hiroshi Shimizu, Toshifumi Nomura

    American journal of human genetics   Vol. 108 ( 6 ) page: 1026 - 1039   2021.6

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    Revertant mosaicism, or "natural gene therapy," refers to the spontaneous in vivo reversion of an inherited mutation in a somatic cell. Only approximately 50 human genetic disorders exhibit revertant mosaicism, implicating a distinctive role played by mutant proteins in somatic correction of a pathogenic germline mutation. However, the process by which mutant proteins induce somatic genetic reversion in these diseases remains unknown. Here we show that heterozygous pathogenic CARD14 mutations causing autoinflammatory skin diseases, including psoriasis and pityriasis rubra pilaris, are repaired mainly via homologous recombination. Rather than altering the DNA damage response to exogenous stimuli, such as X-irradiation or etoposide treatment, mutant CARD14 increased DNA double-strand breaks under conditions of replication stress. Furthermore, mutant CARD14 suppressed new origin firings without promoting crossover events in the replication stress state. Together, these results suggest that mutant CARD14 alters the replication stress response and preferentially drives break-induced replication (BIR), which is generally suppressed in eukaryotes. Our results highlight the involvement of BIR in reversion events, thus revealing a previously undescribed role of BIR that could potentially be exploited to develop therapeutics for currently intractable genetic diseases.

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  83. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants. Reviewed International journal

    Chiaki Murase, Takuya Takeichi, Toshifumi Nomura, Tomoo Ogi, Masashi Akiyama

    The Journal of investigative dermatology   Vol. 141 ( 6 ) page: 1596 - 1598   2021.6

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  84. Autoantibody profiles in patients' sera associated with distribution patterns of dermatomyositis skin symptoms. Reviewed International journal

    Mariko Ogawa-Momohara, Fumie Kinoshita, Yoshinao Muro, Yumiko Kobayashi, Takuya Takeichi, Masashi Akiyama

    Journal of the American Academy of Dermatology   Vol. 84 ( 6 ) page: 1720 - +   2021.6

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    DOI: 10.1016/j.jaad.2020.07.131

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  85. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1 Reviewed

    Ito Y., Takeichi T., Igari S., Mori T., Ono A., Suyama K., Takeuchi S., Muro Y., Ogi T., Hosoya M., Yamamoto T., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 35 ( 5 ) page: E345 - E347   2021.5

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  86. Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome. Reviewed International journal

    Chiaki Murase, Takuya Takeichi, Tomoki Taki, Takenori Yoshikawa, Akiko Suzuki, Tomoo Ogi, Yasushi Suga, Masashi Akiyama

    Journal of dermatological science   Vol. 102 ( 2 ) page: 126 - 129   2021.5

  87. Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome. Reviewed

    Kaori Kaibuchi-Ando, Takuya Takeichi, Yasutoshi Ito, So Takeuchi, Yuta Yamashita, Motohito Yamada, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

    Nagoya journal of medical science   Vol. 83 ( 2 ) page: 393 - 396   2021.5

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    Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (PTCH1). PTCH1 encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of PTCH1 mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS.

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  88. Darier's disease with epilepsy in an elderly patient after surgery for aortic dissection. Reviewed International journal

    Yuya Murase, Takuya Takeichi, Tomoyuki Shibata, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 48 ( 4 ) page: E169 - E170   2021.4

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  89. Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation. Reviewed International journal

    Yuya Murase, Takuya Takeichi, Kana Tanahashi, Yoshiaki Marumo, Yuka Suzuki, Shigeo Nakamura, Masashi Akiyama

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 35 ( 4 ) page: E257 - E259   2021.4

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    Dermal extramedullary hematopoiesis (EMH) is seen as a normal process from the first to the fifth month of gestation, and it is a process in which undifferentiated dermal mesenchymal cells retain their hematopoietic potential.1 However, after sixth months of gestation, hematopoiesis does not occur in the dermis except in a few conditions, such as in myeloproliferative disorders.1-3.

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  90. ANCA-associated neuropathy in systemic sclerosis: A case report and review of literature Reviewed

    Kayo Takenaka, Takuya Takeichi, Ryoji Nishi, Masashi Suzuki, Haruki Koike, Masahisa Katsuno, Mariko Ogawa-Momohara, Yoshinao Muro, Masashi Akiyama

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 4 ( 2 ) page: 34 - 36   2021.4

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    Systemic sclerosis (SSc) is a multi-system autoimmune disease. Anti-neutrophil cytoplasmic antibodies (ANCA) are autoantibodies directed against enzymes found within primary granules of neutrophils and lysosomes in monocytes. Although up to 12% of SSc patients have ANCA, only a minority of these patients develop an overlap syndrome with ANCA-associated vasculitis. We summarize previous reports on SSc patients with ANCA-associated neuropathy. In all the reported cases, the SSc diagnosis preceded the ANCA-associated neuropathy diagnosis. Seven of the eight patients with limited cutaneous SSc had interstitial lung disease (ILD). Thus, patients with ANCA-associated neuropathy in lSSc may be prone to complication with ILD.

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  91. Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant heterozygote. Reviewed International journal

    Chiaki Murase, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama

    The Journal of dermatology   Vol. 48 ( 4 ) page: E186 - E187   2021.4

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  92. Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid. Reviewed International journal

    Yuki Arisawa, Yasutoshi Ito, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Takuya Takeichi, Masashi Akiyama

    Acta dermato-venereologica   Vol. 101 ( 3 ) page: adv00423   2021.3

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  93. Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing. Reviewed International journal

    So Takeuchi, Takuya Takeichi, Yasutoshi Ito, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 31 ( 2 ) page: 264 - 265   2021.3

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    DOI: 10.1684/ejd.2021.4017

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  94. A case with overlapping features of IgG4-related autoimmune pancreatitis, Sjögren's syndrome and anti-aminoacyl-tRNA synthetase syndrome. Reviewed International journal

    Masato Yoshikawa, Yoshinao Muro, Mariko Ogawa-Momohara, Satoru Ito, Takuya Takeichi, Masashi Akiyama

    Modern rheumatology case reports   Vol. 5 ( 1 ) page: 82 - 86   2021.1

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    A 55-year-old man who had been diagnosed with autoimmune pancreatitis five years earlier was referred to our department because of finger swelling, finger stiffness and the presence of interstitial lung disease (ILD). The patient was diagnosed with Sjögren's syndrome according to the pathological findings of minor salivary glands and positive anti-SS-A antibodies. Later, at age 58, he was hospitalised due to the exacerbation of the ILD. Serum IgG4 level was checked and was found to be elevated (417 mg/dL). After the introduction of cyclosporine in addition to the prednisolone, at age 60, the ILD disease activity stabilised. However, at age 62, fever, myalgia and mechanic's hands appeared. His serum creatine kinase level was high, and magnetic resonance imaging showed inflammatory findings of muscle. In-house ELISA clarified that his serum carried anti-PL-7 antibody among anti-aminoacyl-tRNA synthetase antibodies. This is a unique case who had overlapping features of IgG4-related autoimmune pancreatitis, Sjögren's syndrome and anti-synthetase syndrome. Although the aetiology of the complications in this patient is obscure, autoimmunity might have played a significant role in the disease conditions and prognosis of the present case with IgG4-related disease.

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  95. A patient with CARD14-associated papulosquamous eruptions showing atopic dermatitis-like features. Reviewed International journal

    Takuya Takeichi, Shiho Terawaki, Yumiko Kubota, Yasutoshi Ito, Kana Tanahashi, Yoshinao Muro, Masashi Akiyama

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 35 ( 1 ) page: E58 - E59   2021.1

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    Caspase recruitment domain family member 14 (CARD14) is an activator of nuclear factor kappa-light-chain-enhancer in activated B cells (NF-κB) and contributes to inflammatory responses within the epidermis. CARD14 mutations are associated with autoinflammatory keratinization diseases, such as psoriasis and familial pityriasis rubra pilaris (PRP). Recently, Craiglow et al. proposed CARD14-associated papulosquamous eruption (CAPE), a spectrum that includes clinical features of psoriasis and PRP. Characteristic features of patients with CAPE include early onset, prominent facial involvement, and favorable response to ustekinumab therapy. Here, we describe a unique CAPE patient with atopic dermatitis (AD)-like features and extend the spectrum of CAPE.

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  96. Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab. Reviewed International journal

    Kazuya Akaji, Yukinobu Nakagawa, Kasumi Kakuda, Madoka Takafuji, Eiji Kiyohara, Chiaki Murase, Takuya Takeichi, Masashi Akiyama, Manabu Fujimoto

    The Journal of dermatology   Vol. 48 ( 1 ) page: E43 - E44   2021.1

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  97. Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases. Reviewed International journal

    Takuya Takeichi, Masashi Akiyama

    The Journal of dermatology   Vol. 48 ( 1 ) page: E24 - E25   2021.1

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    DOI: 10.1111/1346-8138.15612

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  98. Morphea in a Crohn's disease patient undergoing ustekinumab treatment. Reviewed International journal

    Misako Makihara-Inukai, Takuya Takeichi, Mariko Ogawa-Momohara, Yoshinao Muro, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 31 ( 1 ) page: 96 - 97   2021.1

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    DOI: 10.1684/ejd.2020.3956

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  99. A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma. Reviewed International journal

    Takenori Yoshikawa, Takuya Takeichi, Tomoo Ogi, Yasushi Suga, Yoshinao Muro, Masashi Akiyama

    Journal of dermatological science   Vol. 100 ( 2 ) page: 148 - 151   2020.11

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    DOI: 10.1016/j.jdermsci.2020.05.001

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  100. Anti-Zo antibodies in Japanese myositis patients detected by a newly developed ELISA. Reviewed International journal

    Yoshinao Muro, Takako Hashimoto, Shinyu Izumi, Mariko Ogawa-Momohara, Takuya Takeichi, Hiroyuki Yamashita, Hidekata Yasuoka, Masashi Akiyama

    Clinical and experimental rheumatology   Vol. 40 ( 2 ) page: 219 - 223   2020.10

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    OBJECTIVES: The myositis-specific autoantibodies that characterise certain forms of idiopathic inflammatory myopathy (IIM) are useful for diagnosing dermatomyositis (DM) / polymyositis (PM) and predicting its prognosis. The autoantibody to phenylalanyl-tRNA synthetase (anti-Zo) has been identified as a disease marker antibody for anti-synthetase syndrome only in a UK cohort. Here we aim to establish an ELISA for the measurement of anti-Zo and to characterise the clinical features of Japanese patients who have this autoantibody. METHODS: Anti-Zo was investigated by immunoprecipitation with recombinant phenylalanyl-tRNA synthetase α/β proteins. The results were confirmed by immunoprecipitation-Western blotting with cell extract. Sera from patients with DM/PM (n=224) were screened by an ELISA with the recombinant proteins. Medical records were retrospectively reviewed to obtain detailed information on the clinical phenotypes of the anti-Zo-positive patients. RESULTS: Only two male patients were confirmed to have anti-Zo. Both patients had fever, myopathy, interstitial lung disease, and mechanic's hands, and these clinical features are consistent with those of anti-synthetase syndrome. Another patient's serum showed a higher level than the cut-off value for anti-phenylalanyl-tRNA synthetase α by our in-house ELISA, but was judged to be negative for anti-Zo by immunoprecipitation-Western blotting. CONCLUSIONS: This is the first report of anti-Zo-positive IIM patients from Asia. Although Japanese patients with anti-Zo have a clinical phenotype similar to that of Caucasian patients, further large cohort studies are necessary to confirm the frequency of anti-Zo in Japanese IIM patients. Our newly developed ELISA should be validated for sensitivity and specificity in large cohorts.

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  101. Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis. International journal

    Yuya Murase, Takuya Takeichi, Kana Tanahashi, Hiroyuki Takama, Masashi Akiyama

    The Journal of dermatology   Vol. 47 ( 10 ) page: E362 - E364   2020.10

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  102. Reducing immunosuppressant use in patients with chronic inflammation during the COVID-19 pandemic: Risks versus benefits

    Mariko Ogawa-Momohara, Yoshinao Muro, Takuya Takeichi, Masashi Akiyama

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 3 ( 5 ) page: 120 - 121   2020.10

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    During the COVID-19 pandemic, clinicians are facing a difficult but important question: Should we try to reduce immunosuppressant use or postpone immunosuppressant therapies for newly diagnosed autoimmune disease patients with mild to moderate symptoms? We would like to alert your readership that although potential chronic inflammation itself is not always critical, it can trigger a hyper-inflammatory condition in patients who become infected with COVID-19. We should be careful when reducing immunosuppressant use.

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  103. Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1. International journal

    Yoshinao Muro, Mariko Ogawa-Momohara, Takuya Takeichi, Shusaku Fukaya, Hidekata Yasuoka, Michihiro Kono, Masashi Akiyama

    Journal of dermatological science   Vol. 100 ( 1 ) page: 82 - 84   2020.10

  104. Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case. International journal

    Kenta Ikeda, Takuya Takeichi, Yasutoshi Ito, Yoshio Kawakami, Yuki Nakagawa, Seiko Naito, Osamu Yamasaki, Masashi Akiyama, Shin Morizane

    The Journal of dermatology   Vol. 47 ( 10 ) page: E352 - E354   2020.10

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  105. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants. Reviewed International journal

    Tomoki Taki, Kana Tanahashi, Takuya Takeichi, Takenori Yoshikawa, Yuya Murase, Kazumitsu Sugiura, Masashi Akiyama

    JAMA dermatology   Vol. 156 ( 10 ) page: 1030 - 1032   2020.10

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    This nonrandomized clinical trial evaluates the association of topical minoxidil with hypotrichosis in patients with autosomal recessive woolly hair/hypotrichosis carrying LIPH pathogenic variants.

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  106. Exploration of biomarkers to predict clinical improvement of atopic dermatitis in patients treated with dupilumab: A study protocol. Reviewed International journal

    Takeshi Nakahara, Kenji Izuhara, Daisuke Onozuka, Satoshi Nunomura, Risa Tamagawa-Mineoka, Koji Masuda, Susumu Ichiyama, Hidehisa Saeki, Yudai Kabata, Riichiro Abe, Mamitaro Ohtsuki, Koji Kamiya, Tatsuro Okano, Tomomitsu Miyagaki, Yozo Ishiuji, Akihiko Asahina, Hiroshi Kawasaki, Keiji Tanese, Hiroshi Mitsui, Tatsuyoshi Kawamura, Takuya Takeichi, Masashi Akiyama, Emi Nishida, Akimichi Morita, Kyoko Tonomura, Yukinobu Nakagawa, Koji Sugawara, Chiharu Tateishi, Yoko Kataoka, Rai Fujimoto, Sakae Kaneko, Eishin Morita, Akio Tanaka, Michihiro Hide, Natsuko Aoki, Shigetoshi Sano, Haruna Matsuda-Hirose, Yutaka Hatano, Motoi Takenaka, Hiroyuki Murota, Norito Katoh, Masutaka Furue

    Medicine   Vol. 99 ( 38 ) page: e22043   2020.9

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    BACKGROUND: Atopic dermatitis (AD) is a common eczematous skin disorder that profoundly reduces the quality of life due to intractable pruritus. Excellent therapeutic success of the anti-interleukin 4 receptor-α antibody dupilumab in clinical trials and a real-world clinical context indicates the crucial roles of interleukin (IL)-4 and IL-13 in the pathogenesis of AD. Along with the clinical improvement in skin scores and pruritus, dupilumab significantly and progressively reduces and normalizes the upregulated expression of T helper type 2 signatures such as Chemokine (C-C motif) ligand (CCL)17, CCL18, CCL22, and CCL26 in the lesional skin of AD. However, no blood/serum biomarkers are known to predict good or poor outcome in patients with AD treated with dupilumab. METHODS: Patients are at least 18 years of age and have moderate-to-severe AD with Eczema Area and Severity Index (EASI) ≥16, Investigator's Global Assessment ≥3, and body surface area ≥10%. We are going to enroll more than 130 subjects from 18 medical facilities. Clinical objective findings will be evaluated by EASI. Subjective symptoms will be assessed by Patient-Oriented Eczema Measure, Numerical Rating Scale for Pruritus (Pruritus-NRS), Skin Comfort-NRS, and Treatment Satisfaction-NRS. We will measure 18 blood/serum biomarkers including % eosinophils in blood cell count, lactate dehydrogenase, total IgE, soluble interleukin 2 receptor, CCL17, CCL18, CCL22, CCL26, CCL27, IL-13, IL-22, IL-24, IL-25, IL-31, IL-33, thymic stromal lymphopoietin, periostin, and squamous cell carcinoma antigen-2. The clinical evaluation and biomarker sampling will be performed at 0, 2, 4, 8, and 16 weeks of dupilumab treatment. We will also perform proteomic analysis (of roughly 300 proteins) of the patients' sera obtained at 0 and 2 weeks of treatment. The primary endpoint is the association between "baseline levels of 18 biomarkers" and "% change from baseline of EASI at 16 weeks of dupilumab treatment." DISCUSSION: This is the first clinical trial to explore the biomarkers, including potential proteomic markers, most strongly associated with improvement in EASI in patients with moderate-to-severe AD treated with dupilumab for 16 weeks (B-PAD study). A limitation is that we will only enroll Japanese patients.

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  107. A case of systemic lupus erythematosus/systemic sclerosis overlap syndrome successfully treated with belimumab. International journal

    Mami Hara, Mariko Ogawa-Momohara, Yoshinao Muro, Takuya Takeichi, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 30 ( 5 ) page: 615 - 617   2020.9

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  108. Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr. Reviewed International journal

    Yuya Murase, Kana Tanahashi, Takuya Takeichi, Kazumitsu Sugiura, Akiteru Aiyama, Keigo Nishida, Teruyuki Mitsuma, Masashi Akiyama

    The Journal of dermatology   Vol. 47 ( 9 ) page: E336 - E339   2020.9

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  109. Late-onset Langerhans cell histiocytosis without extracutaneous involvement Reviewed

    Iwata, M; Takeichi, T; Muro, Y; Akiyama, M

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 3 ( 4 ) page: 94 - 95   2020.8

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  110. A case of pemphigus with anti-desmoglein 3 and anti-desmocollin 2 and 3 autoantibodies, associated with follicular lymphoma and bronchiolitis obliterans. Reviewed International journal

    Masato Yoshikawa, Takuya Takeichi, Tomoki Taki, Fumihiko Hayakawa, Norito Ishii, Takashi Hashimoto, Yoshinao Muro, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 30 ( 4 ) page: 424 - 425   2020.7

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  111. Recurrent KRT10 Variant in Ichthyosis with Confetti. Reviewed International coauthorship International journal

    Takuya Takeichi, Yasushi Suga, Takashi Mizuno, Yusuke Okuno, Daisuke Ichikawa, Michihiro Kono, John Y W Lee, John A McGrath, Masashi Akiyama

    Acta dermato-venereologica   Vol. 100 ( 14 ) page: adv00209 - 2   2020.7

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  112. SDR9C7 plays an essential role in skin barrier function by dehydrogenating acylceramide for covalent attachment to proteins International journal

    Takuya Takeichi

    Journal of Dermatological Science   Vol. 98 ( 2 ) page: 82 - 87   2020.5

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    © 2020 Japanese Society for Investigative Dermatology Among the components of the barrier structure of the stratum corneum in human skin, the corneocyte lipid envelope (CLE) is extremely important for the skin barrier. The importance of the CLE and esterified ω-hydroxy sphingosine (CerEOS), its main precursor, has been suggested from the fact that mutations in a number of genes involved in CerEOS synthesis and CLE formation have been identified as genetic causes of congenital ichthyoses, which are severe genetic skin disorders. However, the molecule/mechanism involved in the covalent binding of CerEOS to proteins on the outer surface of the cornified cell envelope had been a missing part. Very recently, we proposed new potential modes of protein binding by covalent reactions of CerEOS-epoxy-enone. We revealed the biochemical function of short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7), encoded by SDR9C7, as catalyzing the dehydrogenation of the lipoxygenase products that are esterified in CerEOS. Epoxy-enone produced by SDR9C7 covalently binds to proteins on the outer extracellular surface of the cornified cell envelope. Importantly, our recent striking findings were derived from the detailed lipid analysis of only one ARCI patient with SDR9C7 mutation. The combination of detailed analyses of precious samples from a rare patient and the establishment of corresponding animal models is an effective and powerful tool for analyzing rare inherited diseases. This review summarizes this newly revealed mechanism in skin barrier formation, describes the characteristic features of patients with SDR9C7 mutations, and introduces the clinical value of non-invasive analyses for patients with very rare intractable skin diseases.

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  113. 長島型掌蹠角化症とアトピー性皮膚炎が併存した1例

    垣生 美奈子, 武藤 潤, 藤井 由美子, 吉川 剛典, 武市 拓也, 秋山 真志, 佐山 浩二

    日本皮膚科学会雑誌   Vol. 130 ( 5 ) page: 1191 - 1191   2020.5

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  114. KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease International journal

    Takuya Takeichi, Masashi Akiyama

    Frontiers in Immunology   Vol. 11   page: 641 - 641   2020.4

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    © Copyright © 2020 Takeichi and Akiyama. Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic plaques, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists. Histologically, the affected skin shows hypertrophy and hyperplasia of the spinous, granular, and horny epidermal layers with mild infiltration of inflammatory cells in the upper dermis. There are 14 patients with KLICK syndrome described in the literature, and they all carry the same nucleotide deletion. Proteasome maturation protein (POMP), encoded by POMP, is an ubiquitously expressed protein that functions as a chaperone for proteasome maturation. KLICK syndrome is caused by a reduction in POMP levels that leads to proteasome insufficiency in differentiating keratinocytes. It is noteworthy that POMP is also known to be the causative gene for proteasome-associated autoinflammatory syndrome-2 (PRAAS2). It is considered that the disrupted proteasome assembly caused by the POMP mutation might lead to both skin inflammation and then hyperkeratosis in KLICK syndrome. Inflammation caused by the hyperactivation of innate immunity occasionally leads to inflammatory diseases of the skin, recently denoted as autoinflammatory keratinization diseases (AiKDs). We propose that KLICK syndrome caused by the specific 1-bp nucleotide deletion mutation in the regulatory region of POMP might be in a spectrum of proteasome-associated phenotypes.

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  115. Frequent FOXA1-activating mutations in extramammary Paget’s disease Reviewed International journal

    Takuya Takeichi, Yusuke Okuno, Takaaki Matsumoto, Nobuyuki Tsunoda, Kyogo Suzuki, Kana Tanahashi, Michihiro Kono, Toyone Kikumori, Yoshinao Muro, Masashi Akiyama

    Cancers   Vol. 12 ( 4 )   2020.4

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    © 2020 by the authors. Licensee MDPI, Basel, Switzerland. Extramammary Paget’s disease (EMPD) is a neoplastic skin disease of indeterminate origin with an unknown genetic cause. We performed a comprehensive genetic analysis or targeted gene sequencing in 48 patients with EMPD. We identified FOXA1 mutations, a GAS6–FOXA1 fusion gene, and somatic hotspot mutations in the FOXA1 promoter region in 11 of the 48 EMPD patients (11/48, 23%). Additional mutations were identified in PIK3CA (six patients) and in HIST1H2BB, HIST1H2BC, and SMARCB1 (one patient each), but none were found in other frequently mutated genes in cancer. A global gene expression analysis using EMPD clinical samples found the upregulation of PI3 kinase–AKT–mTOR signaling. ABCC11, which is specifically expressed in the apocrine secretory cells and is necessary for their sweat secretion, was upregulated in the EMPD samples. This upregulation suggests that Paget cells originate from apocrine secretory cells. Immunohistochemical staining revealed that FOXA1 expression was prevalent in all of the EMPD samples analyzed and was associated with estrogen receptor expression. Our genetic analysis indicates that EMPD frequently involves FOXA1 mutations. FOXA1 is a transcriptional pioneer factor for the estrogen receptor, and the present results suggest that certain treatments for hormone-dependent cancers could be effective for EMPD.

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  116. Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects International journal

    Takuya Takeichi, Masashi Akiyama

    American Journal of Clinical Dermatology   Vol. 21 ( 2 ) page: 227 - 236   2020.4

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    © 2019, Springer Nature Switzerland AG. Generalized pustular psoriasis (GPP) is a chronic, systemic inflammatory disease accompanied by high fever and general malaise. Diffuse erythema and swelling of the extremities occur, with multiple sterile pustules all over the body in GPP patients. GPP often relapses over the lifetime and can be life-threatening. Recent discoveries of the underlying molecular genetic basis of many cases of this disorder have provided major advances to clinicians and researchers towards an understanding of the pathomechanism of GPP. However, the therapeutic management of GPP still faces many challenges and much uncertainty, and an evidence-based review summarizing the available clinical data on the management of this heterogeneous disease is needed. The present review addresses challenges regarding the precise clinical diagnosis and evaluation of clinical symptoms in GPP. In addition, we update and briefly summarize the current understanding of molecular pathomechanisms behind GPP as an autoinflammatory keratinization disease. Recent publications have clarified the genetic backgrounds of patients with GPP and ethnic differences in predisposing factors. Although there are ethnic differences in the prevalences of these pathogenic alleles, from recent reports, at most 60.5% (IL36RN), 5.9% (CARD14), and 10.8% (AP1S3) of GPP patients have the mutations/variations of these genes. All the reported biologics studied seemed effective and relatively well tolerated. Although it is difficult to evaluate therapeutic efficacy from studies on just a few cases, recent findings suggest that biologics can be a useful, powerful tool for controlling skin and systemic inflammation in GPP and for improving the quality of life of GPP patients.

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  117. Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations International journal

    Chiaki Murase, Takuya Takeichi, Yusuke Okuno, Kyoko Ikumi, Akimichi Morita, Masashi Akiyama

    Journal of Dermatology   Vol. 47 ( 3 ) page: E87 - E88   2020.3

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  118. Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis International journal

    Marina Nishida, Takuya Takeichi, Michihiro Kono, Akiko Imanishi, Naoki Maekawa, Masashi Akiyama, Kazuyoshi Fukai

    Journal of Dermatology   Vol. 47 ( 3 ) page: E77 - E78   2020.3

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  119. 血清学的に抗BP230抗体単独陽性で、粘膜病変を有した水疱性類天疱瘡の1例

    滝 奉樹, 武市 拓也, 河野 通浩, 秋山 真志, 杉浦 一充, 椙村 有里子, 石井 文人, 橋本 隆

    日本皮膚科学会雑誌   Vol. 130 ( 3 ) page: 411 - 412   2020.3

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  120. A case of brain metastasis in HER2-negative extramammary Paget's disease. Reviewed International journal

    Yuki Maki-Inoue, Takuya Takeichi, Masaki Sawada, Shigeru Fujitani, Akiko Ohashi, Masashi Akiyama

    European journal of dermatology : EJD     2020.2

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  121. SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation Reviewed International journal

    Takuya Takeichi, Tetsuya Hirabayashi, Yuki Miyasaka, Akane Kawamoto, Yusuke Okuno, Shijima Taguchi, Kana Tanahashi, Chiaki Murase, Hiroyuki Takama, Kosei Tanaka, William E. Boeglin, M. Wade Calcutt, Daisuke Watanabe, Michihiro Kono, Yoshinao Muro, Junko Ishikawa, Tamio Ohno, Alan R. Brash, Masashi Akiyama

    Journal of Clinical Investigation   Vol. 130 ( 2 ) page: 890 - 903   2020.2

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    © 2020, American Society for Clinical Investigation. The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is important to the integrity of the permeability barrier in the stratum corneum, and its absence is a prime structural defect in various skin diseases associated with defective skin barrier function. SDR9C7 encodes a short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7) recently found mutated in ichthyosis. In a patient with SDR9C7 mutation and a mouse Sdr9c7-KO model, we show loss of covalent binding of epidermal ceramides to protein, a structural fault in the barrier. For reasons unresolved, protein binding requires lipoxygenase-catalyzed transformations of linoleic acid (18:2) esterified in ω-O-acylceramides. In Sdr9c7-/- epidermis, quantitative liquid chromatography-mass spectometry (LC-MS) assays revealed almost complete loss of a species of ω-Oacylceramide esterified with linoleate-9,10-trans-epoxy-11E-13-ketone; other acylceramides related to the lipoxygenase pathway were in higher abundance. Recombinant SDR9C7 catalyzed NAD+-dependent dehydrogenation of linoleate 9,10-trans-epoxy-11E-13-alcohol to the corresponding 13-ketone, while ichthyosis mutants were inactive. We propose, therefore, that the critical requirement for lipoxygenases and SDR9C7 is in producing acylceramide containing the 9,10-epoxy- 11E-13-ketone, a reactive moiety known for its nonenzymatic coupling to protein. This suggests a mechanism for coupling of ceramide to protein and provides important insights into skin barrier formation and pathogenesis.

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  122. A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease

    T. Takeichi, T. Matsumoto, T. Nomura, M. Takeda, H. Niwa, M. Kono, H. Shimizu, T. Ogi, M. Akiyama

    British Journal of Dermatology   Vol. 182 ( 2 ) page: 491 - 493   2020.2

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  123. Multifaceted analyses of epidermal serine protease activity in patients with atopic dermatitis Reviewed International journal

    Hayato Nomura, Mutsumi Suganuma, Takuya Takeichi, Michihiro Kono, Yuki Isokane, Ko Sunagawa, Mina Kobashi, Satoru Sugihara, Ai Kajita, Tomoko Miyake, Yoji Hirai, Osamu Yamasaki, Masashi Akiyama, Shin Morizane

    International Journal of Molecular Sciences   Vol. 21 ( 3 )   2020.2

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    © 2020 by the authors. Licensee MDPI, Basel, Switzerland. The serine proteases kallikrein-related peptidase (KLK) 5 and KLK7 cleave cell adhesion molecules in the epidermis. Aberrant epidermal serine protease activity is thought to play an important role in the pathogenesis of atopic dermatitis (AD). We collected the stratum corneum (SC) from healthy individuals (n = 46) and AD patients (n = 63) by tape stripping and then measuring the trypsin-and chymotrypsin-like serine protease activity. We also analyzed the p.D386N and p.E420K of SPINK5 variants and loss-of-function mutations of FLG in the AD patients. The serine protease activity in the SC was increased not only in AD lesions but also in non-lesions of AD patients. We found, generally, that there was a positive correlation between the serine protease activity in the SC and the total serum immunoglobulin E (IgE) levels, serum thymus and activation-regulated chemokine (TARC) levels, and peripheral blood eosinophil counts. Moreover, the p.D386N or p.E420K in SPINK5 and FLG mutations were not significantly associated with the SC's serine protease activity. Epidermal serine protease activity was increased even in non-lesions of AD patients. Such activity was found to correlate with a number of biomarkers of AD. Further investigations of serine proteases might provide new treatments and prophylaxis for AD.

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  124. A juvenile male case of dermatofibrosarcoma protuberans on the breast

    Y. Murase, T. Takeichi, T. Matsumoto, A. Sakakibara, M. Akiyama

    Clinical and Experimental Dermatology   Vol. 45 ( 1 ) page: 111 - 113   2020.1

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  125. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation Reviewed International journal

    Yuya Murase, Takuya Takeichi, Akane Kawamoto, Kana Tanahashi, Yusuke Okuno, Hiroyuki Takama, Eri Shimizu, Junko Ishikawa, Tomoo Ogi, Masashi Akiyama

    Journal of Dermatological Science   Vol. 97 ( 1 ) page: 50 - 56   2020.1

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    © 2019 Japanese Society for Investigative Dermatology Background: NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI). The physiological role of NIPAL4 and the pathogenetic mechanisms of ARCI caused by NIPAL4 mutations remain unclear. Objective: To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. Methods: We performed ultrastructural and immunohistochemical analyses of the skin. We used RNA sequencing to determine the mRNA expression in the skin of the patient and healthy individuals. We investigated ceramide components using tape stripped SC samples from the patient. Results: mRNA expression profiling in the patient's skin showed significant upregulation of IL-17/TNFα-related genes (IL17C, IL36A, IL36G, S100A7A, S100A9) and psoriasis hallmark genes (VNN3, LCE3D, PLA2G4D), and significant downregulation of lipid-associated genes (GAL, HAO2, FABP7). Ceramide analysis in the patient's SC revealed amounts of CER[NS] with carbon chain-length (C) 32–52 were increased, while amounts of most acylceramide with C66:2 - C72:2 were reduced relatively to those in healthy individuals. After the retinoid treatment, CER[NS] with carbon chains C46–54, CER[EOH] and CER[EOP] increased. Conclusion: IL-17C and IL-36 family cytokines might be involved in the pathogenetic process of ARCI with NIPAL4 mutations. Reduced amounts of the acylceramides in the SC are associated with the skin phenotype due to NIPAL4 mutations. Efficacy of the oral retinoid treatment might be due to restored amounts of CER[EOH] and CER[EOP] in the SC.

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  126. Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B International journal

    Kayoko Okuda, Emi Nishida, Kan Tori, Akihiro Matubara, Yoko Sagawa, Takuya Takeichi, Masashi Akiyama, Akimichi Morita

    Journal of Dermatology   Vol. 47 ( 1 ) page: E30 - E31   2020.1

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  127. A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only International journal

    T. Taki, T. Takeichi, M. Kono, K. Sugiura, Y. Sugimura, N. Ishii, T. Hashimoto, M. Akiyama

    British Journal of Dermatology   Vol. 182 ( 1 ) page: 221 - 223   2020.1

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  128. Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder

    T. Yoshikawa, T. Takeichi, Y. Suga, Y. Kitajima, M. Akiyama

    Journal of the European Academy of Dermatology and Venereology   Vol. 34 ( 1 ) page: E41 - E43   2020.1

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  129. Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis. Reviewed International journal

    Tomoki Taki, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama

    Acta dermato-venereologica   Vol. 99 ( 13 ) page: 1307 - 1308   2019.12

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  130. A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome

    T. Shiratori, T. Takeichi, M. Kono, M. Nishida, A. Imanishi, N. Maekawa, N. Kawamura, K. Fukai

    Clinical and Experimental Dermatology   Vol. 44 ( 7 ) page: E240 - E241   2019.10

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  131. Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient International journal

    Yuri Ishiguro, Yoshinao Muro, Chiaki Murase, Takuya Takeichi, Michihiro Kono, Runa Adachi, Kazuomi Takahashi, Masashi Akiyama

    Journal of Dermatology   Vol. 46 ( 10 ) page: E356 - E357   2019.10

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  132. Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome Reviewed

    Taki T., Takeichi T., Sugiura K., Akiyama M.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 139 ( 9 ) page: S248 - S248   2019.9

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  133. Brooke–Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis International journal

    Yuki Hattori, Takuya Takeichi, Masashi Akiyama, Mariko Seishima

    Journal of Dermatology   Vol. 46 ( 6 ) page: E200 - E202   2019.6

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  134. Unilateral case of multiple minute digitate hyperkeratosis International journal

    Satoko Okochi, Michihiro Kono, Hiromichi Takama, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    Journal of Dermatology   Vol. 46 ( 6 ) page: E210 - E211   2019.6

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  135. Acrodermatitis continua of Hallopeau with dense infiltration of IgG4-positive cells in the lesional dermis. Reviewed International journal

    Ogawa-Momohara M, Muro Y, Nakaguro M, Takeichi T, Kono M, Akiyama M

    The British journal of dermatology   Vol. 180 ( 4 ) page: 941 - 942   2019.4

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  136. Aberrant CARD14 function might cause defective barrier formation International journal

    Yuya Murase, Takuya Takeichi, Masashi Akiyama

    Journal of Allergy and Clinical Immunology   Vol. 143 ( 4 ) page: 1656 - 1657   2019.4

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    DOI: 10.1016/j.jaci.2018.11.044

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  137. Familial or sporadic porokeratosis as an autoinflammatory keratinization disease International journal

    Takuya Takeichi, Masashi Akiyama

    Journal of Dermatology   Vol. 46 ( 4 ) page: E125 - E126   2019.4

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  138. Case of adult-onset Still's disease with psoriasiform eruptions. Reviewed International journal

    Yasutoshi Ito, Takuya Takeichi, Toshiko Koide, Masashi Akiyama

    The Journal of dermatology   Vol. 46 ( 3 ) page: E109 - E110   2019.3

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  139. Hyaline vascular-type unicentric Castleman disease presenting as a subcutaneous nodule in a child. Reviewed International journal

    Takuya Hanamura, Michihiro Kono, Kenji Yokota, Takuya Takeichi, Kei Kohno, Shigeo Nakamura, Teruyuki Mitsuma, Kosei Nakajima, Yoshinao Muro, Masashi Akiyama

    The Journal of dermatology   Vol. 46 ( 3 ) page: E97 - E99   2019.3

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  140. The lipoxygenase-hepoxilin pathway is activated in cutaneous plaque lesions of psoriasis Reviewed

    Takeichi, T; Kinoshita, F; Tanaka, H; Fujita, S; Kobayashi, Y; Nakatochi, M; Sugiura, K; Akiyama, M

    JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY   Vol. 2 ( 1 ) page: 15 - 24   2019.2

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    Psoriasis is a common skin disorder that is characterized by hyperkeratosis, epidermal hyperplasia, T-cell and neutrophil recruitment, and changes in the vascular endothelial system. The several upregulated variable lipid mediators, including the eicosanoids, in psoriatic keratinocytes were described previously, although some results were contradictory. Since hepoxilin is less stable than other eicosanoids such as hydroxyeicosatetraenoic acid (HETE), the measurement of hepoxilin is difficult. In this study, to clarify the relationship between hepoxilin/hepoxilin-related fatty acid derivatives and psoriasis vulgaris, we evaluated the amount of production of lipid mediators including hepoxilins in skin tissues of patients with psoriasis vulgaris in comparison with normal controls by high-performance liquid chromatography/mass spectrometry. Most of the hepoxilins and related lipids evaluated in this study tended to be more abundant in the lesional skin from the psoriasis patient group (PPG) than in the skin from controls. Interestingly, 12R-HETE was markedly higher in the skin samples from the PPG. In addition, the lipids produced in the lipoxygenase pathway, including hepoxilin, were elevated in the skin lesions of the PPG compared with those of normal controls, whereas the lipids produced in the cyclooxygenase pathway were decreased in the skin lesions from the PPG. Our results suggest that an imbalance between the lipoxygenase and cyclooxygenase pathways may contribute to psoriatic pathomechanisms.

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  141. A novel missense mutation in the ABCA12 gene in Japanese siblings with congenital ichthyosis erythroderma Reviewed

    Kobashi H., Ishimoto T., Yamamoto M., Nakajima K., Takeichi T., Akiyama S., Sano S.

    Nishinihon Journal of Dermatology   Vol. 81 ( 5 ) page: 382 - 386   2019

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  142. [Successful treatment of pre-engraftment disseminated fusariosis with high-dose liposomal amphotericin B in a cord blood transplant recipient]. Reviewed

    Yasuhiko Harada, Makoto Murata, Akane Matsumoto, Daizo Kato, Tetsuya Yagi, Takashi Yaguchi, Takenori Yoshikawa, Takuya Takeichi, Masashi Akiyama, Yohei Yamaguchi, Daisuke Koyama, Seitaro Terakura, Tetsuya Nishida, Hitoshi Kiyoi

    [Rinsho ketsueki] The Japanese journal of clinical hematology   Vol. 60 ( 12 ) page: 1641 - 1646   2019

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    A 47-year-old man with acute myeloid leukemia and myelodysplastic-related changes relapsed after an allogenic bone marrow transplant and received a cord blood transplant as salvage therapy. The patient developed febrile neutropenia that was resistant to broad-spectrum antibiotics and multiple, painful, nodular skin lesions on his trunk and extremities before engraftment. A skin biopsy and blood culture found mold, and the subsequent microscopic examination, mass spectrometry, and DNA sequencing of the fungal colonies identified Fusarium solani. The patient's fever and skin lesions began to improve with the administration of liposomal amphotericin B at 5 mg/kg/day. Neutrophilic engraftment occurred on day 19. Stage 3 acute skin graft-versus-host disease was cured by the application of topical steroid. Unexpectedly, a change from liposomal amphotericin B to voriconazole on day 38 exacerbated the Fusarium infection. The Fusarium infection was finally cured by the administration of liposomal amphotericin B for a total of 19 weeks. Neutrophilic engraftment, an immediate definitive diagnosis, the sufficient and long-term administration of appropriate antifungal medication, and avoidance of the systemic administration of steroids might have contributed to the successful outcome of this patient.

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  143. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. Reviewed International journal

    Takuya Takeichi, Yusuke Okuno, Akane Kawamoto, Takeshi Inoue, Eiko Nagamoto, Chiaki Murase, Eri Shimizu, Kenichi Tanaka, Yuichi Kageshita, Satoshi Fukushima, Michihiro Kono, Junko Ishikawa, Hironobu Ihn, Yoshiyuki Takahashi, Masashi Akiyama

    Journal of lipid research   Vol. 59 ( 12 ) page: 2413 - 2420   2018.12

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    Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in de novo l-serine biosynthesis: PHGDH, PSAT1, and PSPH l-Serine is essential for the biosynthesis of phosphatidylserine and sphingolipids. The extracellular lipid of the stratum corneum, of which sphingolipid constitutes a significant part, plays a primary role in skin barrier function. Here, we describe a Japanese NLS pedigree with a previously unreported nonsense mutation in PHGDH and a unique inversion of chromosome 1. In addition, the levels of 11 major ceramide classes in the tape-stripped stratum corneum of the NLS patient's skin were assessed by LC/MS. Notably, lower amounts of ceramides of all classes were found in the patient's stratum corneum than in those of controls. This is the first report to demonstrate the reduction of ceramides in the stratum corneum of an NLS patient due to PHGDH mutations. The clinical findings and a detailed analysis of ceramides from the stratum corneum in the family extend the spectrum of clinical anomalies and give us a clue to the pathomechanisms of ichthyosis in NLS patients with phosphoglycerate dehydrogenase deficiency.

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  144. Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT. Reviewed International journal

    T Takeichi, K Sugiura, K Tanahashi, K Noda, M Kono, M Akiyama

    The British journal of dermatology   Vol. 179 ( 5 ) page: 1210 - 1211   2018.11

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    DOI: 10.1111/bjd.16895

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  145. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations. Reviewed

    Takeichi T, Honda A, Okuno Y, Kojima D, Kono M, Nakamura Y, Tohyama M, Tanaka T, Aoyama Y, Akiyama M

    The British journal of dermatology   Vol. 179 ( 5 ) page: 1186 - 1188   2018.11

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    DOI: 10.1111/bjd.16823

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  146. Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light. Reviewed

    Kono M, Niizawa M, Takeichi T, Muro Y, Akiyama M

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 32 ( 11 ) page: E413 - E416   2018.11

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  147. Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations. Reviewed International journal

    Chiaki Murase, Takuya Takeichi, Kazumitsu Sugiura, Miki Kobayashi, Kozue Shiomi, Kaichiro Ikebuchi, Yutaka Tsutsumi, Masashi Akiyama

    The Journal of dermatology   Vol. 45 ( 11 ) page: E303 - E304   2018.11

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  148. Dyschromatosis symmetrica hereditaria may be successfully controlled by topical sunscreen. Reviewed International journal

    Michihiro Kono, Takashi Okamoto, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 28 ( 6 ) page: 840 - 841   2018.11

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  149. Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup. Reviewed International journal

    Chiaki Murase, Takuya Takeichi, Akitaka Shibata, Masahiro Nakatochi, Fumie Kinoshita, Akiharu Kubo, Kimiko Nakajima, Norito Ishii, Hiroo Amano, Koji Masuda, Hiroshi Kawakami, Takuro Kanekura, Ken Washio, Masayuki Asano, Kazuya Teramura, Eijiro Akasaka, Mikiko Tohyama, Yutaka Hatano, Toyoko Ochiai, Shinichi Moriwaki, Tomotaka Sato, Akemi Ishida-Yamamoto, Mariko Seishima, Michiko Kurosawa, Shigaku Ikeda, Masashi Akiyama

    Journal of dermatological science   Vol. 92 ( 2 ) page: 127 - 133   2018.11

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    BACKGROUND: Congenital ichthyoses (CIs) adversely affect quality of life (QOL) in patients. However, the effects of CIs on patient QOL have not been studied sufficiently. OBJECTIVE: To investigate the association between disease severity and QOL in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (ISFs) METHODS: Clinical information of patients with HI and ISFs from 2010 to 2015 were obtained from 100 dermatology departments/divisions of principal institutes/hospitals throughout Japan. We examined the relationship between disease severity and QOL in patients with HI and ISFs. Patients who were aged 8 years or older and participated in a multicenter retrospective questionnaire survey in Japan were assessed by dermatology life quality index (DLQI, range of 0-30) and clinical ichthyosis score (range of 0-100). RESULTS: Netherton syndrome patients had a significantly higher risk of allergy to food or environmental allergens than patients with other phenotypes. Keratitis-ichthyosis-deafness (KID) syndrome patients showed a significantly higher risk of skin infections than patients with other phenotypes. Complete data on DLQI were obtained from 13 patients, whose median age was 21 (8-71) years. Nine patients were male, and 4 were female. Systemic retinoids were administrated to 2 of the 3 HI patients. The Spearman's correlation coefficient between the clinical ichthyosis score and DLQI was 0.611 (P < 0.05). CONCLUSION: We confirmed that Netherton syndrome and KID syndrome patients have a higher risk of allergy to food or environmental allergens and of skin infections, respectively. QOL impairment correlates with disease severity in HI and ISFs patients.

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  150. Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab. Reviewed International journal

    Manao Kinoshita, Takashi Okamoto, Shinya Sano, Hiroshi Mitsui, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama, Shinji Shimada, Tatsuyoshi Kawamura

    The Journal of dermatology   Vol. 45 ( 10 ) page: E280 - E281   2018.10

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  151. Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1. Reviewed International journal

    Kono M, Suganuma M, Shimada T, Ishikura Y, Watanabe S, Takeichi T, Muro Y, Akiyama M

    Journal of the European Academy of Dermatology and Venereology : JEADV   Vol. 32 ( 10 ) page: E394 - E396   2018.10

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  152. Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome. Reviewed

    Taki T, Takeichi T, Sugiura K, Akiyama M

    Scientific reports   Vol. 8 ( 1 ) page: 12824   2018.8

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    DOI: 10.1038/s41598-018-30757-3

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  153. Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression. Reviewed International journal

    Kono M, Suganuma M, Dutta A, Ghosh SK, Takeichi T, Muro Y, Akiyama M

    The British journal of dermatology   Vol. 179 ( 2 ) page: 509 - 511   2018.8

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    DOI: 10.1111/bjd.16610

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  154. Two cases of generalized pustular psoriasis complicated by IgG4-related disease. Reviewed

    Miyazawa H, Fujita Y, Iwata H, Ishikawa Y, Nishio S, Ishijima K, Shinmei Y, Takeichi T, Goto K, Oi R, Akiyama M, Shimizu H

    The British journal of dermatology   Vol. 179 ( 2 ) page: 537 - 539   2018.8

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  155. Eosinophilia and systemic symptoms with transient ageusia: a drug reaction caused by zonisamide. Reviewed International journal

    Runa Adachi, Michihiro Kono, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 28 ( 4 ) page: 523 - 524   2018.7

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  156. Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children. Reviewed International journal

    M Kono, M Akiyama, Y Inoue, T Nomura, A Hata, Y Okamoto, T Takeichi, Y Muro, W H I McLean, H Shimizu, K Sugiura, Y Suzuki, N Shimojo

    The British journal of dermatology   Vol. 179 ( 1 ) page: 190 - 191   2018.7

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  157. Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria. Reviewed

    Tomoko Kobayashi, Michihiro Kono, Mutsumi Suganuma, Hirotaka Akita, Ayaka Takai, Kiyohiro Tsutsui, Yu Inasaka, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    Nagoya journal of medical science   Vol. 80 ( 2 ) page: 267 - 277   2018.5

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    Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene (ADAR1) cause DSH. In the present study, we report five cases of DSH and identify a distinct known mutation in each patient. Furthermore, we review previously described cases with the five ADAR1 mutations found in the present study. We reviewed clinical and molecular findings in the present and previously reported cases and found an identical mutation can result in various phenotypic severities, even in one family. We found novel phenotype-genotype correlations between the presence/absence of facial lesions and the ADAR1 mutation c.3286C>T. The absence of freckle-like macules in the face was found to be more commonly associated with the mutation c.3286C>T than with the other 4 ADAR1 mutations (odds ratio = 0.056 [95% CI: 0.007-0.47, p < 0.005]). We objectively evaluated the severity of skin manifestations in the extremities using our definition of severity levels for such manifestations. This is the first semi-quantitative evaluation of skin manifestations in DSH. Using our definition, we found that patients with facial lesions with or without hypopigmented macules tend to show more severe symptoms on the extremities than patients without facials lesions show. Furthermore, no significant difference in the severity of the skin lesions was observed between the upper and the lower extremities, suggesting that sun exposure does not affect significantly the pathogenesis of DSH skin lesions.

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  158. National survey of quality of life and disease severity in patients with congenital ichthyosis

    Murase C., Takeichi T., Shibata A., Nakatochi M., Kinoshita F., Ikeda S., Kurosawa M., Akiyama M.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 138 ( 5 ) page: S44 - S44   2018.5

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    DOI: 10.1016/j.jid.2018.03.264

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  159. Impetigo herpetiformis with IL-36RN mutation successfully treated with secukinumab. Reviewed International journal

    Manao Kinoshita, Youichi Ogawa, Takuya Takeichi, Takashi Okamoto, Atsushi Osada, Shinji Shimada, Kazumitsu Sugiura, Masashi Akiyama, Tatsuyoshi Kawamura, Katsuhiko Tsukamoto

    European journal of dermatology : EJD   Vol. 28 ( 3 ) page: 381 - 382   2018.5

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  160. Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia.

    Maki Y, Takeichi T, Kono M, Tanaka Y, Akiyama M

    The Journal of dermatology     2018.3

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  161. An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.

    Oi R, Takeichi T, Okuno Y, Kojima D, Sugawara K, Kono M, Muramatsu H, Akiyama M

    Journal of dermatological science     2018.2

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    DOI: 10.1016/j.jdermsci.2018.01.017

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  162. Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.

    Akiyama M, Takeichi T, McGrath JA, Sugiura K

    Journal of dermatological science     2018.2

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    DOI: 10.1016/j.jdermsci.2018.01.012

    PubMed

  163. A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient. Reviewed International journal

    T Takeichi, C Katayama, T Tanaka, Y Okuno, N Murakami, M Kono, K Sugiura, Y Aoyama, M Akiyama

    The British journal of dermatology   Vol. 178 ( 2 ) page: E111 - E113   2018.2

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    DOI: 10.1111/bjd.15869

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  164. Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma. Reviewed International journal

    Sayaka Mizuno, Takuya Takeichi, Junichi Sato, Masanao Nakamura, Hidemi Goto, Kazumitsu Sugiura, Masashi Akiyama

    The Journal of dermatology   Vol. 45 ( 2 ) page: 238 - 240   2018.2

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    DOI: 10.1111/1346-8138.13851

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  165. Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma Reviewed

    T. Takeichi, S. Tomimura, Y. Okuno, M. Hamada, M. Kono, K. Sugiura, M. Akiyama

    Journal of the European Academy of Dermatology and Venereology   Vol. 32 ( 2 ) page: E75 - E77   2018.2

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    DOI: 10.1111/jdv.14531

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  166. Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

    Hanamura T, Takeichi T, Okuno Y, Ichikawa D, Kono M, Akiyama M

    The Journal of dermatology     2018.1

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    DOI: 10.1111/1346-8138.14241

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  167. Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride Reviewed

    M. Kono, M. Niizawa, T. Takeichi, Y. Muro, M. Akiyama

    Journal of the European Academy of Dermatology and Venereology   Vol. 32 ( 1 ) page: E19 - E20   2018.1

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    DOI: 10.1111/jdv.14439

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  168. Autoinflammatory keratinization diseases. Reviewed

    Akiyama M, Takeichi T, McGrath JA, Sugiura K.

    J Allergy Clin Immunol.   Vol. 140 ( 6 ) page: 1545-1547   2017.12

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  169. Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN Reviewed

    Y. Koike, M. Okubo, T. Kiyohara, R. Fukuchi, Y. Sato, S. Kuwatsuka, T. Takeichi, M. Akiyama, K. Sugiura, A. Utani

    British Journal of Dermatology   Vol. 177 ( 6 ) page: 1732 - 1736   2017.12

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    © 2017 British Association of Dermatologists Patients with deficiency of interleukin-36 receptor antagonist (DITRA), due to mutation of IL36RN, exhibit psoriatic phenotypes, typically generalized pustular psoriasis (GPP). We report a paediatric patient with DITRA, whose cutaneous lesions varied from psoriasis vulgaris in infancy to annular pustular psoriasis with acute exacerbation to GPP at 13 years of age. Conventional systemic treatments for GPP, which include oral retinoids, ciclosporin and methotrexate, are controversial in paediatric cases, because of their adverse effects and uncertain long-term consequences. Granulocyte monocyte apheresis, a process associated with few adverse events, promptly controlled the GPP of our paediatric patient, and has potential as a suitable alternative treatment for paediatric patients with DITRA.

    DOI: 10.1111/bjd.15509

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  170. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia. Reviewed

    Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA.

    J Invest Dermatol.   Vol. 137 ( 11 ) page: 2344-2353   2017.11

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    PubMed

  171. Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation. Reviewed

    Takeichi T, Kobayashi A, Ogawa E, Okuno Y, Kataoka S, Kono M, Sugiura K, Okuyama R, Akiyama M.

    Br J Dermatol.   Vol. 177 ( 4 ) page: e133-e135   2017.10

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    PubMed

  172. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation. Reviewed International journal

    Takuya Takeichi, Katsuhiko Tsukamoto, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Yasushi Suga, Masashi Akiyama

    Journal of dermatological science   Vol. 88 ( 1 ) page: 144 - 146   2017.10

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    DOI: 10.1016/j.jdermsci.2017.05.012

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  173. Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult-onset Still's disease. Reviewed International journal

    Takuya Takeichi, Naoki Watanabe, Yoshinao Muro, Shiho Teshigawara, Motoki Sato, Nobutaro Ban, Masashi Akiyama

    The Journal of dermatology   Vol. 44 ( 10 ) page: 1172 - 1175   2017.10

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    Adult-onset Still's disease (AOSD) is characterized by multiple systemic inflammation of unknown etiology. Although the typical eruption of AOSD is salmon-pink rheumatoid rash on the trunk and extremities, persistent pruritic papules and plaques have also been reported. Correlations between serum cytokines, including interleukin-6 and -18, and disease activity in AOSD have been reported. Activated signal transducer and activator of transcription 3 (STAT3) is transported into the nucleus, where it functions as a transcription factor that regulates genes involved in cell survival and inflammation. To assess whether STAT3 was phosphorylated in skin samples from AOSD patients, we conducted immunohistochemical analysis of affected and unaffected lesions from four AOSD patients in comparison with 10 normal controls. Quantitative analysis was conducted by measuring the ratio of epidermal keratinocytes with phosphorylated STAT3 (p-STAT3)-positive nuclei to total epidermal keratinocytes. p-STAT3 was found to be more strongly expressed in the nuclei in the epidermis of AOSD than in normal controls. Quantification of the data revealed significant differences in staining for p-STAT3 between AOSD and normal skin. Our findings suggest that phosphorylation of STAT3 may be a potential therapeutic target for AOSD.

    DOI: 10.1111/1346-8138.13888

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  174. Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation

    Takeichi T., Kobayashi A., Ogawa E., Okuno Y., Kataoka S., Kono M., Sugiura K., Okuyama R., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 4 ) page: E133-E135   2017.10

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    DOI: 10.1111/bjd.15442

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  175. Abscopal Effect of Local Irradiation Treatment for Diffuse Large B-cell Lymphoma. Reviewed International journal

    Yuri Hidaka, Takuya Takeichi, Yuichi Ishikawa, Mariko Kawamura, Masashi Akiyama

    Acta dermato-venereologica   Vol. 97 ( 9 ) page: 1140 - 1141   2017.10

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    is missing (Short communication).

    DOI: 10.2340/00015555-2729

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  176. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. Reviewed

    Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M.

    Br J Dermatol.   Vol. 177 ( 3 ) page: e62-e64   2017.9

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  177. A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline. Reviewed International journal

    Michihiro Kono, Yasushi Suga, Tomohiro Akashi, Yasutomo Ito, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama

    The Journal of investigative dermatology   Vol. 137 ( 9 ) page: 2024 - 2026   2017.9

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    DOI: 10.1016/j.jid.2017.04.036

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  178. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7

    Takeichi T., Nomura T., Takama H., Kono M., Sugiura K., Watanabe D., Shimizu H., Simpson M. A., McGrath J. A., Akiyama M.

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 3 ) page: E62-E64   2017.9

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    DOI: 10.1111/bjd.15315

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  179. A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. Reviewed International journal

    Runa Morita-Adachi, Takuya Takeichi, Yusuke Okuno, Shinsuke Kataoka, Shimpei Hoshino, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 27 ( 4 ) page: 438 - 439   2017.7

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    DOI: 10.1684/ejd.2017.3049

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  180. Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan Reviewed

    T. Takeichi, K. Tanahashi, T. Taki, M. Kono, K. Sugiura, M. Akiyama

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 177 ( 1 ) page: 290 - 292   2017.7

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    DOI: 10.1111/bjd.15070

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  181. Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation

    T. Taki, T. Takeichi, K. Sugiura, M. Akiyama

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 137 ( 5 ) page: S151 - S151   2017.5

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    DOI: 10.1016/j.jid.2017.02.908

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  182. Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation. Reviewed International journal

    Takuya Takeichi, Yusuke Okuno, Chiyo Saito, Daiei Kojima, Michihiro Kono, Akimichi Morita, Kazumitsu Sugiura, Masashi Akiyama

    Acta dermato-venereologica   Vol. 97 ( 4 ) page: 532 - 533   2017.4

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    DOI: 10.2340/00015555-2549

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  183. Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing Reviewed

    M. Kono, K. Fukai, N. Shimizu, J. Nagao, T. Takeichi, D. Tsuruta, K. Sugiura, M. Akiyama

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 3 ) page: E175 - E176   2017.3

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    DOI: 10.1111/jdv.13906

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  184. Successful treatment of a cutaneous ulcer due to cholesterol crystal embolization with topical basic fibroblast growth factor. Reviewed International journal

    Takuya Takeichi, Masashi Akiyama

    European journal of dermatology : EJD   Vol. 27 ( 2 ) page: 182 - 183   2017.3

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    DOI: 10.1684/ejd.2016.2920

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  185. Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. Reviewed International journal

    Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama

    Acta dermato-venereologica   Vol. 97 ( 3 ) page: 399 - 401   2017.3

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    DOI: 10.2340/00015555-2553

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  186. Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Reviewed

    Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA.

    Am J Hum Genet.   Vol. 100 ( 2 ) page: 364-370   2017.2

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  187. Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia. Reviewed International journal

    Masayo Sugimoto, Takuya Takeichi, Hideki Muramatsu, Daiei Kojima, Yukari Osada, Michihiro Kono, Seiji Kojima, Masashi Akiyama

    Acta dermato-venereologica   Vol. 97 ( 2 ) page: 277 - 278   2017.2

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    DOI: 10.2340/00015555-2501

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  188. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B Reviewed

    T. Takeichi, A. Nanda, H. -S. Yang, C. -K. Hsu, J. Y. -Y. Lee, H. Al-Ajmi, M. Akiyama, M. A. Simpson, J. A. McGrath

    BRITISH JOURNAL OF DERMATOLOGY   Vol. 176 ( 2 ) page: 534 - 536   2017.2

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    DOI: 10.1111/bjd.14845

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  189. Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation Reviewed

    M. Kono, K. Nishida, T. Takeichi, K. Sugiura, M. Akiyama

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 31 ( 2 ) page: E130 - E132   2017.2

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    DOI: 10.1111/jdv.13877

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  190. Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. Reviewed

    Takeichi T, Sugiura K, Nomura T, Sakamoto T, Ogawa Y, Oiso N, Futei Y, Fujisaki A, Koizumi A, Aoyama Y, Nakajima K, Hatano Y, Hayashi K, Ishida-Yamamoto A, Fujiwara S, Sano S, Iwatsuki K, Kawada A, Suga Y, Shimizu H, McGrath JA, Akiyama M.

    JAMA Dermatol.   Vol. 153 ( 1 ) page: 66-70   2017.1

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    DOI: 10.1001/jamadermatol.2016.3601.

  191. A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. Reviewed

    Takeichi T, Togawa Y, Okuno Y, Taniguchi R, Kono M, Matsue H, Sugiura K, Akiyama M.

    J Dermatol Sci.   Vol. 85 ( 1 ) page: 58-60   2017.1

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  192. Large intragenic KRT1 deletion underlying atypical autosomal dominant keratinopathic ichthyosis. Reviewed

    Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA.

    J Invest Dermatol.   Vol. 136 ( 10 ) page: 2095-2098   2016.10

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  193. Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation Reviewed

      Vol. 167 ( 1 ) page: 187-202   2016.9

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  194. Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. Reviewed

    Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K, Akiyama M.

    PLoS Genet   Vol. 10 ( 5 ) page: e1004276   2014.5

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    DOI: 10.1371/journal.pgen.1004276

  195. Mutations in the Grainyhead-like 2 transcription factor result in an autosomal recessive ectodermal dysplasia syndrome Reviewed

    Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WHI, Simpson MA, Parsons M, McGrath JA

    Am J Hum Genet   Vol. 95 ( 3 ) page: 308-314   2014.3

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  196. The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist Reviewed

    Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M

    J Invest Dermatol   Vol. 133 ( 11 ) page: 2514-2521   2013.11

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▼display all

Books 4

  1. 最新ガイドラインに基づく 皮膚疾患 診療指針 2023-24

    武市拓也( Role: Contributor ,  魚鱗癬)

    総合医学社  2023.5 

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    Language:Japanese

  2. 皮膚疾患診療実践ガイド

    武市拓也( Role: Contributor ,  「魚鱗癬」「後天性魚鱗癬」「先天性魚鱗癬様紅皮症」「毛孔性紅色粃糠疹」)

    文光堂  2022.5 

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    Total pages:788   Responsible for pages:493-499, 525, 526   Language:Japanese Book type:Textbook, survey, introduction

  3. New and Emerging Entities in Dermatology and Dermatopathology.

    Takuya Takeichi, Masashi Akiyama.( Role: Contributor ,  Autoinflammatory Keratinization Diseases.)

    Springer  2021.9  ( ISBN:978-3030800260

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    Total pages:530   Responsible for pages:1-18   Language:English Book type:Textbook, survey, introduction

  4. Autoinflammatory Keratinization Diseases

    Takeichi T., Akiyama M.

    New and Emerging Entities in Dermatology and Dermatopathology  2021.1  ( ISBN:9783030800260

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    Inflammation caused by the hyperactivation of innate immunity due to genetic factors occasionally leads to inflammatory cutaneous keratinization diseases. Such inflammatory keratinization diseases with genetic autoinflammatory mechanisms are called “autoinflammatory keratinization diseases” (AiKDs). We proposed a four-part definition of AiKDs. (i) The sites of primary and main inflammation are the epidermis and the upper dermis. (ii) The inflammation at these sites leads to hyperkeratosis, which is the main and characteristic phenotype of AiKDs. (iii) The primary genetic causative factors are associated with the hyperactivation of innate immunity (autoinflammation), mainly in the epidermis and upper dermis. (iv) The concept encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity. Several diseases have been categorized as AiKDs: pustular psoriasis and related disorders, pityriasis rubra pilaris, keratosis lichenoides chronica, hidradenitis suppurativa, porokeratosis, and keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome. The recognition of innate causative/predisposing issues and the exact assessment of their roles in disease etiology from the perspective of AiKDs promise to bring innovations that will provide more accurate, targeted, causal treatments for various AiKDs.

    DOI: 10.1007/978-3-030-80027-7_1

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MISC 176

  1. デュピルマブの長期使用によるアトピー性皮膚炎におけるアレルゲン特異的IgG4の増加

    桃原 真理子, 室 慶直, 村瀬 千晶, 滝 奉樹, 棚橋 華奈, 山下 雄太, 小泉 遼, 深浦 遼, 武市 拓也, 秋山 真志

    日本皮膚免疫アレルギー学会総会学術大会プログラム・抄録集   Vol. 53回   page: 203 - 203   2023.12

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    Language:Japanese   Publisher:(一社)日本皮膚免疫アレルギー学会  

  2. 角層脂質バリアと炎症のメカニズム

    武市 拓也

    日本皮膚免疫アレルギー学会総会学術大会プログラム・抄録集   Vol. 53回   page: 67 - 67   2023.12

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    Language:Japanese   Publisher:(一社)日本皮膚免疫アレルギー学会  

  3. Rosacea fulminans(劇症型酒さ)の1例

    浅川 理子, 小川 陽一, 島田 眞路, 川村 龍吉, 武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 11 ) page: 2616 - 2616   2023.10

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    Language:Japanese   Publisher:(公社)日本皮膚科学会  

  4. 歯内治療後に発症する異常疼痛,とくに神経障害性疼痛への新規治療法の確立

    清水 康平, 安川 拓也, 宮田 泰伎, 林 誠, 武市 収

    特定非営利活動法人日本歯科保存学会学術大会プログラムおよび講演抄録集   Vol. 159回   page: 130 - 130   2023.10

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    Language:Japanese   Publisher:(NPO)日本歯科保存学会  

  5. 【psoriatic disease~全身疾患へのアプローチ~】ステロイド投与を回避できた腎不全合併汎発性膿疱性乾癬の治療例

    宿院 梨衣, 小泉 遼, 武市 拓也, 室 慶直, 秋山 真志

    皮膚病診療   Vol. 45 ( 10 ) page: 896 - 899   2023.10

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    <文献概要>症例のポイント ・循環不全を呈した汎発性膿疱性乾癬(generalized pustular psoriasis:GPP)に対してビメキズマブが奏効した症例を経験した.・細菌性肺炎と腎不全を合併した膿疱性乾癬であったが,ビメキズマブと顆粒球単球吸着除去療法を併用することで副腎ステロイドの内服やエトレチナートを回避することができた.・GPPではインターロイキン(interleukin:IL)-17A/Fの両者を抑制することが有効と考えられた.

  6. 【psoriatic disease~全身疾患へのアプローチ~】ステロイド投与を回避できた腎不全合併汎発性膿疱性乾癬の治療例

    宿院 梨衣, 小泉 遼, 武市 拓也, 室 慶直, 秋山 真志

    皮膚病診療   Vol. 45 ( 10 ) page: 896 - 899   2023.10

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    Language:Japanese   Publisher:(株)協和企画  

    <文献概要>症例のポイント ・循環不全を呈した汎発性膿疱性乾癬(generalized pustular psoriasis:GPP)に対してビメキズマブが奏効した症例を経験した.・細菌性肺炎と腎不全を合併した膿疱性乾癬であったが,ビメキズマブと顆粒球単球吸着除去療法を併用することで副腎ステロイドの内服やエトレチナートを回避することができた.・GPPではインターロイキン(interleukin:IL)-17A/Fの両者を抑制することが有効と考えられた.

  7. SREBF1変異を有する先天性魚鱗癬IFAP症候群患者の角質層脂質組成解析

    水野 佑香, 城島 啓佑, 滝 奉樹, 武市 拓也, 秋山 真志, 木原 章雄

    日本生化学会大会プログラム・講演要旨集   Vol. 96回   page: [1T04a - 092)]   2023.10

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  8. Rosacea fulminans(劇症型酒さ)の1例

    浅川 理子, 小川 陽一, 島田 眞路, 川村 龍吉, 武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 11 ) page: 2616 - 2616   2023.10

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  9. 全エクソーム解析により遺伝子診断された単純型表皮水疱症(重症例)の1例 出生後管理の検討

    明石 憲佳, 武市 拓也, 野田 達宏, 室 慶直, 満間 照之, 秋山 真志

    臨床皮膚科   Vol. 77 ( 9 ) page: 683 - 687   2023.8

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    <文献概要>出生週数37週1日の経腟分娩の新生児(男児).出生時より四肢体幹に水疱,表皮剥離を認めた.患児の母,祖母にも同様のエピソードがあった.常染色体顕性(優性)遺伝形式の表皮水疱症を考えて,全エクソーム解析,および/または,Sangerシークエンシングによる病因遺伝子変異検索を行い,患児とその母親,母方祖母のケラチン14をコードする遺伝子KRT14にミスセンスバリアントc. 368A>G(p.(Asn123Ser))を同定し,単純型表皮水疱症(重症型)(旧病型分類名,Dowling-Meara型)と診断した.診断の結果を踏まえ,患部の洗浄,ワセリン塗布,創傷被覆材による保護などの保存的治療と,感染対策を行った.NICUでの感染対策,創部の管理など,表皮水疱症の保存的治療の注意点について,最近の知見を交えて考察し,報告する.表皮水疱症を疑った際には,速やかな診断の確定ならびに治療方針の決定や,遺伝カウンセリングのための病因遺伝子変異の同定と病型分類を目的とした全エクソーム解析が有効である.

  10. 【角化症を知る】セラミドと皮膚バリア機能

    武市 拓也

    皮膚科   Vol. 4 ( 2 ) page: 119 - 124   2023.8

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  11. AP1B1の複合ヘテロ接合性変異によるMEDNIK-like syndrome

    伊藤 靖敏, 武市 拓也, 竹内 想, 室 慶直, 秋山 真志, 猪狩 翔平, 森 龍彦, 山本 俊幸, 小野 敦史, 陶山 和秀, 細矢 光亮, 荻 朋男

    角化症研究会記録集   Vol. 37   page: 22 - 25   2023.7

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  12. 歯内療法への応用を考えたbiphasic calcium phosphate cementの基礎的研究 粒径の違いが硬化時間及び逆根管充填後の充填状態に及ぼす影響

    中村 健志, 林 誠, 安川 拓也, 藪原 佑季子, 井上 聖也, 菅原 明喜, 武市 収

    日本歯内療法学会学術大会プログラム・抄録集   Vol. 44回   page: 81 - 81   2023.7

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  13. KDSR遺伝子変異による,血小板減少症を伴った先天性魚鱗癬の1例

    村田 愛美, 戸井 洋一郎, 加持 達弥, 西村 裕, 武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 8 ) page: 1895 - 1896   2023.7

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  14. 叢状神経線維腫に対するMEK阻害剤セルメチニブの期待と注意事項

    西田 佳弘, 野々部 典枝, 城所 博之, 加藤 太一, 武市 拓也, 生田 国大, 今釜 史郎

    日本整形外科学会雑誌   Vol. 97 ( 6 ) page: S1427 - S1427   2023.6

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  15. 叢状神経線維腫に対するMEK阻害剤セルメチニブの期待と注意事項

    西田 佳弘, 野々部 典枝, 城所 博之, 加藤 太一, 武市 拓也, 生田 国大, 今釜 史郎

    日本整形外科学会雑誌   Vol. 97 ( 6 ) page: S1427 - S1427   2023.6

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  16. JAKと皮膚の炎症

    澤崎 百合香, 武市 拓也, 秋山 真志

    皮膚科   Vol. 3 ( 6 ) page: 714 - 718   2023.6

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  17. JAKと皮膚の炎症

    澤崎 百合香, 武市 拓也, 秋山 真志

    皮膚科   Vol. 3 ( 6 ) page: 714 - 718   2023.6

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  18. Conradi-Huenermann-Happle症候群の1例

    鈴木 謙仁, 中澤 慎介, 滝 奉樹, 武市 拓也, 船井 尚子, 谷口 章雄, 藤山 俊晴, 伊藤 泰介, 秋山 真志, 本田 哲也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1391 - 1391   2023.5

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  19. 再活性化Epstein-BarrウイルスはRANKLの産生を誘導する

    宮田 泰伎, 田村 隆仁, 大原 絹代, 安川 拓也, 林 誠, 武市 収

    特定非営利活動法人日本歯科保存学会学術大会プログラムおよび講演抄録集   Vol. 158回   page: 89 - 89   2023.5

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  20. 再活性化Epstein-BarrウイルスはRANKLの産生を誘導する

    宮田 泰伎, 田村 隆仁, 大原 絹代, 安川 拓也, 林 誠, 武市 収

    特定非営利活動法人日本歯科保存学会学術大会プログラムおよび講演抄録集   Vol. 158回   page: 89 - 89   2023.5

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  21. 先天性魚鱗癬の研究で解き明かす皮膚バリア

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1175 - 1175   2023.5

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  22. 先天性魚鱗癬の研究で解き明かす皮膚バリア

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1175 - 1175   2023.5

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  23. 二世代に渡って発症した膿疱性乾癬の症例

    坂井田 恵利, 磯部 里香子, 堀田 美麗, 村上 めぐみ, 花井 有里子, 満間 照之, 武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1392 - 1392   2023.5

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  24. 二世代に渡って発症した膿疱性乾癬の症例

    坂井田 恵利, 磯部 里香子, 堀田 美麗, 村上 めぐみ, 花井 有里子, 満間 照之, 武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1392 - 1392   2023.5

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  25. 乳房外パジェット病の発生機序を考察する

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1271 - 1271   2023.5

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  26. 乳房外パジェット病の発生機序を考察する

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1271 - 1271   2023.5

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  27. sPLA2-IIF/P-LPE経路はアトピー性皮膚炎を制御する

    平林 仁希, 天野 智仁, 三木 寿美, 武市 拓也, 秋山 真志, 村上 誠, 山本 圭

    脂質生化学研究   Vol. 65   page: 118 - 119   2023.5

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  28. sPLA2-IIF/P-LPE経路はアトピー性皮膚炎を制御する

    平林 仁希, 天野 智仁, 三木 寿美, 武市 拓也, 秋山 真志, 村上 誠, 山本 圭

    脂質生化学研究   Vol. 65   page: 118 - 119   2023.5

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  29. Conradi-Huenermann-Happle症候群の1例

    鈴木 謙仁, 中澤 慎介, 滝 奉樹, 武市 拓也, 船井 尚子, 谷口 章雄, 藤山 俊晴, 伊藤 泰介, 秋山 真志, 本田 哲也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1391 - 1391   2023.5

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  30. 自己炎症性角化症の診断と治療を学ぼう

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1245 - 1245   2023.5

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  31. 魚鱗癬の病態における表皮脂質異常・バリア障害と炎症との相互作用の解明

    秋山 真志, 武市 拓也, 棚橋 華奈, 滝 奉樹

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1428 - 1428   2023.5

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  32. 魚鱗癬の病態における表皮脂質異常・バリア障害と炎症との相互作用の解明

    秋山 真志, 武市 拓也, 棚橋 華奈, 滝 奉樹

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1428 - 1428   2023.5

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  33. 自己炎症性角化症の診断と治療を学ぼう

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 5 ) page: 1245 - 1245   2023.5

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  34. 【プライマリケア医に必要な情報をまるっと整理 くすりの使い方便利帳】(第2章)炎症,免疫,アレルギーに作用する薬剤 副腎皮質ステロイド 副腎皮質ステロイド(外用薬)

    小西 なつの, 武市 拓也

    内科   Vol. 131 ( 4 ) page: 604 - 607   2023.4

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    <文献概要>・副腎皮質ステロイド外用薬は多様な皮膚疾患に用いられている.・五つのランクに分類され,病状,外用部位,年齢によって使い分ける.・局所的な副作用に注意して使用する.・適切なランクの副腎皮質ステロイドを使用しても改善しない場合は,皮膚科専門医への紹介が望ましい.

    Other Link: https://search.jamas.or.jp/default/link?pub_year=2023&ichushi_jid=J00974&link_issn=&doc_id=20230414290022&doc_link_id=issn%3D0022-1961%26volume%3D131%26issue%3D4%26spage%3D604&url=http%3A%2F%2Fwww.pieronline.jp%2Fopenurl%3Fissn%3D0022-1961%26volume%3D131%26issue%3D4%26spage%3D604&type=PierOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00005_2.gif

  35. 特発性血小板減少性紫斑病、好酸球浸潤を呈した硬化性胆管炎を合併し、メポリズマブが奏功した好酸球性多発血管炎性肉芽腫症の1例

    山下 雄太, 武市 拓也, 石津 洋二, 鈴木 伸明, 坪井 崇, 松浦 健太郎, 小泉 遼, 室 慶直, 秋山 真志

    中部リウマチ   Vol. 52 ( 1 ) page: 28 - 28   2023.3

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  36. 先天性魚鱗癬の炎症制御に挑む

    武市 拓也

    日本皮膚科学会雑誌   Vol. 133 ( 3 ) page: 496 - 496   2023.3

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  37. 【角化症~角質の科学から考える~】道化師様魚鱗癬

    松井 響子, 吉川 剛典, 武市 拓也, 大河内 智子, 早川 昌弘, 秋山 真志

    皮膚病診療   Vol. 45 ( 3 ) page: 254 - 257   2023.3

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    <文献概要>症例のポイント ・出生直後からのNICU管理,早期からのレチノイド全身投与を行った.・胸郭挙上不良による換気障害があれば角層の減張切開を検討する.・指趾の虚血や拘縮が疑われれば,角層の減張切開を検討する.・救命とともに,後遺症を最小限に抑えることも肝要である.

  38. 新規ALOX12B遺伝子病的バリアントを認めた先天性魚鱗癬様紅皮症の1例

    前 琴絵, 梶田 藍, 川上 佳夫, 森実 真, 野田 達宏, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 133 ( 2 ) page: 262 - 262   2023.2

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  39. 当科における好酸球性多発血管炎性肉芽腫症に対するメポリズマブの使用経験と有効性の検討

    山下 雄太, 室 慶直, 小泉 遼, 桃原 真理子, 武市 拓也, 秋山 真志

    日本皮膚免疫アレルギー学会総会学術大会プログラム・抄録集   Vol. 52回   page: 217 - 217   2022.12

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  40. 経過観察中に水疱性類天疱瘡を発症した、MV遺伝子変異を有する高齢発症の汗孔角化症の2例

    有沢 友希, 武市 拓也, 伊藤 靖敏, 棚橋 華奈, 室 慶直, 荻 朋男, 秋山 真志

    加齢皮膚医学セミナー   Vol. 17 ( 2 ) page: 65 - 66   2022.12

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  41. 老人性乾皮症の病態におけるSDR9C7の果たす役割の解明

    武市 拓也, 棚橋 華奈, 秋山 真志

    加齢皮膚医学セミナー   Vol. 17 ( 2 ) page: 15 - 19   2022.12

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    老人性乾皮症は、皮脂および汗の分泌が減退し、皮膚が乾燥して光沢を失い粗造になった状態をいう。皮膚バリア機能の低下のため冬季では湿疹性病変を合併し、強いそう痒を伴うことがある。本研究では、老人性乾皮症ならびにアトピー性皮膚炎と診断された、既知のFLG遺伝子変異を有しない10名の患者の血液からDNAを抽出し、whole-exome sequence解析法を用いて、SDR9C7遺伝子のバリアント解析、SNP解析を行った。今回解析を行った老人性乾皮症ならびにアトピー性皮膚炎患者の10名の中には、SDR9C7遺伝子の変異/バリアントを有する症例は同定されなかった。本研究では、老人性乾皮症におけるSDR9C7分子の病態への関与は明らかにならなかった。今後、解析症例数を増やすことを検討している。(著者抄録)

  42. 老人性乾皮症におけるSDR9C7の病態解明

    武市 拓也

    加齢皮膚医学セミナー   Vol. 17 ( 2 ) page: 61 - 61   2022.12

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  43. 【手足の皮膚病】長島型掌蹠角化症とアトピー性皮膚炎の併存

    垣生 美奈子, 武藤 潤, 吉川 剛典, 武市 拓也, 秋山 真志, 佐山 浩二

    皮膚病診療   Vol. 44 ( 7 ) page: 618 - 621   2022.7

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    <文献概要>症例のポイント ・長島型掌蹠角化症とアトピー性皮膚炎が併存していた.・自験例においてSERPINB7遺伝子変異を同定した.

  44. 【好中球が関わる皮膚疾患update】膿疱性乾癬における好中球の関与update

    武市 拓也

    Derma.   ( 324 ) page: 27 - 31   2022.7

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    Language:Japanese   Publisher:(株)全日本病院出版会  

    汎発性膿疱性乾癬(generalized pustular psoriasis:GPP)は、寛解と増悪を繰り返し、ときに生命を脅かす、重篤で稀な炎症性皮膚疾患である。家族性GPPの原因がインターロイキン(IL)36受容体阻害因子の欠損であるという2011年の報告に始まり、近年、遺伝学的素因に関連したGPPの自己炎症性の側面が明らかになってきた。最近我々は、その自己炎症に着目し、GPPの一部を自己炎症性角化症として捉えることを提唱している。自己炎症性疾患の主な病態は自然免疫系の賦活化によるもので、好中球やリンパ球からのIL-1βやTNF-αなどの炎症性サイトカインを介して引き起こされる、皮膚を含む全身性の慢性炎症とされる。本稿では、最近報告されたGPPと好中球についての新知見を紹介するとともに、好中球関連皮膚疾患としてのGPPの病態メカニズムに迫る。(著者抄録)

  45. 14例の長島型掌蹠角化症における、SERPINB7創始者変異のアレル頻度の解析

    伊藤 靖敏, 武市 拓也, 棚橋 華奈, 吉川 剛典, 村瀬 友哉, 室 慶直, 秋山 真志, 池田 賢太, 森実 真, 川上 佳夫, 中村 保夫, 武藤 潤, 大磯 直毅, 清島 真理子, 川田 暁, 杉浦 一充, 須賀 康, 荻 朋男

    角化症研究会記録集   Vol. 36   page: 45 - 48   2022.6

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  46. 表皮融解性母斑の1例

    長井 拓哉, 河野 通浩, 菅沼 睦美, 武市 拓也, 秋山 真志, 松本 和彦

    角化症研究会記録集   Vol. 36   page: 8 - 10   2022.6

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  47. KRT2のmutation hotspotに変異を有する、表在性表皮融解性魚鱗癬の1家系

    鈴木 由以佳, 武市 拓也, 棚橋 華奈, 室 慶直, 秋山 真志, 須賀 康

    角化症研究会記録集   Vol. 36   page: 83 - 85   2022.6

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  48. 経過観察中に水疱性類天疱瘡を発症した、MV遺伝子変異を有する高齢発症の汗孔角化症の2例

    有沢 友希, 武市 拓也, 伊藤 靖敏, 棚橋 華奈, 室 慶直, 荻 朋男, 秋山 真志

    加齢皮膚医学セミナー   Vol. 17 ( 1 ) page: 74 - 75   2022.6

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  49. 表皮融解性母斑の1例

    長井 拓哉, 河野 通浩, 菅沼 睦美, 武市 拓也, 秋山 真志, 松本 和彦

    角化症研究会記録集   Vol. 36   page: 8 - 10   2022.6

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  50. 老人性乾皮症におけるSDR9C7の病態解明

    武市 拓也

    加齢皮膚医学セミナー   Vol. 17 ( 1 ) page: 70 - 70   2022.6

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  51. 14例の長島型掌蹠角化症における、SERPINB7創始者変異のアレル頻度の解析

    伊藤 靖敏, 武市 拓也, 棚橋 華奈, 吉川 剛典, 村瀬 友哉, 室 慶直, 秋山 真志, 池田 賢太, 森実 真, 川上 佳夫, 中村 保夫, 武藤 潤, 大磯 直毅, 清島 真理子, 川田 暁, 杉浦 一充, 須賀 康, 荻 朋男

    角化症研究会記録集   Vol. 36   page: 45 - 48   2022.6

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  52. Lipoid proteinosis小児例の皮膚粘膜症状

    井上 円, 足立 美穂, 久世 文也, 高木 肇, 武市 拓也, 伊藤 靖敏, 秋山 真志, 清島 真理子

    日本小児皮膚科学会雑誌   Vol. 41 ( 2 ) page: 141 - 145   2022.6

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    7歳男児。1歳頃より嗄声に気づき、6歳時に近医耳鼻科受診。声帯の結節性病変を指摘され、その後病理所見から慢性喉頭炎および軽度〜中等度異形成と診断された。7歳頃より両上眼瞼に白色を帯びた、直径約1mmの平滑な丘疹が数珠状に多数並ぶようになり、当科紹介受診。初診時、舌にも白色斑がみられた。眼瞼皮疹の病理では真皮乳頭に好酸性無構造物質が沈着していた。歯牙の異常なし。両親、妹弟に同症状はない。Extracellular matrix protein 1(ECM1)をコードするECM1遺伝子にホモ接合性c.879G>A変異あり、lipoid proteinosis(LP:リポイドタンパク症)と診断した。父親にはヘテロ接合性に同遺伝子変異があり、母親は野生型であった。3年間経過観察したところ、両頬粘膜に萎縮性白色斑が新たに出現した。本症は稀な疾患で特に小児例の報告は少ないことからその皮膚粘膜症状について報告する。(著者抄録)

  53. KRT2のmutation hotspotに変異を有する、表在性表皮融解性魚鱗癬の1家系

    鈴木 由以佳, 武市 拓也, 棚橋 華奈, 室 慶直, 秋山 真志, 須賀 康

    角化症研究会記録集   Vol. 36   page: 83 - 85   2022.6

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  54. 経過観察中に水疱性類天疱瘡を発症した、MV遺伝子変異を有する高齢発症の汗孔角化症の2例

    有沢 友希, 武市 拓也, 伊藤 靖敏, 棚橋 華奈, 室 慶直, 荻 朋男, 秋山 真志

    加齢皮膚医学セミナー   Vol. 17 ( 1 ) page: 74 - 75   2022.6

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  55. 老人性乾皮症におけるSDR9C7の病態解明

    武市 拓也

    加齢皮膚医学セミナー   Vol. 17 ( 1 ) page: 70 - 70   2022.6

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  56. Circinate and annular pustular psoriasisの1例

    榊原 絵美優, 岩田 昌史, 加来 洋, 大日 輝記, 武市 拓也

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1339 - 1339   2022.5

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  57. 軽症型シェーグレン・ラルソン症候群の女児例

    若本 裕之, 武市 拓也, 牧野 景, 水本 真奈美, 伊藤 靖敏, 秋山 真志

    脳と発達   Vol. 54 ( Suppl. ) page: S311 - S311   2022.5

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  58. 自己炎症性角化症の病態と多彩な臨床像

    武市 拓也

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1145 - 1145   2022.5

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  59. 自己炎症性角化症におけるプレシジョンメディシンの開発

    武市 拓也

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1377 - 1377   2022.5

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  60. Nlrp1機能獲得変異による自己炎症性角化症のモデルマウスの作成・病態解析と治療法の開発

    村瀬 友哉, 武市 拓也, 小関 準, 宮坂 勇輝, 室 慶直, 大野 民生, 島村 徹平, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1375 - 1375   2022.5

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  61. IL36RN遺伝子に複合ヘテロ接合変異を有する小児汎発性膿疱性乾癬(GPP)の1例

    片岡 晃希, 岩田 昌史, 江畑 葵, 加来 洋, 武市 拓也, 秋山 真志, 大日 輝記

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1309 - 1310   2022.5

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  62. Dorfman-Chanarin症候群の病態解明と新規治療薬の開発

    滝 奉樹, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1374 - 1374   2022.5

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  63. 自己炎症性角化症におけるプレシジョンメディシンの開発

    武市 拓也

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1377 - 1377   2022.5

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  64. 軽症型シェーグレン・ラルソン症候群の女児例

    若本 裕之, 武市 拓也, 牧野 景, 水本 真奈美, 伊藤 靖敏, 秋山 真志

    脳と発達   Vol. 54 ( Suppl. ) page: S311 - S311   2022.5

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  65. 自己炎症性角化症の病態と多彩な臨床像

    武市 拓也

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1145 - 1145   2022.5

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  66. Circinate and annular pustular psoriasisの1例

    榊原 絵美優, 岩田 昌史, 加来 洋, 大日 輝記, 武市 拓也

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1339 - 1339   2022.5

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  67. Nlrp1機能獲得変異による自己炎症性角化症のモデルマウスの作成・病態解析と治療法の開発

    村瀬 友哉, 武市 拓也, 小関 準, 宮坂 勇輝, 室 慶直, 大野 民生, 島村 徹平, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1375 - 1375   2022.5

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  68. IL36RN遺伝子に複合ヘテロ接合変異を有する小児汎発性膿疱性乾癬(GPP)の1例

    片岡 晃希, 岩田 昌史, 江畑 葵, 加来 洋, 武市 拓也, 秋山 真志, 大日 輝記

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1309 - 1310   2022.5

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  69. Dorfman-Chanarin症候群の病態解明と新規治療薬の開発

    滝 奉樹, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 5 ) page: 1374 - 1374   2022.5

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  70. NF1関連悪性末梢神経鞘腫瘍の予後改善をめざした科横断的診療体制の確立と運用

    西田 佳弘, 生田 国大, 夏目 敦至, 森川 真紀, 城所 博之, 野々部 典枝, 武市 拓也, 神戸 未来, 尾崎 紀夫, 今釜 史郎

    日本整形外科学会雑誌   Vol. 96 ( 3 ) page: S602 - S602   2022.3

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  71. 遺伝子解析で確定診断に至ったVorner型掌蹠角化症の親子例

    松本 香奈枝, 金子 栄, 竹内 想, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 3 ) page: 512 - 512   2022.3

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  72. 表皮融解性魚鱗癬の1例

    尾崎 雅史, 葉山 惟大, 藤田 英樹, 長野 伸彦, 土方 みどり, 棚橋 華奈, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 3 ) page: 512 - 512   2022.3

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  73. 点状掌蹠角化症の1例

    池田 賢太, 森実 真, 伊藤 靖敏, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 3 ) page: 511 - 512   2022.3

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  74. 新生児エリテマトーデス、小児シェーグレン症候群と鑑別を要したannular erythema of infancyの1例

    山下 雄太, 室 慶直, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 132 ( 3 ) page: 522 - 522   2022.3

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  75. 成人栄養障害型表皮水疱症患者を対象としたMuse細胞製品CL2020の国内1/2相試験 52週までの安全性の検討

    藤田 靖幸, 野原 拓馬, 高島 翔太, 夏賀 健, 中村 秀樹, 清水 宏, 足立 太起, 吉田 憲司, 石河 晃, 新熊 悟, 武市 拓也, 秋山 真志, 和田 理

    日本皮膚科学会雑誌   Vol. 132 ( 3 ) page: 510 - 510   2022.3

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  76. 【遺伝性疾患と遺伝カウンセリング】Conradi-Huenermann-Happle症候群

    守田 佑香, 武市 拓也, 畠山 未来, 青山 裕美, 秋山 真志

    皮膚病診療   Vol. 44 ( 3 ) page: 228 - 231   2022.3

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    <文献概要>症例のポイント ・Conradi-Huenermann-Happle(CHH)症候群は遺伝学的検査だけでなく,ステロール解析を行うことで,より正確な診断につながる.・CHH症候群の遺伝カウンセリングでは,X連鎖優性(顕性)の遺伝形式をとることに注意し,個々の症例に合わせたフォローが必要である.

  77. NF1関連悪性末梢神経鞘腫瘍の予後改善をめざした科横断的診療体制の確立と運用

    西田 佳弘, 生田 国大, 夏目 敦至, 森川 真紀, 城所 博之, 野々部 典枝, 武市 拓也, 神戸 未来, 尾崎 紀夫, 今釜 史郎

    日本整形外科学会雑誌   Vol. 96 ( 3 ) page: S602 - S602   2022.3

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  78. 乳房外パジェット病にみられるFOXA1遺伝子変異 Invited

    武市 拓也

    西日本皮膚科   Vol. 84 ( 1 ) page: 9 - 12   2022.2

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    乳房外パジェット病(EMPD)患者を集積し、包括的な遺伝子解析を行ったところ、EMPD全症例においてパジェット細胞の核にFOXA1が強く発現していることが分かった。EMPD細胞におけるFOXA1の高発現はホルモン依存性の癌でみられるような細胞増殖や生存を引き起こす可能性がある。EMPDにおけるFOXA1変異の頻度は乳癌に比較して高いため、FOXA1の発現異常に対する分子標的治療法の開発が期待される。

    Other Link: https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2022&ichushi_jid=J01003&link_issn=&doc_id=20220311230005&doc_link_id=1390573242795193088&url=https%3A%2F%2Fcir.nii.ac.jp%2Fcrid%2F1390573242795193088&type=CiNii&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00003_3.gif

  79. 二種類の穿孔性皮膚症を発症した高齢者の一例

    岩田 真衣, 村瀬 友哉, 武市 拓也, 棚橋 華奈, 高間 寛之, 山田 元人, 秋山 真志

    加齢皮膚医学セミナー   Vol. 16 ( 2 ) page: 44 - 44   2021.12

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  80. 3剤併用療法が奏功した抗MDA5抗体陽性間質性肺炎合併皮膚筋炎の1例

    今井 聡子, 原 真望, 池谷 宗一郎, 武市 拓也, 室 慶直, 秋山 真志, 速井 俊策, 福谷 衣里子

    日本皮膚科学会雑誌   Vol. 131 ( 8 ) page: 1895 - 1895   2021.7

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  81. 四肢関節背面と臀裂部にも皮疹を呈した抗ARS抗体陽性皮膚筋炎の1例

    牧原 実紗子, 桃原 真理子, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 8 ) page: 1894 - 1894   2021.7

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  82. X連鎖性劣性魚鱗癬、尋常性魚鱗癬、アトピー性皮膚炎の合併例

    中根 啓允, 吉川 剛典, 武市 拓也, 秋山 真志, 河野 通浩

    日本皮膚科学会雑誌   Vol. 131 ( 8 ) page: 1894 - 1894   2021.7

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  83. dupilumabが奏功したNetherton症候群の1例

    秋山 真志, 村瀬 千晶, 滝 奉樹, 武市 拓也, 須賀 康

    日本皮膚科学会雑誌   Vol. 131 ( 8 ) page: 1893 - 1894   2021.7

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  84. 四肢関節背面と臀裂部にも皮疹を呈した抗ARS抗体陽性皮膚筋炎の1例

    牧原 実紗子, 桃原 真理子, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 8 ) page: 1894 - 1894   2021.7

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  85. 【古くて新しい自己炎症性角化症】(Part1.)症例からみる自己炎症性角化症(case10) 汗孔角化症、播種状表在性汗孔角化症(MVKなどの変異による)

    牧原 実紗子, 武市 拓也

    Visual Dermatology   Vol. 20 ( 7 ) page: 709 - 711   2021.6

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  86. 二種類の穿孔性皮膚症を発症した高齢者の一例

    岩田 真衣, 村瀬 友哉, 武市 拓也, 棚橋 華奈, 高間 寛之, 山田 元人, 秋山 真志

    加齢皮膚医学セミナー   Vol. 16 ( 1 ) page: 54 - 54   2021.6

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  87. 【古くて新しい自己炎症性角化症】(Part1.)症例からみる自己炎症性角化症(case7) 毛孔性紅色粃糠疹(CARD14変異による)

    村上 めぐみ, 武市 拓也

    Visual Dermatology   Vol. 20 ( 7 ) page: 696 - 699   2021.6

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  88. 遺伝性皮膚疾患研究の最前線

    武市 拓也

    日本皮膚科学会雑誌   Vol. 131 ( 5 ) page: 1181 - 1181   2021.5

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  89. 遺伝性対側性色素異常症の孤発例

    鈴木 由以佳, 棚橋 華奈, 武市 拓也, 河野 通浩, 秋山 真志, 小粥 雅明

    日本皮膚科学会雑誌   Vol. 131 ( 5 ) page: 1362 - 1362   2021.5

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  90. 表皮脂質関連遺伝子の異常による先天性魚鱗癬の病態解明と新規治療法の開発

    棚橋 華奈, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 5 ) page: 1429 - 1429   2021.5

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  91. 好中球関連皮膚疾患 Up to date 好中球関連皮膚疾患としての汎発性膿疱性乾癬

    武市 拓也

    日本皮膚科学会雑誌   Vol. 131 ( 5 ) page: 1296 - 1296   2021.5

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  92. 全身性強皮症との鑑別を要したPalmar fasciitis and polyarthritis syndromeの1例

    山下 雄太, 室 慶直, 福澤 沙麗, 桃原 真理子, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 5 ) page: 1402 - 1402   2021.5

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  93. 【好中球が関与する皮膚病】掌蹠膿疱症治療中に膿疱性乾癬を発症し,グセルクマブが奏効した例

    今井 聡子, 澤 美麗, 吉川 真人, 井上 優貴, 武市 拓也, 澤田 昌樹

    皮膚病診療   Vol. 43 ( 5 ) page: 448 - 451   2021.5

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    <文献概要>症例のポイント ・膿疱性乾癬の初期症状として掌蹠膿疱症の臨床所見を呈し,グセルクマブが奏効した.・掌蹠膿疱症と膿疱性乾癬は類縁疾患と示唆された.

  94. 【好中球が関与する皮膚病】掌蹠膿疱症治療中に膿疱性乾癬を発症し,グセルクマブが奏効した例

    今井 聡子, 澤 美麗, 吉川 真人, 井上 優貴, 武市 拓也, 澤田 昌樹

    皮膚病診療   Vol. 43 ( 5 ) page: 448 - 451   2021.5

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    <文献概要>症例のポイント ・膿疱性乾癬の初期症状として掌蹠膿疱症の臨床所見を呈し,グセルクマブが奏効した.・掌蹠膿疱症と膿疱性乾癬は類縁疾患と示唆された.

    Other Link: https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2021&ichushi_jid=J01268&link_issn=&doc_id=20210428580014&doc_link_id=20210727480027&url=http%3A%2F%2Fsearch.jamas.or.jp%2Flink%2Fbc%2F20210727480027&type=jamaslink&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F99999_1.gif

  95. 全身性強皮症との鑑別を要したPalmar fasciitis and polyarthritis syndromeの1例

    山下 雄太, 室 慶直, 福澤 沙麗, 桃原 真理子, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 5 ) page: 1402 - 1402   2021.5

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  96. 【最近のトピックス2021 Clinical Dermatology 2021】皮膚疾患の病態 SDR9C7と角質細胞脂質エンベロープ

    武市 拓也

    臨床皮膚科   Vol. 75 ( 5 ) page: 51 - 55   2021.4

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    <文献概要>角質細胞脂質エンベロープ(corneocyte lipid envelope:CLE)がしっかりと機能することで,蛋白質と脂質という異質な成分をつなぎ,強固な皮膚バリアを維持することができる.CLE形成に関わる分子をコードする遺伝子の変異により,皮膚バリア機能異常の代表的な疾患である先天性魚鱗癬が引き起こされる.CLEは結合型セラミドを主成分とするが,そのセラミドがCLEを形成する際に周辺帯蛋白質と結合するメカニズムは,これまで不明であった.われわれは,先天性魚鱗癬の原因遺伝子の1つのSDR9C7にコードされるSDR9C7が産生する,ケトン体の脂肪酸を持つアシルセラミドが,特定の酵素反応を必要とせずに周辺帯蛋白質と結合することを明らかにした.魚鱗癬患者が有する変異型SDR9C7の機能障害がCLEの形成不全をきたし,魚鱗癬を発症すると考えられる.SDR9C7を標的とした新規治療法の開発が期待される.

  97. 掌蹠膿疱症の治療中に汎発型膿疱性乾癬を発症し、水疱性類天疱瘡を合併した1例

    野崎 尋意, 小松 成綱, 橋本 喜夫, 芝木 光, 武市 拓也, 石井 文人

    日本皮膚科学会雑誌   Vol. 131 ( 3 ) page: 540 - 540   2021.3

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  98. GJB2遺伝子のヘテロ接合性変異を同定したVohwinkel症候群の1例

    池田 賢太, 中川 裕貴, 内藤 聖子, 川上 佳夫, 山崎 修, 森実 真, 伊藤 靖敏, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 2 ) page: 363 - 363   2021.2

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  99. 高齢者に発症した皮膚限局Langerhans細胞組織球症の1例

    岩田 真衣, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 2 ) page: 374 - 374   2021.2

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  100. ウステキヌマブ投与中のクローン病患者に生じた限局性強皮症

    牧原 実紗子, 武市 拓也, 桃原 真理子, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 131 ( 1 ) page: 113 - 113   2021.1

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  101. シェーグレン症候群の経過中に抗U1-RNP抗体の陽転化と肺高血圧症の発症を認めた2症例

    玉腰 和, 桃原 真理子, 吉田 雅博, 室 慶直, 武市 拓也, 秋山 真志, 中野 嘉久

    日本皮膚科学会雑誌   Vol. 131 ( 1 ) page: 113 - 113   2021.1

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  102. 水疱性類天疱瘡を合併した汗孔角化症の1例

    有沢 友希, 武市 拓也, 棚橋 華奈, 秋山 真志

    皮膚の科学   Vol. 19 ( 4 ) page: 270 - 270   2020.12

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  103. 水疱性類天疱瘡を合併した汗孔角化症の1例

    有沢 友希, 武市 拓也, 棚橋 華奈, 秋山 真志

    皮膚の科学   Vol. 19 ( 4 ) page: 270 - 270   2020.12

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  104. LIPH創始者変異により偽性優性遺伝形式を示した先天性乏毛症の1家系

    滝 奉樹, 棚橋 華奈, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 130 ( 12 ) page: 2585 - 2585   2020.11

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  105. アトピー性皮膚炎患者における表皮セリンプロテアーゼ活性の多角的解析

    森実 真, 野村 隼人, 三宅 智子, 平井 陽至, 山崎 修, 菅沼 睦美, 武市 拓也, 秋山 真志, 河野 通浩

    日本皮膚科学会雑誌   Vol. 130 ( 12 ) page: 2584 - 2584   2020.11

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  106. CARD14遺伝子変異をもつ小児膿疱性乾癬の1例

    寺脇 志帆, 久保田 由美子, 田原 典子, 武市 拓也

    西日本皮膚科   Vol. 82 ( 5 ) page: 390 - 391   2020.10

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  107. 耳輪慢性結節性軟骨皮膚炎を合併した反応性穿孔性膠原線維症の1例

    岩田 真衣, 村瀬 友哉, 武市 拓也, 棚橋 華奈, 秋山 真志, 高間 寛之

    日本皮膚科学会雑誌   Vol. 130 ( 9 ) page: 2091 - 2091   2020.8

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  108. 顔面・両下肢に紫斑を認めたIgA血管炎の1例

    竹中 花予, 桃原 真理子, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 130 ( 9 ) page: 2090 - 2090   2020.8

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  109. ベリムマブが奏功したSLE/強皮症overlap症候群の1例

    原 真望, 桃原 真理子, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 130 ( 9 ) page: 2090 - 2090   2020.8

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  110. 有棘細胞癌を合併したtrichothiodystrophy、complementation group Aの1例

    大野 由以佳, 武市 拓也, 富村 沙織, 河野 通浩, 杉浦 一充, 秋山 真志

    西日本皮膚科   Vol. 82 ( 3 ) page: 222 - 222   2020.6

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  111. 長島型掌蹠角化症とアトピー性皮膚炎が併存した1例

    垣生 美奈子, 武藤 潤, 藤井 由美子, 吉川 剛典, 武市 拓也, 秋山 真志, 佐山 浩二

    日本皮膚科学会雑誌   Vol. 130 ( 5 ) page: 1191 - 1191   2020.5

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  112. 血清学的に抗BP230抗体単独陽性で、粘膜病変を有した水疱性類天疱瘡の1例

    滝 奉樹, 武市 拓也, 河野 通浩, 秋山 真志, 杉浦 一充, 椙村 有里子, 石井 文人, 橋本 隆

    日本皮膚科学会雑誌   Vol. 130 ( 3 ) page: 411 - 412   2020.3

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  113. 臨床研究を楽しもう Gene huntingを楽しむ

    武市 拓也

    日本皮膚科学会雑誌   Vol. 130 ( 1 ) page: 76 - 77   2020.1

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  114. 【プレシジョンメディシンを迎える皮膚科領域】遺伝性角化症とプレシジョンメディシン

    武市 拓也

    Precision Medicine   Vol. 3 ( 1 ) page: 22 - 25   2020.1

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    遺伝性角化症の病因遺伝子変異の解明は、次世代シークエンシング技術の登場により新たな局面を迎えている。全エクソームシークエンシングによる網羅的遺伝子変異検索法は、遺伝子診断の効率を向上させ、同時に、各々の遺伝性角化症患者の病状に合わせた、いわゆるオーダーメイド治療に繋がる多くの発見をもたらした。本稿では、近年蓄積された遺伝性角化症に関する新しい知見やエビデンスを基に、個々の遺伝性角化症症例に最適な医療を届けるための道筋を、いくつかの疾患群に焦点を絞り、今後の方向性も含めて概説する。(著者抄録)

  115. ANCA関連血管炎性ニューロパチーを合併した、抗トポイソメラーゼI抗体陽性の全身性強皮症の1例

    竹中 花予, 武市 拓也, 室 慶直, 秋山 真志, 鈴木 将史, 仁紫 了爾, 勝野 雅央

    日本皮膚科学会雑誌   Vol. 130 ( 1 ) page: 103 - 103   2020.1

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  116. 自己炎症性角化症の病態解明と新規治療法の開発

    武市 拓也

    上原記念生命科学財団研究報告集   Vol. 33   page: 1 - 3   2019.12

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  117. 臍帯血移植生着前に発症し高用量liposomal amphotericin Bで救命しえた播種性Fusarium感染症

    原田 靖彦, 村田 誠, 松本 あかね, 加藤 大三, 八木 哲也, 矢口 貴志, 吉川 剛典, 武市 拓也, 秋山 真志, 山口 洋平, 小山 大輔, 寺倉 精太郎, 西田 徹也, 清井 仁

    臨床血液   Vol. 60 ( 12 ) page: 1641 - 1646   2019.12

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    骨髄移植後に再発した骨髄異形成関連変化を伴う急性骨髄性白血病患者(47歳,男性)に臍帯血移植を実施した。生着前に広域抗菌薬不応の発熱性好中球減少症および全身性の有痛性結節が出現した。皮膚生検と血液培養で糸状菌を認め真菌血症と診断,さらに培養コロニーの検鏡,質量分析,塩基配列決定からFusarium solaniによる播種性感染症と確定診断した。Liposomal amphotericin B(L-AMB)5mg/kg/日の投与により熱型と皮疹は改善し始めた。Day19に生着し,皮膚急性移植片対宿主病stage3は外用ステロイド剤で寛解した。Day38にvoriconazoleへ変更したところFusarium感染症は増悪した。その後はL-AMB計19週間の投与で治癒した。生着前の播種性Fusarium感染症は極めて予後不良である。本症例では,好中球の生着に加え,速やかな確定診断,適切な抗真菌薬の選択,その十分量かつ長期間の投与,ステロイド剤全身投与回避などが功を奏したと考えられた。(著者抄録)

  118. 日本人膠原病患者における抗cytosolic 5'-nucleotidase 1A抗体

    室 慶直, 中西 浩隆, 勝野 雅央, 武市 拓也, 秋山 真志

    日本皮膚免疫アレルギー学会雑誌   Vol. 3 ( 1 ) page: 236 - 236   2019.11

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  119. 毛孔性紅色粃糠疹様の臨床像を呈し新規ABCA12遺伝子変異を認めた魚鱗癬様紅皮症の姉弟例

    小橋 陽加, 石元 達士, 山本 真有子, 中島 喜美子, 武市 拓也, 秋山 真志, 佐野 栄紀

    西日本皮膚科   Vol. 81 ( 5 ) page: 382 - 386   2019.10

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    症例1:43歳,男性。両親は血族婚。小児期より顔面を含む全身に角化性紅斑を生じた。近医で毛孔性紅色粃糠疹と診断され,ステロイド外用やエトレチナート内服等で加療された。成長と共に顔面,体幹の紅斑は自然に軽快したが,掌蹠の過角化は残存していた。当科初診時,下顎,両耳介,前胸部に境界明瞭な鱗屑性紅斑および掌蹠の著明な角化を認めた。病理組織では過角化と表皮肥厚を認め,顆粒層は一部で消失しており,毛孔一致性に角栓形成を認めた。全身narrow band ultraviolet B(NB-UVB),掌蹠に対してはターゲット型NB-UVBの照射療法,エトレチナート再投与により皮疹は軽快した。症例2:45歳,女性。症例1の姉。生下時より掌蹠に角質増殖がみられ,成長と共に全身に紅斑と落屑が拡大した。エトレチナート,シクロスポリン内服で加療したところ,皮疹は掌蹠にわずかな角質増殖と,膝蓋に角質増殖を残すのみとなった。2症例とも,毛孔性紅色粃糠疹と一旦診断したが,whole-exome-sequencing解析の結果,ABCA12遺伝子に新規のミスセンス変異(c.4601C>T,p.Thr1534Met)をホモ接合体で認め,先天性魚鱗癬様紅皮症と改めて診断した。毛孔性紅色粃糠疹と先天性魚鱗癬様紅皮症の鑑別診断には遺伝子検査が有用であると考えた。(著者抄録)

  120. CYLD遺伝子に新規変異を認め、慢性炎症性疾患を併発したBrooke-Spiegler症候群の1例

    服部 有希, 太和田 知里, 加納 宏行, 小林 一博, 武市 拓也, 秋山 真志, 清島 真理子

    西日本皮膚科   Vol. 81 ( 3 ) page: 243 - 243   2019.6

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  121. CYLD遺伝子に新規変異を認め、慢性炎症性疾患を併発したBrooke-Spiegler症候群の1例

    服部 有希, 太和田 知里, 加納 宏行, 小林 一博, 武市 拓也, 秋山 真志, 清島 真理子

    西日本皮膚科   Vol. 81 ( 3 ) page: 243 - 243   2019.6

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  122. 高齢者の右頬部に生じたatypical fibroxanthomaの1例

    石黒 裕梨, 武市 拓也, 秋山 真志, 宮 一朗

    日本皮膚科学会雑誌   Vol. 129 ( 6 ) page: 1360 - 1360   2019.5

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  123. 【新生児・乳児の皮膚病】臨床例 ロリクリン角皮症

    伊藤 靖敏, 武市 拓也, 秋山 真志

    皮膚病診療   Vol. 41 ( 5 ) page: 461 - 464   2019.5

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    <文献概要>症例のポイント ・ロリクリン角皮症は山本らによって提唱された疾患概念で,角層細胞の周辺帯を形成するロリクリンという表皮のタンパク構造をコードするLOR(ロリクリン)遺伝子の変異によって生じる,非常にまれな常染色体優性遺伝性の角化異常症である.本症は,これまでに,世界でも18家系しか報告されていない.・自験例は先天性魚鱗癬様紅皮症との鑑別を要し,全エクソームシークエンスによってLOR遺伝子変異を同定したことでロリクリン角皮症と確定診断した.今回の変異はc.684dupGで,ロリクリン角皮症の原因遺伝子変異として8家系において報告されている.

  124. ケラチン17遺伝子変異を伴ったsteatocystoma multiplexの2例

    丹羽 宏文, 松山 かなこ, 清島 真理子, 後藤 祐介, 守屋 智枝, 村瀬 友也, 武市 拓也, 秋山 真志, 中野 創

    日本皮膚科学会雑誌   Vol. 129 ( 6 ) page: 1359 - 1359   2019.5

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  125. ケラチン17遺伝子変異を伴ったsteatocystoma multiplexの2例

    丹羽 宏文, 松山 かなこ, 清島 真理子, 後藤 祐介, 守屋 智枝, 村瀬 友也, 武市 拓也, 秋山 真志, 中野 創

    日本皮膚科学会雑誌   Vol. 129 ( 6 ) page: 1359 - 1359   2019.5

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  126. 自己炎症性角化症の拡がり

    武市 拓也

    日本皮膚科学会雑誌   Vol. 129 ( 5 ) page: 1041 - 1041   2019.5

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  127. 自己炎症性角化症の拡がり

    武市 拓也

    日本皮膚科学会雑誌   Vol. 129 ( 5 ) page: 1041 - 1041   2019.5

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  128. 遺伝性対側性色素異常症の遺伝型-表現型相関の検討

    小林 智子, 河野 通浩, 菅沼 睦美, 秋田 浩孝, 高井 彩也華, 筒井 清広, 稲坂 優, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 129 ( 5 ) page: 1207 - 1207   2019.5

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  129. 遺伝性対側性色素異常症の遺伝型-表現型相関の検討

    小林 智子, 河野 通浩, 菅沼 睦美, 秋田 浩孝, 高井 彩也華, 筒井 清広, 稲坂 優, 武市 拓也, 室 慶直, 秋山 真志

    日本皮膚科学会雑誌   Vol. 129 ( 5 ) page: 1207 - 1207   2019.5

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  130. 高齢者の右頬部に生じたatypical fibroxanthomaの1例

    石黒 裕梨, 武市 拓也, 秋山 真志, 宮 一朗

    日本皮膚科学会雑誌   Vol. 129 ( 6 ) page: 1360 - 1360   2019.5

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  131. IL36RN遺伝子変異を同定した小児膿疱性乾癬の1例

    西田 麻里奈, 今西 明子, 前川 直輝, 武市 拓也, 河野 通浩, 深井 和吉

    日本皮膚科学会雑誌   Vol. 129 ( 5 ) page: 1200 - 1200   2019.5

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  132. IL36RN遺伝子変異を同定した小児膿疱性乾癬の1例

    西田 麻里奈, 今西 明子, 前川 直輝, 武市 拓也, 河野 通浩, 深井 和吉

    日本皮膚科学会雑誌   Vol. 129 ( 5 ) page: 1200 - 1200   2019.5

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  133. 発作性上室性頻拍と貧血を合併したX連鎖性劣性魚鱗癬の1例

    伊藤 靖敏, 武市 拓也, 井上 優貴, 河野 通浩, 田中 義人, 秋山 真志

    日本臨床皮膚科医会雑誌   Vol. 36 ( 2 ) page: 334 - 334   2019.4

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  134. 多彩な皮疹を呈し抗BP 180抗体陽性であった落葉状天疱瘡の1例

    安達 ルナ, 武市 拓也, 秋山 真志

    臨床皮膚科   Vol. 73 ( 3 ) page: 233 - 238   2019.3

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    <文献概要>74歳,男性.初診1年前から頭部,顔面に紅斑が出現した.近医を受診し,尋常性乾癬の診断で治療されたが症状の拡がりを認めたため,当科を紹介受診した.初診時,鱗屑,水疱,紅斑,びらん等,全身に多彩な皮疹を認めた.皮膚生検にて,表皮内水疱を認め,水疱内に好中球,棘融解細胞がみられた.直接蛍光抗体法にて表皮細胞間のIgGの沈着と,基底膜部のC3の沈着を認めた.血清中自己抗体検査(CLEIA法)にて,抗デスモグレイン1抗体が3,180U/mlと高値であった.抗BP 180抗体も33.8U/mlと陽性であった.以上の所見より落葉状天疱瘡と診断した.ステロイド単独治療では症状の改善に乏しく,免疫グロブリン大量静注療法の併用により病勢は制御できた.多彩な皮疹を呈している症例は診断が難しく繰り返し精査を行い,診断を確定し適切な治療を開始することが重要である.

  135. KDSR遺伝子変異による、血小板減少症を伴った先天性魚鱗癬

    武市 拓也, 小川 靖, 秋山 真志, 戸井 洋一郎, 西村 裕

    角化症研究会記録集   Vol. 33   page: 42 - 45   2019.3

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  136. ATP2A2遺伝子に新規変異を認めたダリエ病の1例

    吉川 剛典, 武市 拓也, 秋山 真志, 須賀 康, 北島 康雄

    日本皮膚科学会雑誌   Vol. 129 ( 3 ) page: 400 - 400   2019.3

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  137. Autoinflammatory keratinization diseaseとしての膿疱性乾癬 病態から治療まで

    武市 拓也

    日本皮膚科学会雑誌   Vol. 129 ( 3 ) page: 387 - 388   2019.3

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  138. ヒドロキシクロロキンの投与により好酸球性肺炎を生じたDLEの1例

    石黒 裕梨, 室 慶直, 村瀬 千晶, 武市 拓也, 河野 通浩, 秋山 真志, 安達 ルナ, 高橋 一臣

    日本皮膚科学会雑誌   Vol. 128 ( 12 ) page: 2685 - 2685   2018.11

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  139. ヒドロキシクロロキンの投与により好酸球性肺炎を生じたDLEの1例

    石黒 裕梨, 室 慶直, 村瀬 千晶, 武市 拓也, 河野 通浩, 秋山 真志, 安達 ルナ, 高橋 一臣

    日本皮膚科学会雑誌   Vol. 128 ( 12 ) page: 2685 - 2685   2018.11

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  140. Conradi-Huenermann-Happle症候群の2例

    武市 拓也, 秋山 真志, 本多 彰, 白井 三由希, 藤山 幹子, 青山 裕美

    日本皮膚科学会雑誌   Vol. 128 ( 12 ) page: 2686 - 2686   2018.11

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  141. Conradi-Huenermann-Happle症候群の2例

    武市 拓也, 秋山 真志, 本多 彰, 白井 三由希, 藤山 幹子, 青山 裕美

    日本皮膚科学会雑誌   Vol. 128 ( 12 ) page: 2686 - 2686   2018.11

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  142. IgG4陽性形質細胞の密な浸潤をみとめたアロポー稽留性肢端皮膚炎の一例

    桃原 真理子, 室 慶直, 武市 拓也, 中黒 匡人, 河野 通浩, 秋山 真志

    日本皮膚免疫アレルギー学会雑誌   Vol. 2 ( 1 ) page: 181 - 181   2018.10

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  143. IgG4陽性形質細胞の密な浸潤をみとめたアロポー稽留性肢端皮膚炎の一例

    桃原 真理子, 室 慶直, 武市 拓也, 中黒 匡人, 河野 通浩, 秋山 真志

    日本皮膚免疫アレルギー学会雑誌   Vol. 2 ( 1 ) page: 181 - 181   2018.10

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  144. 表皮融解性母斑を持つ父と表皮融解性魚鱗癬の子の親子例 次世代での表皮融解性魚鱗癬発症リスク予測

    秋山 真志, 河野 通浩, 武市 拓也, 室 慶直, 須賀 康

    皮膚の科学   Vol. 17 ( 4 ) page: 223 - 223   2018.8

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  145. CARD14の変異/variantを有する毛孔性紅色粃糠疹V型の1例

    秋山 真志, 武市 拓也, 須賀 康, 杉浦 一充

    日本皮膚科学会雑誌   Vol. 128 ( 9 ) page: 1972 - 1972   2018.8

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  146. CARD14の変異/variantを有する毛孔性紅色粃糠疹V型の1例

    秋山 真志, 武市 拓也, 須賀 康, 杉浦 一充

    日本皮膚科学会雑誌   Vol. 128 ( 9 ) page: 1972 - 1972   2018.8

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  147. 急性期離脱に顆粒球吸着療法が有効で完全寛解にセクキヌマブが奏功した膿疱性乾癬の1例

    今西 明子, 白鳥 隆宏, 前川 直輝, 武市 拓也, 河野 通浩, 深井 和吉

    日本皮膚科学会雑誌   Vol. 128 ( 5 ) page: 1197 - 1197   2018.5

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  148. Turner症候群に合併した膿疱性乾癬の1例

    白鳥 隆宏, 今西 明子, 前川 直輝, 武市 拓也, 河野 通浩, 深井 和吉

    日本皮膚科学会雑誌   Vol. 128 ( 5 ) page: 1197 - 1197   2018.5

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  149. 3歳で発症した尋常性乾癬

    村上 めぐみ, 日高 友梨, 水野 絵里香, 白井 三由希, 相山 明輝, 満間 照之, 加藤 元一, 武市 拓也

    日本皮膚科学会雑誌   Vol. 128 ( 5 ) page: 1197 - 1197   2018.5

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  150. 多彩な皮疹を呈し、診断に難渋した落葉状天疱瘡の1例

    安達 ルナ, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 128 ( 4 ) page: 630 - 630   2018.4

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  151. 【最近のトピックス2018】 皮膚疾患の病態 遺伝性角化症における復帰変異

    武市 拓也

    臨床皮膚科   Vol. 72 ( 5 ) page: 51 - 54   2018.4

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    <文献概要>Ichthyosis with confetti(IWC,別名congenital reticular ichthyosiform erythroderma)とは,全身の皮膚にさまざまな程度の過角化,鱗屑を認める疾患である.&quot;confetti&quot;と呼ばれる白色皮膚部分が,加齢とともに全身に増えてくることがこの疾患の大きな特徴である.この白色皮膚部分では,体細胞組換えにより病因遺伝子変異が消失し,いわゆる「自然治癒」が起きていると考えられている.われわれは,この自然治癒を起こす病態を解明するために,IWC家系の組織を用いて,whole-exome sequenceなどの詳細な病態解析を行った.その結果,過去に報告のない,KRT1遺伝子のイントロン1からイントロン5までを含む2209塩基の欠失変異を同定した.本研究により,KRT1遺伝子の広範囲欠失変異により,IWCを引き起こすことが証明された.

    DOI: 10.11477/mf.1412205379

  152. ナローバンドUVBが有効であった変動性紅斑角皮症の1例

    奥田 佳世子, 西田 絵美, 鳥居 寛, 松原 章宏, 佐川 容子, 森田 明理, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 128 ( 4 ) page: 630 - 630   2018.4

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  153. ATP2A2遺伝子に新規変異を認めたダリエ病の1例

    寺田 紗央里, 武市 拓也, 秋山 真志, 安達 明子, 正木 貞男

    日本皮膚科学会雑誌   Vol. 128 ( 4 ) page: 630 - 630   2018.4

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  154. 知っておきたい基礎用語 自己炎症性角化症

    武市 拓也

    日本小児皮膚科学会雑誌   Vol. 37 ( 1 ) page: 50 - 51   2018.3

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  155. NLRP1遺伝子変異によるfamilial keratosis lichenoides chronicaの1家系

    武市 拓也, 秋山 真志, McGrath John A

    角化症研究会記録集   Vol. 32   page: 62 - 64   2018.3

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  156. NLRP1遺伝子変異によるfamilial keratosis lichenoides chronicaの1家系

    武市 拓也, 秋山 真志, McGrath John A.

    角化症研究会記録集   Vol. 32   page: 62 - 64   2018.3

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  157. 悪性黒色腫を生じた魚鱗癬の1例

    辻 由貴子, 大湖 健太郎, 藤岡 愛, 木戸 一成, 中島 喜美子, 中島 英貴, 佐野 栄紀, 武市 拓也, 秋山 真志

    角化症研究会記録集   Vol. 32   page: 57 - 59   2018.3

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  158. 悪性黒色腫を生じた魚鱗癬の1例

    辻 由貴子, 大湖 健太郎, 藤岡 愛, 木戸 一成, 中島 喜美子, 中島 英貴, 佐野 栄紀, 武市 拓也, 秋山 真志

    角化症研究会記録集   Vol. 32   page: 57 - 59   2018.3

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  159. 毛孔性紅色粃糠疹様の臨床像を呈し、新規ABCA12遺伝子変異を認めた先天性魚鱗癬様紅皮症の姉弟例

    小橋 陽加, 石元 達士, 山本 真有子, 中島 喜美子, 佐野 栄紀, 武市 拓也, 秋山 真志, 杉浦 一充

    日本皮膚科学会雑誌   Vol. 128 ( 2 ) page: 261 - 261   2018.2

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  160. ロリクリン角皮症の1例

    伊藤 靖敏, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 128 ( 2 ) page: 264 - 264   2018.2

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  161. 膿疱を伴った乾癬様皮疹を呈した、IgG4関連腎臓病の1例

    大井 梨紗子, 武市 拓也, 後藤 克修, 秋山 真志

    日本皮膚科学会雑誌   Vol. 128 ( 1 ) page: 77 - 77   2018.1

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  162. 皮膚真菌症との鑑別を要した膿疱性乾癬の1例

    小林 三佐子, 水野 清香, 宮川 祐実, 菅原 京子, 桑原 恭子, 武市 拓也, 秋山 真志

    日本皮膚科学会雑誌   Vol. 128 ( 1 ) page: 77 - 77   2018.1

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  163. 指定難病最前線(Volume45) 先天性魚鱗癬の特徴と診療の実際

    武市 拓也, 秋山 真志

    新薬と臨牀   Vol. 66 ( 9 ) page: 1171 - 1175   2017.9

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    Language:Japanese   Publisher:(株)医薬情報研究所  

  164. 【バリア障害】 <臨床例> self-improving collodion ichthyosis

    後藤 克修, 武市 拓也, 菅原 由実菜, 秋山 真志

    皮膚病診療   Vol. 39 ( 8 ) page: 869 - 872   2017.8

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    <症例のポイント>常染色体劣性先天性魚鱗癬の4つ目の疾患概念としてpleomorphic ichthyosisという病型が提唱されている。pleomorphic ichthyosisの表現型の1つにself-improving collodion ichthyosisが含まれる。コロジオン児として発症、生活6ヵ月以降には皮膚症状がほぼ改善したSICIの症例を経験した。SICIの病因遺伝子としてはTGM1、ALOX12B、ALOXE3が今までのところ同定されている。(著者抄録)

  165. 小児に生じた角層下膿疱症の1例

    花村 拓哉, 満間 照之, 牧 優貴, 浅井 理玲, 白井 三由希, 相山 明輝, 武市 拓也

    西日本皮膚科   Vol. 79 ( 3 ) page: 311 - 311   2017.6

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  166. DSG1とSERPINB7にヘテロの遺伝子変異を有する線状掌蹠角化症

    秋山 真志, 武市 拓也, 深浦 遼, 河野 通浩, 杉浦 一充, 須賀 康

    日本皮膚科学会雑誌   Vol. 127 ( 7 ) page: 1562 - 1562   2017.6

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  167. 遺伝性皮膚疾患のトピックス 遺伝性角化症の新しい展開 復帰変異による新規治療法の可能性

    武市 拓也

    日本皮膚科学会雑誌   Vol. 127 ( 5 ) page: 961 - 961   2017.5

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  168. Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation

    T. Taki, T. Takeichi, K. Sugiura, M. Akiyama

    JOURNAL OF INVESTIGATIVE DERMATOLOGY   Vol. 137 ( 5 ) page: S151 - S151   2017.5

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    Language:English   Publishing type:Research paper, summary (international conference)   Publisher:ELSEVIER SCIENCE INC  

    Web of Science

  169. パーキンソン病を合併した葉状魚鱗癬の1例

    安達 ルナ, 武市 拓也, 星野 臣平, 秋山 真志

    日本皮膚科学会雑誌   Vol. 127 ( 5 ) page: 1142 - 1142   2017.5

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  170. 先天性魚鱗癬の病態解明と、抗炎症作用を標的とした治療法の開発

    武市 拓也

    日本皮膚科学会雑誌   Vol. 127 ( 5 ) page: 1222 - 1222   2017.5

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    DOI: 10.14924/dermatol.127.1222

  171. 骨髄異形成症候群患者において、全身に多発性有痛性紅色結節を呈した無色菌糸症の1例

    吉川 剛典, 武市 拓也, 恒川 真央, 河野 通浩, 秋山 真志

    日本皮膚科学会雑誌   Vol. 127 ( 3 ) page: 482 - 482   2017.3

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  172. 全エクソームシークエンス法で診断に至った、self-healing recessive X-linked ichthyosisの1例

    武市 拓也, 棚橋 華奈, 秋山 真志, 高間 寛之, 杉浦 一充

    角化症研究会記録集   Vol. 31   page: 39 - 41   2017.3

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  173. 濾胞性リンパ腫を伴った抗デスモグレイン(Dsg)3、デスモコリン(Dsc)2、3抗体陽性天疱瘡

    吉川 真人, 武市 拓也, 滝 奉樹, 室 慶直, 秋山 真志, 早川 文彦, 石井 文人, 橋本 隆

    日本皮膚科学会雑誌   Vol. 127 ( 3 ) page: 483 - 483   2017.3

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  174. 慢性湿疹を合併したALOXE3遺伝子の新規変異による先天性魚鱗癬様紅皮症の1例

    宮川 祐実, 武市 拓也, 河野 通浩, 秋山 真志, 齋藤 稚代, 森田 明理, 杉浦 一充

    日本皮膚科学会雑誌   Vol. 127 ( 2 ) page: 179 - 180   2017.2

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  175. 【新生児の皮膚病】 (Part4)先天性病変・遺伝性病変(case15) X連鎖性劣性魚鱗癬

    後藤 克修, 武市 拓也, 秋山 真志, 伊藤 有美

    Visual Dermatology   Vol. 16 ( 3 ) page: 264 - 266   2017.2

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  176. アロプリノールにより増悪・汎発化したと思われる稽留性肢端皮膚炎膿疱症の1例

    作田 梨奈, 福田 泰子, 野々垣 香織, 濱野 優, 稲毛 明子, 坂本 淳, 吉池 高志, 武市 拓也, 杉浦 一充

    日本皮膚科学会雑誌   Vol. 127 ( 2 ) page: 212 - 212   2017.2

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▼display all

Presentations 94

  1. 乾癬全身治療のいろいろと薬剤選択~安全性の観点から~

    武市拓也

    Nagoya Dermatology 病診連携セミナー  2024.3.14 

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    Event date: 2024.3

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  2. 難病研究から解き明かす角化症 Invited

    武市拓也

    高知大学医学部皮膚科学講座勉強会  2024.2.21 

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    Event date: 2024.2

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

  3. JAK1に関連した皮膚の遺伝病とTYK2について

    武市拓也

    ソーティクツ1周年記念講演会  2024.1.26 

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    Event date: 2024.1

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  4. 膿疱性乾癬の病態と治療―専門医試験対策と最新研究

    武市拓也

    第3回 皮膚科医教育セミナー  2023.12.13 

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    Event date: 2023.12

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  5. デュピルマブの長期使用によるアトピー性皮膚炎におけるアレルゲン特異的IgG4の増加

    桃原真理子、室慶直、村瀬千晶、滝奉樹、棚橋華奈、山下雄太、小泉遼、深浦遼、武市拓也、秋山真志

    第53回日本皮膚免疫アレルギー学会学術大会 

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    Event date: 2023.12

    Language:Japanese   Presentation type:Oral presentation (general)  

  6. 角層脂質バリアと炎症のメカニズム

    武市拓也

    第53回日本皮膚免疫アレルギー学会学術大会 

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    Event date: 2023.12

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  7. 抗TIF1-a及びγ抗体と抗セントロメア抗体が陽性となった皮膚筋炎の1例

    服部いくみ、小泉 遼、山下雄太、桃原真理子、武市拓也、室 慶直、秋山真志

    第306回日本皮膚科学会東海地方会 

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    Event date: 2023.12

    Language:Japanese   Presentation type:Oral presentation (general)  

  8. アトピー性皮膚炎と遺伝性皮膚疾患の2型炎症を制御する

    武市拓也

    東尾張アレルギー疾患セミナー2023  2023.11.29 

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    Event date: 2023.11

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  9. 尋常性乾癬外用療法の最前線

    武市拓也

    DayTime Webセミナー  2023.11.15 

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    Event date: 2023.11

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  10. 遺伝性角化症・自己炎症性角化症について

    武市拓也

    デザレックス錠7周年WEBセミナー  2023.11.6 

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    Event date: 2023.11

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  11. SREBF1変異を有する先天性魚鱗癬IFAP症候群患者の角質層脂質組成解析.

    水野 佑香, 城島 啓佑, 滝 奉樹, 武市 拓也, 秋山 真志, 木原 章雄.

    第96回日本生化学会大会 

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    Event date: 2023.10 - 2023.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  12. 自己免疫性多内分泌腺症候群3A 型に併発した円形脱毛症をバリシチニブにて治療した 1 例

    後藤文音、山下雄太、湯浅淳、小泉遼、桃原真理子、武市拓也、 室慶直、秋山真志

    第74回日本皮膚科学会中部支部学術大会 

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    Event date: 2023.10

    Language:Japanese   Presentation type:Oral presentation (general)  

  13. 魚鱗癬の抗炎症治療への期待 Invited

    武市拓也

    第74回日本皮膚科学会中部支部学術大会 

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    Event date: 2023.10

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

  14. 早期治療介入が間質性肺炎に著効した抗PM/Scl 抗体陽性皮膚筋炎の1 例

    加藤史織、桃原真理子、山下雄太、小泉遼、星野慶、武市拓也、 室慶直、秋山真志

    第74回日本皮膚科学会中部支部学術大会 

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    Event date: 2023.10

    Language:Japanese   Presentation type:Oral presentation (general)  

  15. 掌蹠膿疱症の治療と鑑別のポイント

    武市拓也

    NAGOYA Psoriasis Seminar  2023.10.26 

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    Event date: 2023.10

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  16. 乾癬治療戦略の実際

    武市拓也

    東三河乾癬治療セミナー  2023.10.19 

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    Event date: 2023.10

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  17. 自己炎症性角化症の最新研究

    武市拓也

    希少難治性皮膚疾患の最新研究  2023.9.23 

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    Event date: 2023.9

    Language:Japanese   Presentation type:Oral presentation (general)  

  18. 顆粒球単球吸着除去療法が有効であったMPOのバリアントを持つ汎発性膿疱性乾癬の1例

    後藤文音、武市拓也、吉川剛典、滝 奉樹、室 慶直、下村 裕、清島真理子、秋山真志

    第305回日本皮膚科学会東海地方会 

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    Event date: 2023.9

    Language:Japanese   Presentation type:Oral presentation (general)  

  19. COVID-19感染を契機に尋常性乾癬が膿疱化した1例

    澤崎百合香、有沢友希、武市拓也、柴田章貴

    第305回日本皮膚科学会東海地方会  2023.9.3 

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    Event date: 2023.9

    Language:Japanese   Presentation type:Oral presentation (general)  

  20. COVID-19にレムデシベルを投与した全身性強皮症の2例

    多湖真帆里、小泉 遼、山下雄太、桃原真理子、武市拓也、室 慶直、秋山真志

    第305回日本皮膚科学会東海地方会 

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    Event date: 2023.9

    Language:Japanese   Presentation type:Oral presentation (general)  

  21. Pneumocystis Pneumonia in a Patient with Severe Generalized Pustular Psoriasis Treated with Biologics

    Haruka Noguchi, Takuya Takeichi, Shunsaku Hayai, Masato Yoshikawa, Yoshinao Muro, Masashi Akiyama

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    Event date: 2023.8

    Language:English   Presentation type:Oral presentation (general)  

  22. 自己炎症性疾患と自己炎症性角化症の遺伝学的アプローチ Invited

    武市拓也

    第38回日本乾癬学会学術大会 

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    Event date: 2023.8

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

  23. 遺伝学的アプローチで解き明かす汎発性膿疱性乾癬 Invited

    武市拓也

    第147回岐阜皮膚科医会  2023.8.6 

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    Event date: 2023.8

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

  24. 角化症の研究から学ぶこと Invited

    武市拓也

    第38回角化症研究会  2023.7.22 

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    Event date: 2023.7

    Language:Japanese   Presentation type:Oral presentation (keynote)  

  25. 悪性黒色腫が多発したKRT10変異によるichthyosis with confettiの1例.

    勅使河原 眞子, 武市 拓也, 棚橋 華奈, 室 慶直, 伊藤 靖敏, 中川 浩一, 荻 朋男, 秋山 真志.

    第38回角化症研究会  2023.7.22 

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    Event date: 2023.7

    Language:Japanese   Presentation type:Oral presentation (general)  

  26. アニフロルマブを投与した全身性エリテマトーデス5例のまとめ

    近藤あきほ、小泉遼、森川いくみ、山下雄太、桃原真理子、武市拓也、室慶直、秋山真志

    第304回日本皮膚科学会東海地方会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Oral presentation (general)  

  27. 横行結腸癌の合併を認めた抗SAE抗体陽性の皮膚筋炎の1例

    豊田紗麗、山下雄太、神谷怜志、桃原真理子、小泉遼、武市拓也、室慶直、秋山真志

    第304回日本皮膚科学会東海地方会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Oral presentation (general)  

  28. 掌蹠膿疱症の診断と治療

    武市拓也

    Nagoya Dermatology 病診連携セミナー  2023.6.22 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  29. 二世代に渡って発症した膿疱性乾癬の症例

    坂井田恵利,磯部里香子,堀田美麗,村上めぐみ,花井有里子,満間照之,武市拓也

    第122回日本皮膚科学会総会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Poster presentation  

  30. Conradi-Huenermann-Happle症候群の1例.

    鈴木 謙仁, 中澤 慎介, 滝 奉樹, 武市 拓也, 船井 尚子, 谷口 章雄, 藤山 俊晴, 伊藤 泰介, 秋山 真志, 本田 哲也.

    第122回日本皮膚科学会総会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Oral presentation (general)  

  31. 魚鱗癬の病態における表皮脂質異常・バリア障害と炎症との相互作用の解明.

    秋山 真志, 武市 拓也, 棚橋 華奈, 滝 奉樹.

    第122回日本皮膚科学会総会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Poster presentation  

  32. Anifrolumab treatment for various subtypes of cutaneous lupus erythematosus in SLE cases.

    Haruka Koizumi, Yoshinao Muro, Satoshi Kamiya, Norika Akashi, Satoko Imai, Yuta Yamashita, Mariko Ogawa-Momohara, Takuya Takeichi, Masashi Akiyama

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    Event date: 2023.6

    Language:English   Presentation type:Oral presentation (general)  

  33. COVID-19 infection- and vaccination-related exacerbation of Darier’s disease.

    Ryo Fukaura, Takuya Takeichi, Aoi Ebata, Yoshinao Muro, Masashi Akiyama

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    Event date: 2023.6

    Language:English   Presentation type:Poster presentation  

  34. 先天性魚鱗癬の研究で解き明かす皮膚バリア

    武市拓也

    第122回日本皮膚科学会総会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  35. 自己炎症性角化症の診断と治療を学ぼう

    武市拓也

    第122回日本皮膚科学会総会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  36. 乳房外パジェット病の発生機序を考察する

    武市拓也

    第122回日本皮膚科学会総会 

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    Event date: 2023.6

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  37. 乾癬類縁疾患を含む角化症の研究について Invited

    武市拓也

    第15回北海道皮膚免疫セミナー  2023.5.24 

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    Event date: 2023.5

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

  38. Ichthyotic skin lesions of ConradieHu¨nermanneHapple syndrome successfully treated with dupilumab. International conference

    R Fukaura, T Takeichi, A Ebata, C Murase, Y Muro, M Akiyama

    International Societies for Investigative Dermatology Meeting 2023 

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    Event date: 2023.5

    Language:English   Presentation type:Poster presentation  

  39. Ceramide analysis in combination with genetic testing is useful in diagnosing self-healing collodion babies. International conference

    Takuya Takeichi, Yusuke Ohno, Kana Tanahashi, Yasutoshi Ito, Ken Shiraishi, Ryo Utsunomiya, Satoshi Yoshida, Kenta Ikeda, Hayato Nomura, Shin Morizane, Koji Sayama, Tomoo Ogi, Yoshinao Muro, Akio Kihara, and Masashi Akiyama.

    International Societies for Investigative Dermatology Meeting 2023  2023.5.12 

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    Event date: 2023.5

    Language:English   Presentation type:Poster presentation  

  40. Long-term risk of cancer development among anti-Th/To antibody-positive systemic sclerosis patients. International conference

    Y Yamashita, Y Muro, H Koizumi, M Ogawa-Momohara, T Takeichi, M Akiyama

    International Societies for Investigative Dermatology Meeting 2023 

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    Event date: 2023.5

    Language:English   Presentation type:Poster presentation  

  41. Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum. International conference

    A Miyazaki, T Takeichi, K Tanahashi, T Taki, Y Taki, Y Muro, M Akiyama

    International Societies for Investigative Dermatology Meeting 2023 

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    Event date: 2023.5

    Language:English   Presentation type:Poster presentation  

  42. Altered replication stress response due to CARD14 mutations induces somatic genetic reversion. International conference

    Miyauchi T, Suzuki S, Takeda M, Peh JT, Aiba M, Natsuga K, Fujita Y, Takeichi T, Sakamoto T, Akiyama M, Shimizu H, Ujiie H, Nomura T.

    The 46th Annual Meeting of the Japanese Society for Investigative Dermatology  2021.12 

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    Event date: 2021.12

    Language:English   Presentation type:Oral presentation (general)  

  43. Frequent driver mutations of FOXA1 in extramammary Paget’s disease International conference

    Takuya Takeichi, Yusuke Okuno, Takaaki Matsumoto, Nobuyuki Tsunoda, Kyogo Suzuki, Kana Tanahashi, Michihiro Kono, Toyone Kikumori, Yoshinao Muro, Masashi Akiyama

    The 46th Annual Meeting of the Japanese Society for Investigative Dermatology  2021.12 

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    Event date: 2021.12

    Language:English   Presentation type:Oral presentation (general)  

  44. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. International conference

    Ito Y, Takeichi T, Ikeda K, Tanahashi K, Yoshikawa T, Murase Y, Muro Y, Kawakami Y, Nakamura Y, Matsuyama K, Muto J, Oiso N, Morizane S, Sugiura K, Suga Y, Seishima M, Kawada A, Ogi T, Akiyama M.

    The 46th Annual Meeting of the Japanese Society for Investigative Dermatology  2021.12 

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    Event date: 2021.12

    Language:English   Presentation type:Poster presentation  

  45. Hereditary mucoepithelial dysplasia/autosomal-dominant IFAP syndrome is a clinical spectrum due to SREBF1 variants. International conference

    Murase C, Takeichi T, Nomura T, Ogi T, Akiyama M.

    The 46th Annual Meeting of the Japanese Society for Investigative Dermatology  2021.12 

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    Event date: 2021.12

    Language:English   Presentation type:Poster presentation  

  46. Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations. International conference

    Takeuchi S, Takeichi T, Koike Y, Takama H, Tanahashi K, Okuno Y, Ishii N, Muro Y, Ogi T, Suga Y, Akiyama M.

    The 46th Annual Meeting of the Japanese Society for Investigative Dermatology  2021.12 

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    Event date: 2021.12

    Language:English   Presentation type:Poster presentation  

  47. Psoriasis-like skin lesions in a patient carrying MEFV variants. International conference

    Yoshikawa T, Takeichi T, Ogi T, Akiyama M.

    The 46th Annual Meeting of the Japanese Society for Investigative Dermatology  2021.12 

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    Event date: 2021.12

    Language:English   Presentation type:Oral presentation (general)  

  48. 成人栄養障害型表皮水疱症患者を対象としたMuse細胞製剤CL2020の国内1/2相試験:52週までの安全性の検討.

    藤田 靖幸, 野原 拓馬, 高島 翔太, 夏賀 健, 足立太起, 吉田 憲司, 新熊 悟, 武市 拓也, 中村 秀樹, 和田 理, 秋山 真志, 石河 晃, 清水 宏.

    第72回日本皮膚科学会中部支部学術大会  2021.11 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  49. 表皮融解性魚鱗癬の1例.

    尾崎 雅史, 葉山 惟大, 長野 伸彦, 土方 みどり, 棚橋 華奈, 武市 拓也, 秋山 真志, 藤田 英樹.

    第72回日本皮膚科学会中部支部学術大会  2021.11 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  50. 遺伝子解析で確定診断に至ったVorner型掌蹠角化症の親子例.

    松本 香奈枝, 金子 栄, 竹内 想, 武市 拓也, 秋山 真志.

    第72回日本皮膚科学会中部支部学術大会  2021.11 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  51. 点状掌蹠角化症の1例.

    池田 賢太, 森実 真, 伊藤 靖敏, 武市 拓也, 秋山 真志.

    第72回日本皮膚科学会中部支部学術大会  2021.11 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  52. KRT1遺伝子変異による表皮融解性母斑の1例.

    長井 拓哉, 菅沼 睦美, 松本 和彦, 武市 拓也, 秋山 真志, 河野 通浩.

    第36回角化症研究会  2021.11.6 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  53. KRT2のmutation hotspotに変異を有する、表在性表皮融解性魚鱗癬の1家系.

    鈴木 由以佳, 武市 拓也, 棚橋 華奈, 室 慶直, 須賀 康, 秋山 真志.

    第36回角化症研究会  2021.11.6 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  54. 14例の長島型掌蹠角化症における、SERPINB7創始者変異のアレル頻度の解析.

    伊藤 靖敏, 武市 拓也, 棚橋 華奈, 吉川 剛典, 村瀬 友哉, 室 慶直, 池田 賢太, 森実 真, 川上 佳夫, 中村 保夫, 清島 真理子, 武藤 潤, 大磯 直毅, 川田 暁, 杉浦 一充, 須賀 康, 荻 朋男, 秋山 真志.

    第36回角化症研究会  2021.11.6 

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    Event date: 2021.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  55. Autoinflammatory keratinization diseases: new concepts and entities Invited International conference

    Takuya Takeichi

    The XIII International Congress of Dermatology  2021.11.10 

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    Event date: 2021.11

    Language:English   Presentation type:Oral presentation (keynote)  

  56. Effect of topical minoxidil on autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations.

    Taki T, Tanahashi K, Takeichi T, Yoshikawa T, Murase Y, Sugiura K, Akiyama M.

    2021.10.2 

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    Event date: 2021.10

    Language:English   Presentation type:Oral presentation (general)  

  57. 分節型白斑に合併したtwenty-nail dystrophy疑いの1例

    鈴木友惟香、小泉 遼、室 慶直、山下雄太、武市拓也、花井有里子、満間照之、秋山真志

    第297回日本皮膚科学会東海地方会  2021.9.26 

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    Event date: 2021.9

    Language:Japanese   Presentation type:Oral presentation (general)  

  58. 経過観察中に水疱性類天疱瘡を発症したMVD遺伝子変異を有する高齢発症の汗孔角化症の2例.

    有沢 友希, 武市 拓也, 伊藤 靖敏, 棚橋 華奈, 室 慶直, 荻 朋男, 秋山 真志.

    第17回加齢皮膚医学研究会  2021.8 

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    Event date: 2021.8

    Language:Japanese   Presentation type:Oral presentation (general)  

  59. 老人性乾皮症におけるSDR9C7の病態解明 Invited

    武市 拓也、棚橋 華奈、秋山 真志

    第17回加齢皮膚医学研究会  2021.8.21 

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    Event date: 2021.8

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

  60. DSG1遺伝子変異による2つの皮膚疾患:その臨床像と形態学.

    竹内 想, 武市 拓也, 小池 雄太, 高間 寛之, 棚橋 華奈, 奥野 友介, 石井 文人, 室 慶直, 荻 朋男, 須賀 康, 秋山 真志.

    第47回皮膚かたち研究学会学術大会  2021.7 

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    Event date: 2021.7

    Language:Japanese   Presentation type:Oral presentation (general)  

  61. 15年間の寛解を経て再燃した抗MDA5抗体陽性皮膚筋炎の一例

    牧原 実紗子、室 慶直、武市 拓也、秋山 真志

    第296回日本皮膚科学会東海地方会  2021.6.20 

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    Event date: 2021.6

    Language:Japanese   Presentation type:Oral presentation (general)  

  62. 遺伝性対側性色素異常症の孤発例.

    鈴木 由以佳, 棚橋 華奈, 武市 拓也, 河野 通浩, 秋山 真志, 小粥 雅明.

    第120回日本皮膚科学会総会  2021.6 

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    Event date: 2021.6

    Language:Japanese   Presentation type:Oral presentation (general)  

  63. 好中球関連皮膚疾患としての汎発性膿疱性乾癬 Invited

    武市 拓也

    第120回日本皮膚科学会総会  2021.6.12 

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    Event date: 2021.6

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

  64. SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation. Invited

    2021.6.11 

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    Event date: 2021.6

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

  65. 遺伝性皮膚疾患研究の最前線

    武市 拓也

    第120回日本皮膚科学会総会  2021.6.11 

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    Event date: 2021.6

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  66. 表皮脂質関連遺伝子の異常による先天性魚鱗癬の病態解明と新規治療法の開発.

    棚橋 華奈, 武市 拓也, 秋山 真志.

    第120回日本皮膚科学会総会  2021.6 

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    Event date: 2021.6

    Language:Japanese   Presentation type:Poster presentation  

  67. SDR9C7 catalyzes the critical dehydrogenation of acylceramides for skin barrier formation. International coauthorship International conference

    Takeichi T, Hirabayashi T, Miyasaka Y, Kawamoto A, Okuno Y, Taguchi S, Tanahashi K, Murase C, Takama H, Tanaka K, Boeglin WE, Calcutt MW, Watanabe D, Kono M, Muro Y, Ishikawa J, Ohno T, Brash AR, Akiyama M.

    The 79th Annual Meeting of the Society for Investigative Dermatology  2021.5 

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    Event date: 2021.5

    Language:English   Presentation type:Oral presentation (general)  

  68. Ceramide reduction in stratum corneum in autosomal recessive congenital ichthyosis by a NIPAL4 mutation. International conference

    Yuya Murase, Takuya Takeichi, Akane Kawamoto, Kana Tanahashi, Yusuke Okuno, Hiroyuki Takama, Eri Shimizu, Junko Ishikawa, Tomoo Ogi, Masashi Akiyama

    The 45th Annual Meeting of The Japanese Society for Investigative Dermatology  2020.12.11 

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    Event date: 2020.12

    Language:English   Presentation type:Oral presentation (general)  

    Venue:Virtual Meeting  

  69. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. International conference

    Yasutoshi Ito, Takuya Takeichi, Shohei Igari, Tatsuhiko Mori, So Takeuchi, Toshiyuki Yamamoto, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

    The 45th Annual Meeting of The Japanese Society for Investigative Dermatology  2020.12.11 

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    Event date: 2020.12

    Language:English   Presentation type:Poster presentation  

  70. Discovering and identifying novel genetic pathomechanisms for autoinflammatory keratinization diseases International conference

    Takuya Takeichi

    The 45th Annual Meeting of The Japanese Society for Investigative Dermatology  2020.12.11 

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    Event date: 2020.12

    Language:English   Presentation type:Poster presentation  

    Venue:Virtual Meeting  

  71. Whole-exome sequencing facilitated causative mutation detection in diffuse palmoplantar keratoderma International conference

    So Takeuchi, Takuya Takeichi, Yasutoshi Ito, Tomoo Ogi, Masashi Akiyama

    The 45th Annual Meeting of The Japanese Society for Investigative Dermatology  2020.12.11 

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    Event date: 2020.12

    Language:English   Presentation type:Poster presentation  

    Venue:Virtual Meeting  

  72. Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant allele heterozygote. International conference

    Chiaki Murase, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama

    The 45th Annual Meeting of The Japanese Society for Investigative Dermatology  2020.12.11 

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    Event date: 2020.12

    Language:English   Presentation type:Poster presentation  

    Venue:Virtual Meeting  

  73. Genotype/phenotype correlations in harlequin ichthyosis with ABCA12 mutations revisited. International conference

    Takenori Yoshikawa, Takuya Takeichi, Hiromasa Wakita, Masahiro Hayakawa, Tomoo Ogi, Masashi Akiyama

    The 45th Annual Meeting of The Japanese Society for Investigative Dermatology  2020.12.11 

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    Event date: 2020.12

    Language:English   Presentation type:Poster presentation  

    Venue:Virtual Meeting  

  74. ウステキヌマブ投与中のクローン病患者に生じた限局性強皮症

    牧原実紗子、武市拓也、桃原真理子、室 慶直、秋山真志

    第294回日本皮膚科学会東海地方会  2020.12.6 

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    Event date: 2020.12

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  75. シェーグレン症候群の経過観察中に抗U1-RNP抗体の陽転化と肺高血圧症の発症を認めた2症例

    玉腰 和、桃原真理子、中野嘉久、吉田雅博、室 慶直、武市拓也、秋山真志

    第294回日本皮膚科学会東海地方会  2020.12.6 

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    Event date: 2020.12

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  76. 皮膚バリア形成に必須であるSDR9C7の機能解明 Invited

    武市拓也

    第13回セラミド研究会  2020.11.27  セラミド研究会

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    Event date: 2020.11

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

    Venue:オンライン開催  

  77. 皮膚の角層細胞周辺帯タンパク質に脂質エンベロープが結合する機構の解明

    武市拓也

    令和2年度AMED PRIME会議「画期的医薬品等の創出をめざす脂質の生理活性と機能の解明」研究開発領域  2020.11.18 

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    Event date: 2020.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:ハイブリッド開催  

  78. 日光曝露により皮疹が再燃したと考えられるCARD14関連毛孔性紅色粃糠疹の1例

    加藤 塁、髙森 建二、須賀 康、武市拓也、秋山真志

    第35回角化症研究会  2020.11.14 

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    Event date: 2020.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  79. NIPAL4変異を有する魚鱗癬患者における皮膚のセラミドと遺伝子発現の変化

    村瀬友哉、武市拓也、棚橋華奈、川本明音、石川准子、奥野友介、高間寛之、清水映里、荻 朋男、秋山真志

    第35回角化症研究会  2020.11.14 

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    Event date: 2020.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:オンライン開催  

  80. 当院で経験したCARD14関連乾癬の3例

    水谷陽子、藤井建人、川村美保、二羽宏文、大西秀典、武市拓也、清島真理子

    第35回角化症研究会  2020.11.14 

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    Event date: 2020.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:オンライン開催  

  81. SDR9C7は皮膚バリア形成過程に重要なアシルセラミドの脱水素反応を触媒する酵素である

    武市拓也、棚橋華奈、村瀬千晶、室 慶直、秋山真志

    第34回表皮細胞研究会  2020.10.31 

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    Event date: 2020.10

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:東京  

  82. 高齢者に発症した皮膚限局Langerhans細胞組織球症の1例

    岩田真衣、武市拓也、室 慶直、秋山真志

    第71回日本皮膚科学会中部支部学術大会  2020.10.10 

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    Event date: 2020.10

    Language:Japanese  

    Venue:Web開催  

  83. GJB2遺伝子のヘテロ接合体変異を同定したVohwinkel症候群の1例

    池田賢太、中川裕貴、内藤聖子、川上佳夫、山崎 修、森実 真、伊藤靖敏、武市拓也、秋山真志

    第71回日本皮膚科学会中部支部学術大会  2020.10.10 

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    Event date: 2020.10

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  84. 水疱性類天疱瘡を合併した汗孔角化症の1例

    有沢友希、武市拓也、棚橋華奈、秋山真志

    第464回日本皮膚科学会京滋地方会田中俊宏教授退任記念地方会  2020.10.3 

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    Event date: 2020.10

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:滋賀  

  85. アダリムマブ投与中に乾癬様皮疹を呈した化膿性汗腺炎の1例

    池谷宗一郎、武市拓也、秋山真志

    第35回日本乾癬学会学術大会  2020.9.12 

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    Event date: 2020.9

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  86. 異なった臨床経過を呈したCARD14関連乾癬の3例

    水谷陽子、藤井建人、川村美保、二羽宏文、大西秀典、武市拓也、清島真理子

    第35回日本乾癬学会学術大会  2020.9.12 

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    Event date: 2020.9

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  87. 二種類の穿孔性皮膚症を発症した高齢者の一例

    岩田真衣、村瀬友哉、武市拓也、棚橋華奈、高間寛之、秋山真志

    第16回加齢皮膚医学研究会  2020.7.18 

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    Event date: 2020.7

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:神戸  

  88. Whole-exome sequencing facilitated causative mutation detection in epidermolysis bullosa

    So Takeuchi, Takuya Takeichi, Yasutoshi Ito, Ken Natsuga, Hiroshi Shimizu, Tomoo Ogi, Masashi Akiyama

    2020.6.4 

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    Event date: 2020.6

    Language:English   Presentation type:Poster presentation  

  89. 長島型掌蹠角化症とアトピー性皮膚炎が併存した1例

    垣生美奈子、武藤 潤、藤井由美子、吉川剛典、武市拓也、秋山真志、佐山浩二

    第119回日本皮膚科学会総会  2020.6.4 

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    Event date: 2020.6

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  90. 新規ATP2C1遺伝子変異を認めた高齢発症Hailey-Hailey病の1例

    水野雄貴、伊藤 満、市橋直樹、武市拓也、清島真理子

    第119回日本皮膚科学会総会  2020.6.4 

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    Event date: 2020.6

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:Web開催  

  91. 表皮脂質関連遺伝子の異常による先天性魚鱗癬の病態解明と新規治療法の開発新規治療法の開発

    棚橋華奈、武市拓也、秋山真志

    第119回日本皮膚科学会総会  2020.6.4 

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    Event date: 2020.6

    Language:Japanese   Presentation type:Poster presentation  

    Venue:Web開催  

  92. 稀少難病研究から解き明かす皮膚バリア機能の新知見 Invited

    武市拓也

    新潟大学皮膚科特別セミナー  2020.4.30  新潟大学皮膚科

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    Event date: 2020.4

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

    Venue:Zoom  

  93. 皮膚バリア形成の新知見について Invited

    武市拓也

    第46回岡山研究皮膚科フォーラム  2020.1.18  岡山研究皮膚科フォーラム/サノフィ株式会社

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    Event date: 2020.1

    Language:Japanese   Presentation type:Oral presentation (invited, special)  

    Venue:岡山  

  94. Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation International conference

    Taki T., Takeichi T., Sugiura K., Akiyama M.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY 

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    Event date: 2017.5

    Language:English   Presentation type:Poster presentation  

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KAKENHI (Grants-in-Aid for Scientific Research) 8

  1. 自己炎症性角化症の未知の炎症メカニズムの解析と治療法の確立

    Grant number:24K02471  2024.4 - 2027.3

    科学研究費助成事業  基盤研究(B)

    武市 拓也

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    Authorship:Principal investigator 

    Grant amount:\18460000 ( Direct Cost: \14200000 、 Indirect Cost:\4260000 )

  2. Elucidation of crosstalk between epidermal lipid abnormality/barrier defects and inflammation in ichthyosis for innovation of novel treatments

    Grant number:21H02941  2021.4 - 2024.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

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    Authorship:Coinvestigator(s) 

  3. 自己炎症性角化症におけるプレシジョンメディシンの開発

    Grant number:20K08648  2020.4 - 2024.3

    日本学術振興会  科学研究費助成事業  基盤研究(C)

    武市 拓也

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    Authorship:Principal investigator 

    Grant amount:\4290000 ( Direct Cost: \3300000 、 Indirect Cost:\990000 )

    研究期間内に以下の3点を行う。
    1. 既存の遺伝子変異がないAiKD患者のDNAを用いて、全エクソームシークエンス法等で、新規病因遺伝子を同定する。
    2. 同定された新規病因遺伝子と、既存の遺伝子変異を持つ患者の表現型を比較して、その相違点を詳細に分析する。集積されたAiKD患者を、その遺伝子型に基づいて分類し、使用されている薬剤について調べ、その薬効について検討する。
    3. AiKDモデルマウス・モデル細胞の樹立と治療薬候補製剤の検討を行う。
    本研究の目的は、自己炎症性角化症 (autoinflammatory keratinization diseases: AiKD) の包括的病態解明を目指し、各々の患者に適したプレシジョンメディシン開発に直結する基礎的データを得ることである。
    研究計画にしたがって、2022年度は新しく病的バリアントが同定された症例と、データベースならびに今までに報告されている論文を比較検討して、発症年齢、皮疹の分布や性状、他臓器合併症の有無などを調べ、新規の遺伝型について包括的に解析した。薬効については、内服薬 (レチノイド剤のエトレチナートなど)、外用薬 (活性型ビタミンD3外用薬、サリチル酸ワセリン、尿素軟膏など) がある。さらに成人 (非妊娠時)、妊婦・授乳婦例と小児例のグループに分類して、それぞれ詳細に分析を行った。
    上記研究の成果として、AiKDsに含まれる汎発性膿疱性乾癬とCARD14-associated papulosquamous eruptionsの症例を発表した。具体的には、セルトリズマブペゴルが効果的であった汎発性膿疱性乾癬の症例、ビメキズマブと顆粒球単球吸着療法が著効した汎発性膿疱性乾癬の症例などを報告した。稀少難治性疾患である汎発性膿疱性乾癬患者の治療報告を行うことで、プレシジョンメディシン開発に繋がるデータを集積していきたい。並行して、AiKDsの一疾患である毛孔性紅色粃糠疹のモデルマウスの作成と解析を進めた。
    現在、3系統のAiKDモデルマウスの樹立・解析を進めているが、実験動物部門の改築やマウスの繁殖等の問題があり、やや遅れている。
    AiKDモデルマウスの薬剤投与実験まで進めて、論文化する計画である。

  4. Revertant mosaicism in autoinflammatory skin diseases

    Grant number:19H03679  2019.4 - 2022.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

    Nomura Toshifumi

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    Pityriasis rubra pilaris type 5 is a refractory autosomal dominant skin disease with few effective treatments. In this study, we for the first time revealed that patients with pityriasis rubra pilaris type 5 have dozens of clinically and histopathologically normalized small skin spots. We then confirmed reversion of the pathogenic mutations only in DNA extracted from epidermis. Whole-genome SNP analysis revealed that homologous recombination is the major mechanism of the mutation reversion. Homologous recombination is utilized when DNA double strand breaks occur. However, mutant CARD14 neither increased DNA double strand breaks nor promoted homologous recombination when DNA double strand breaks occur.

  5. Multidimensional etiologic analysis of autoinflammatory keratinization disease

    Grant number:18K16058  2018.4 - 2023.3

    Grants-in-Aid for Scientific Research  Grant-in-Aid for Early-Career Scientists

    Takeichi Takuya

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    Authorship:Principal investigator  Grant type:Competitive

    Grant amount:\4160000 ( Direct Cost: \3200000 、 Indirect Cost:\960000 )

    To elucidate the comprehensive pathogenesis of autoinflammatory keratinization diseases (AiKD) and to obtain basic data directly related to the development of new treatments for AiKDs. Clinical studies provided expanding the spectrum of AiKD phenotypes and making recommendations for the clinical management of generalized pustular psoriasis with incorporating the latest findings. From the experiments using model mice and model cells, we discovered a novel AiKD caused by gain-of-function mutation in the JAK1 gene, and established a novel AiKD model mouse with a gain-of-function variant in the Nlrp1 gene.

  6. Elucidation of pathogenic mechanisms of ichthyosis due to epidermal lipid abnormalities and development of novel therapeutic agents

    Grant number:18H02832  2018.4 - 2021.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (B)

    AKIYAMA Masashi

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    Authorship:Coinvestigator(s)  Grant type:Competitive

    The results of this research can be summarized in the following three points. (1) Elucidation of etiology for autosomal recessive congenital ichthyosis patients and aggregation of patient information/samples: We have accumulated autosomal recessive congenital ichthyosis patients nationwide and have identified causative gene mutations in a large number of patients. We have collected the patients’ clinical and genetic information together with biological samples. (2) Elucidation of the pathophysiology of autosomal recessive congenital ichthyosis: We have created autosomal recessive congenital ichthyosis model mice in which causative gene mutations are knocked in. We have analyzed the mice to clarify the pathogenic mechanisms of the disease. (3) Development of etiology-targeting treatments for autosomal recessive congenital ichthyosis: Using the above-mentioned model mice, effectiveness of existing agents to autosomal recessive congenital ichthyosis was evaluated.

  7. An establishment of tailor-made treatments for the patients with inherited keratinization disorders

    Grant number:16K19717  2016.4 - 2019.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Young Scientists (B)

    Takeichi Takuya, AKIYAMA Masashi, SUGIURA Kazumitsu

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    Authorship:Principal investigator 

    Grant amount:\3900000 ( Direct Cost: \3000000 、 Indirect Cost:\900000 )

    According to the research plan, we performed molecular biological analysis including whole exome sequencing analysis using samples of 50 familiy of hereditary keratinyzation disorders including congenital ichthyosis and palmoplantar keratoderma. As results, reported pathogenic mutations (e.g. SDR9C7 and PHGDH) have been identified in several families. In addition, we have reported that biallelic mutations in KDSR are implicated in an extended spectrum of disorders of keratinization in which thrombocytopenia is also part of the phenotype. Mutations in KDSR cause defective ceramide biosynthesis, underscoring the importance of ceramide and sphingosine synthesis pathways in skin and platelet biology.

  8. 先天性魚鱗癬の新規病因遺伝子同定と抗サイトカイン製剤による発症制御療法への挑戦

    Grant number:15H06280  2015.8 - 2017.3

    日本学術振興会  科学研究費助成事業 研究活動スタート支援  研究活動スタート支援

    武市 拓也

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    本研究の目的は、先天性魚鱗癬の包括的病態解明を目指し、新規治療法開発に直結する基礎的データを得ることである。平成27年度の計画は、先天性魚鱗癬の患者と家族のDNAと皮膚組織を用いる研究であった。研究計画に基づいて、既存の病因遺伝子変異のない先天性魚鱗癬の25症例と、非罹患血縁者の中で、表現型がはっきりしている症例、劣性遺伝が推測しやすい家系、血縁者のDNAを多く収集できた家系を10家系選び、患者の末梢血より抽出したgDNAを用いて、全エクソームシークエンス法を行った。全エクソームシークエンス解析には、Illumina社のHiseq2000とHiseq2500を使用した。その結果、10症例の中で、サンガーシークエンス法では特定できなかった、既存の原因遺伝子の変異を持つ家系が数家系あった。以前に、先天性表皮水疱症においても、従来のサンガーシークエンス法より、全エクソームシークエンス法を用いた方が、遺伝子変異の同定率が上昇することを報告している。今回得られたデータは、先天性魚鱗癬においても、全エクソームシークエンス法の使用で、遺伝子変異の同定率が上がることが示唆された。
    既存の遺伝子変異を持つ家系の中からABHD5遺伝子変異の症例を報告した。ABHD5遺伝子は、魚鱗癬症候群の一つに分類される、Dorfman-Chanarin症候群(DCS)の原因遺伝子として知られている。DCSは、中性脂肪代謝異常症であり、トリアシルグリセロールがさまざまな細胞の細胞質内に蓄積し、脂肪滴を形成する。魚鱗癬様紅皮症の他に、肝障害を始めとした他臓器症状を合併することが特徴である。本症例でも、過去に一過性の肝機能異常を呈したエピソードがあったが、無治療で正常化したため、その後の検査は施行されていなかった。本症例のように、他臓器障害が非常にmildで魚鱗癬の症状のみを呈する患者がいることが明らかになった。

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Teaching Experience (On-campus) 9

  1. Dermatology

    2023

  2. 皮膚科学

    2022

  3. チュートリアルまとめセッション

    2022

  4. チュートリアルまとめセッション

    2021

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    発熱と検尿異常

  5. 皮膚科学

    2021

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    1) 構造と機能、発疹学
    2) 遺伝性皮膚疾患への挑戦

  6. 生涯健康と医学

    2021

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    遺伝する皮膚病-角化症を中心に-

  7. チュートリアル

    2020

  8. 医学部学生講義 皮膚科学

    2020

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    (7)「1、構造と機能、発疹学  2、遺伝性皮膚疾患への挑戦」

  9. チュートリアルまとめセッション

    2020

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    SLEとTEN

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Media Coverage 1

  1. 紙上診察室 Newspaper, magazine

    中日新聞社  汗孔角化症  2023.6

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    Author:Myself 

Academic Activities 5

  1. 第5回日本研究皮膚科学会あおば塾

    Role(s):Planning, management, etc.

    日本研究皮膚科学会若手セミナー委員  2022.8

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  2. 第12回日本研究皮膚科学会きさらぎ塾

    Role(s):Planning, management, etc., Panel moderator, session chair, etc.

    日本研究皮膚科学会若手セミナー委員  2022.2

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  3. 第4回日本研究皮膚科学会あおば塾

    Role(s):Planning, management, etc., Panel moderator, session chair, etc.

    日本研究皮膚科学会若手セミナー委員  2021.11

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  4. The 45th Annual Meeting of The Japanese Society for Investigative Dermatology International contribution

    Role(s):Planning, management, etc.

    2020.12

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  5. Asian Kisaragi Juku International contribution

    Role(s):Planning, management, etc., Panel moderator, session chair, etc., Review, evaluation

    2020.12

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