Updated on 2021/05/20

写真a

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

Degree 1

  1. 博士(医学) ( 2010.9   名古屋大学 ) 

Research Interests 5

  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

Research Areas 3

  1. Life Science / Genetics

  2. Life Science / Dermatology

  3. Life Science / Dermatology

Professional Memberships 1

  1. 加齢皮膚医学研究会

Committee Memberships 2

  1. 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

  2. 日本研究皮膚科学会   評議員  

    2014   

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    Committee type:Academic society

Awards 9

  1. 第19回ガルデルマ・マルホ研究賞

    2019  

    武市 拓也

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

    2019  

    Takuya Takeichi

  3. 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

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

    2018  

    Takuya Takeichi

  5. 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

  6. 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

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

    2017  

    Takuya Takeichi

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

    2017  

    Takuya Takeichi

  9. 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

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Papers 113

  1. Autoantibody profiles in patients' sera associated with distribution patterns of dermatomyositis skin symptoms.

    Ogawa-Momohara M, Kinoshita F, Muro Y, Kobayashi Y, Takeichi T, Akiyama M

    Journal of the American Academy of Dermatology   Vol. 84 ( 6 ) page: 1720 - 1722   2021.6

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    Publisher:Journal of the American Academy of Dermatology  

    DOI: 10.1016/j.jaad.2020.07.131

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  2. Cutaneous malignant melanoma in an elderly patient with intermediate junctional epidermolysis bullosa

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

    JOURNAL OF DERMATOLOGY     2021.5

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15951

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

    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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    Publisher:Journal of the European Academy of Dermatology and Venereology  

    DOI: 10.1111/jdv.17098

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  4. Extensive multiple organ involvement in VEXAS syndrome.

    Takahashi N, Takeichi T, Nishida T, Takahashi Y, Sato J, Yamamura M, Ogi T, Akiyama M

    Arthritis & rheumatology (Hoboken, N.J.)     2021.4

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  5. Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing.

    Takeuchi S, Takeichi T, Ito Y, Tanahashi K, Muro Y, Ogi T, Akiyama M

    European journal of dermatology : EJD     2021.4

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  6. Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant heterozygote

    Murase Chiaki, Takeichi Takuya, Sugiura Kazumitsu, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 48 ( 4 ) page: E186 - E187   2021.4

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15795

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  7. Darier's disease with epilepsy in an elderly patient after surgery for aortic dissection

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

    JOURNAL OF DERMATOLOGY   Vol. 48 ( 4 ) page: E169 - E170   2021.4

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15777

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  8. Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation

    Murase Y., Takeichi T., Tanahashi K., Marumo Y., Suzuki Y., Nakamura S., Akiyama M.

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY   Vol. 35 ( 4 ) page: E257 - E259   2021.4

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    Publisher:Journal of the European Academy of Dermatology and Venereology  

    DOI: 10.1111/jdv.16990

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

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

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

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    Publisher:Journal of Cutaneous Immunology and Allergy  

    DOI: 10.1002/cia2.12153

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

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

    Journal of dermatological science     2021.3

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    Publisher:Journal of Dermatological Science  

    DOI: 10.1016/j.jdermsci.2021.03.003

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

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

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY     2021.3

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    Publisher:Journal of the European Academy of Dermatology and Venereology  

    DOI: 10.1111/jdv.17201

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  12. Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid

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

    ACTA DERMATO-VENEREOLOGICA   Vol. 101 ( 3 ) page: adv00423   2021.3

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    Publisher:Acta Dermato-Venereologica  

    DOI: 10.2340/00015555-3764

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  13. Morphea in a Crohn's disease patient undergoing ustekinumab treatment.

    Makihara-Inukai M, Takeichi T, Ogawa-Momohara M, Muro Y, Akiyama M

    European journal of dermatology : EJD   Vol. 31 ( 1 ) page: 96 - 97   2021.2

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    Publisher:European journal of dermatology : EJD  

    DOI: 10.1684/ejd.2020.3956

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  14. 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.

    DOI: 10.1111/jdv.16799

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  15. Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases

    Takeichi Takuya, Akiyama Masashi

    JOURNAL OF DERMATOLOGY   Vol. 48 ( 1 ) page: E24 - E25   2021.1

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15612

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  16. Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab

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

    JOURNAL OF DERMATOLOGY   Vol. 48 ( 1 ) page: E43 - E44   2021.1

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15645

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

    Yoshikawa M, Muro Y, Ogawa-Momohara M, Ito S, Takeichi T, Akiyama M

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

  18. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants.

    Murase C, Takeichi T, Nomura T, Ogi T, Akiyama M

    The Journal of investigative dermatology     2020.11

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    Publisher:Journal of Investigative Dermatology  

    DOI: 10.1016/j.jid.2020.09.035

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  19. A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma

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

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 100 ( 2 ) page: 148 - 151   2020.11

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    Publisher:Journal of Dermatological Science  

    DOI: 10.1016/j.jdermsci.2020.05.001

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

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

    Clinical and experimental rheumatology     2020.10

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  21. Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis

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

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 10 ) page: E362 - E364   2020.10

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15525

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

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

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

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    Publisher:Journal of Cutaneous Immunology and Allergy  

    DOI: 10.1002/cia2.12132

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  23. Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1

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

    JOURNAL OF DERMATOLOGICAL SCIENCE   Vol. 100 ( 1 ) page: 82 - 84   2020.10

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    Publisher:Journal of Dermatological Science  

    DOI: 10.1016/j.jdermsci.2020.08.008

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

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

    JOURNAL OF DERMATOLOGY   Vol. 47 ( 10 ) page: E352 - E354   2020.10

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    Publisher:Journal of Dermatology  

    DOI: 10.1111/1346-8138.15513

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  25. 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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    Publishing type:Research paper (scientific journal)  

    DOI: 10.1001/jamadermatol.2020.2195

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  26. Exploration of biomarkers to predict clinical improvement of atopic dermatitis in patients treated with dupilumab A study protocol

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

    MEDICINE   Vol. 99 ( 38 ) page: e22043   2020.9

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  27. 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

  28. Late-onset Langerhans cell histiocytosis without extracutaneous involvement

    Iwata Mai, Takeichi Takuya, Muro Yoshinao, Akiyama Masashi

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

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    Publisher:Journal of Cutaneous Immunology and Allergy  

    DOI: 10.1002/cia2.12122

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  29. 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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    DOI: 10.1684/ejd.2020.3812

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  30. Recurrent KRT10 Variant in Ichthyosis with Confetti. Reviewed 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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    Publishing type:Research paper (scientific journal)  

    DOI: 10.2340/00015555-3570

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  31. 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.

    DOI: 10.1016/j.jdermsci.2020.03.005

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  32. 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.

    DOI: 10.3389/fimmu.2020.00641

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  33. 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.

    DOI: 10.3390/cancers12040820

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  34. 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.

    DOI: 10.1007/s40257-019-00492-0

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  35. 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

  36. 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

  37. 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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    Publishing type:Research paper (scientific journal)  

    DOI: 10.1684/ejd.2019.3681

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  38. 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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  39. 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

  40. 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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  41. 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

  42. 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

  43. 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

  44. 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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  45. 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

  46. A case of systemic lupus erythematosus/systemic sclerosis overlap syndrome successfully treated with belimumab

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

    EUROPEAN JOURNAL OF DERMATOLOGY   Vol. 30 ( 5 ) page: 615 - 617   2020

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  47. 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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  48. 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

  49. 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

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

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

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

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  51. 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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  52. 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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  53. Acrodermatitis continua of Hallopeau with dense infiltration of IgG4-positive cells in the lesional dermis. Reviewed

    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

  54. 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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  55. 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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  56. 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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  57. 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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  58. The lipoxygenase-hepoxilin pathway is activated in cutaneous plaque lesions of psoriasis

    Takeichi Takuya, Kinoshita Fumie, Tanaka Hirotaka, Fujita Setsuko, Kobayashi Yumiko, Nakatochi Masahiro, Sugiura Kazumitsu, Akiyama Masashi

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

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

    Kobashi H.

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

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    DOI: 10.2336/nishinihonhifu.81.382

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  60. [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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  61. 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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  62. 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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  63. 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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    DOI: 10.1111/jdv.15004

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  64. 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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  65. 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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  66. 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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  67. 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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  68. Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1. Reviewed

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

    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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  71. 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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  72. 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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  73. 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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  74. 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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  75. 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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  76. 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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  77. 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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  78. 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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  79. 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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  80. 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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  81. 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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  82. 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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  83. 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

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    DOI: 10.1684/ejd.2018.3259

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  84. 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

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    DOI: 10.1684/ejd.2018.3313

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  85. 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

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    DOI: 10.1684/ejd.2018.3415

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  86. 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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  87. 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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  88. 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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  89. 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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  90. 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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  91. 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.

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  92. 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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  93. 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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  94. 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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  95. 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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  96. 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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  97. 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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  98. 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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  99. 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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  100. 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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  101. 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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  102. 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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  103. 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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  104. 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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  105. 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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  106. 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.

  107. 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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  108. 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

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    DOI: 10.1684/ejd.2017.3049

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  109. 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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  110. 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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  111. 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

  112. 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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  113. 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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MISC 64

  1. 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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  2. 【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)

  3. 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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  4. 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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  5. 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)

  6. 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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  7. 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)

  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 【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.

  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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.

  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 【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

  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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    Language:Japanese   Publisher:角化症研究会事務局  

  47. 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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  48. 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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  49. 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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  50. 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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  51. 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  

  52. 【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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    Language:Japanese   Publisher:(株)協和企画  

    <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)

  53. 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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  54. 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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  55. 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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  56. 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

  57. 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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  58. 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

  59. 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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  60. 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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  61. 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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  62. 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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  63. 【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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  64. 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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Presentations 27

  1. 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  

  2. 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  

  3. 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  

  4. 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  

  5. 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  

  6. 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  

  7. 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  

  8. 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  

  9. 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  

  10. 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  

  11. 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)  

  12. 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  

  13. 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  

  14. 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  

  15. 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  

  16. 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  

  17. 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  

  18. 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  

  19. 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  

  20. 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  

  21. 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  

  22. 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  

  23. 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  

  24. 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  

  25. 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  

  26. 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  

  27. 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) 14

  1. 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 - 2023.3

    日本学術振興会  科学研究費助成事業 基盤研究(C)  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。

  2. 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)  Grant-in-Aid for Scientific Research (B)

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    Authorship:Coinvestigator(s) 

  3. 自己炎症性角化症の多角的な病因解析

    Grant number:18K16058  2018.4 - 2021.3

    日本学術振興会  科学研究費助成事業 若手研究  若手研究

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

    Grant amount:\4160000 ( Direct Cost: \3200000 、 Indirect Cost:\960000 )

    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、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。2019年度の目標は、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、その相違点を包括的に分析し、集積されたAiKD患者を、遺伝子型に基づいて分類し、使用されている薬剤を調べ、薬効について検討することと、AiKDモデルマウスならびにモデル細胞を用いて、in vivoでの各種薬剤の効果と副作用の発現を検証することであった。
    研究計画に基づいて、新しく変異が同定された症例と、これらの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、新規の遺伝子型について包括的に分析した。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) があり、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した。
    上記研究の成果として、NCSTN遺伝子の新規遺伝子変異を有する、慢性腎不全を合併した化膿性汗腺炎の家系等を報告することができた。また、自己炎症性に着目した、汎発性膿疱性乾癬についての最近の知見を盛り込んだ、クリニカルマネージメントについての提言を行った。
    現在、モデルマウスの作製を進めているが、マウスの繁殖困難等の問題があり、やや遅れている。
    今後は、複数の自己炎症性角化症モデルマウスを用いて、病態の解析と、in vivoでの各種薬剤の効果と副作用の発現を検証する計画である。

  4. 表皮脂質の異常による魚鱗癬発症メカニズムの解明と新規治療薬開発への展開

    Grant number:18H02832  2018.4 - 2021.3

    日本学術振興会  科学研究費助成事業 基盤研究(B)  基盤研究(B)

    秋山 真志

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    Authorship:Coinvestigator(s)  Grant type:Competitive

    本研究では、大きく分けて、「常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト」、「常染色体劣性先天性魚鱗癬の病態解明プロジェクト」、「常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト」の3つのプロジェクトを実施して来ている。本年度においては、「常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト」と「常染色体劣性先天性魚鱗癬の病態解明プロジェクト」とを、主に併行して進めたが、「常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト」についても、一部着手した。具体的な本年度の研究実績の概要は以下である。
    1)常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト:全国的な常染色体劣性先天性魚鱗癬患者の集積と脂質関連病因遺伝子の同定を行い、多数の常染色体劣性先天性魚鱗癬患者臨床情報と病因の遺伝情報(主に脂質関連遺伝子の病因遺伝子変異)を患者レジストリへ登録、データバンクを作成した。集積した常染色体劣性先天性魚鱗癬患者からのDNA、RNA、皮膚組織等の生体試料のバイオバンクも作成した。
    2)常染色体劣性先天性魚鱗癬の病態解明プロジェクト:実際の常染色体劣性先天性魚鱗癬患者の病因遺伝子変異をCRISPR-Cas9によるゲノム編集技術を用いてノックインした真の疾患モデル細胞、モデルマウスを作成した。
    3)常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト:上記の真の常染色体劣性先天性魚鱗癬モデル細胞を用いて、化合物ライブラリーをスクリーニングした。さらに、既存薬ライブラリーについてもドラッグ・リポジショニングを目指してスクリーニングを行った。
    平成30年10月、ヒト病因遺伝子変異を有する真の疾患モデル細胞を用いた化合物ライブラリーのスクリーニングを施行する過程で、治療効果についての有効なスクリーニングを行う為には、当初予定していた化合物の種類、濃度では不十分、不適切なことが判明した。この問題を解決するため、有効なスクリーニングに最適な化合物の種類と濃度について改めて調査、検討する必要が生じた。それらの事前調査に想定以上の時間を要したため、研究の進捗にやや遅れを生じている。
    今後も引き続き、「常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト」、「常染色体劣性先天性魚鱗癬の病態解明プロジェクト」、「常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト」の3つのプロジェクトを並行して進める。具体的な研究の推進方策は以下である。
    1)常染色体劣性先天性魚鱗癬患者を対象とする病因解明とデータバンク、バイオバンク作成プロジェクト:引き続き、全国的な常染色体劣性先天性魚鱗癬患者の集積と脂質関連病因遺伝子の同定を行い、多数の常染色体劣性先天性魚鱗癬患者臨床情報と病因の遺伝情報(主に脂質関連遺伝子の病因遺伝子変異)を患者レジストリへ登録、データバンクを作る。初年度に引き続き、集積した常染色体劣性先天性魚鱗癬患者からのDNA、RNA、皮膚組織等の生体試料のバイオバンクを作成する。
    2)常染色体劣性先天性魚鱗癬の病態解明プロジェクト:引き続き、実際の常染色体劣性先天性魚鱗癬患者の病因遺伝子変異をCRISPR-Cas9によるゲノム編集技術を用いてノックインした真の疾患モデルマウスを用いて、皮膚の角化障害の評価と表皮脂質分析を施行する。
    3)常染色体劣性先天性魚鱗癬の新規病因治療薬開発プロジェクト:これまでに作成した真の常染色体劣性先天性魚鱗癬モデル細胞を用いて、引き続き、化合物ライブラリーをスクリーニングし、魚鱗癬治療薬候補の選定を行う。さらに、既存薬ライブラリーについてもドラッグ・リポジショニングを目指してスクリーニングを進める。

  5. 平成30年度持田記念医学薬学振興財団研究助成

    2018

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  6. 北村記念血液疾患研究基金

    2018

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  7. 第46回かなえ医薬振興財団助成金

    2017

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  8. 平成29年度研究奨励金

    2017

    上原記念生命科学財団 

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  9. 平成29年度助成金

    2017

    リディアオリリー記念ピアス皮膚科学振興財団 

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  10. 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)  Grant-in-Aid for Young Scientists (B)

    Takeichi Takuya

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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.

  11. 基礎医学研究費(資生堂寄付)

    2016

    日本皮膚科学会 

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  12. アジアパシフィック基金

    2016

    ラロッシュポゼ 

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

  13. 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。

  14. 第40回医学奨励助成金

    2015

    難病医学研究財団 

    武市 拓也

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    Authorship:Principal investigator  Grant type:Competitive

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Teaching Experience (On-campus) 3

  1. チュートリアル

    2020

  2. 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」

  3. チュートリアルまとめセッション

    2020

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    SLEとTEN

 

Academic Activities 2

  1. The 45th Annual Meeting of The Japanese Society for Investigative Dermatology International contribution

    Role(s):Planning, management, etc.

    2020.12

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    Type:Academic society, research group, etc. 

  2. Asian Kisaragi Juku International contribution

    Role(s):Planning, management, etc., Panel moderator, session chair, etc., Review, evaluation

    2020.12

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    Type:Academic society, research group, etc.