Faculty Profiles - TAKEICHI Takuya

Papers - TAKEICHI Takuya

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

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

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

[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

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

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.

DOI： 10.11406/rinketsu.60.1641

PubMed

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

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

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.

DOI： 10.1194/jlr.P087536

Web of Science

Scopus

PubMed

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

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

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

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

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

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

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

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

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

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.

DOI： 10.1016/j.jdermsci.2018.08.008

Web of Science

Scopus

PubMed

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

DOI： 10.18999/nagjms.80.2.267

Web of Science

Scopus

PubMed

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

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

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

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

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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Papers - TAKEICHI Takuya