Item type |
itemtype_ver1(1) |
公開日 |
2024-01-23 |
タイトル |
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タイトル |
Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes |
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言語 |
en |
著者 |
Takeichi, Takuya
Hamada, Takahiro
Yamamoto, Mayuko
Ito, Yasutoshi
Kawaguchi, Aya
Kobashi, Haruka
Yoshikawa, Takenori
Koga, Hiroshi
Ishii, Norito
Nakama, Takekuni
Muro, Yoshinao
Ogi, Tomoo
Akiyama, Masashi
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アクセス権 |
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アクセス権 |
embargoed access |
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アクセス権URI |
http://purl.org/coar/access_right/c_f1cf |
権利 |
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言語 |
en |
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権利情報 |
"This is the peer reviewed version of the following article: [Takeichi T, Hamada T, Yamamoto M, Ito Y, Kawaguchi A, Kobashi H, et al. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. J Dermatol. 2024; 51: 101–105. https://doi.org/10.1111/1346-8138.16967], which has been published in final form at [https://doi.org/10.1111/1346-8138.16967]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited." |
内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic variants in ABCA12 are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an ABCA12 variant but did not show a “congenital” phenotype. They were considered to have pityriasis rubra pilaris (PRP). Here, we present a further patient with ABCA12 variants whose phenotype was not congenital ichthyosis, in an independent family. Notably, these three patients had geographic unaffected areas. Such areas are not usually found in patients with ARCI who have ABCA12 variants, suggesting mild phenotypes for these patients. Interestingly, the histological features of the ichthyotic lesions in these patients resembled those of PRP. All three patients had homozygous pathogenic missense variants in ABCA12. Our findings expand the phenotypic spectrum of patients with ABCA12 variants. |
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言語 |
en |
出版者 |
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出版者 |
Wiley |
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言語 |
en |
言語 |
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言語 |
eng |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
関連情報 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1111/1346-8138.16967 |
収録物識別子 |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0385-2407 |
書誌情報 |
en : The Journal of Dermatology
巻 51,
号 1,
p. 101-105,
発行日 2024-01
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ファイル公開日 |
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日付 |
2025-01-01 |
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日付タイプ |
Available |