A case of epidermolysis bullosa pruriginosa with a COL7A1 gene mutation successfully treated with upadacitinib.

作者信息

Guo Lan, Wang Si-Fan, Wang Hai-Meng, Zeng Yue-Ping, Jin Hong-Zhong

机构信息

Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.

出版信息

J Dermatol. 2025 Jan;52(1):e5-e7. doi: 10.1111/1346-8138.17239. Epub 2024 Apr 25.

DOI:10.1111/1346-8138.17239

PMID:38660959

Abstract

摘要

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A case of epidermolysis bullosa pruriginosa with a COL7A1 gene mutation successfully treated with upadacitinib.

J Dermatol. 2025 Jan;52(1):e5-e7. doi: 10.1111/1346-8138.17239. Epub 2024 Apr 25.

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.痒疹性大疱性表皮松解症潜在的显性和隐性COL7A1突变的等位基因异质性。

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A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.COL7A1基因中的一种新型错义突变是大疱性类天疱疮性痒疹的基础。

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An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.COL7A1基因中一种不完全显性的新突变在一个大家族中导致了瘙痒性大疱性表皮松解症和显性营养不良性大疱性表皮松解症表型。

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A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.一个新的 COL7A1 基因突变导致瘙痒性大疱性表皮松解症。

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A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.一个患有显性营养不良性大疱性表皮松解症伴瘙痒的中国家系中VII型胶原蛋白基因的新型剪接位点突变。

Acta Derm Venereol. 2002;82(3):187-91. doi: 10.1080/00015550260132479.

引用本文的文献

A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib.一名营养不良性大疱性表皮松解症患者的新型COL7A1突变。乌帕替尼治疗成功。

Clin Cosmet Investig Dermatol. 2025 Jan 21;18:183-190. doi: 10.2147/CCID.S499144. eCollection 2025.

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