营养不良型大疱性表皮松解症一家系

doi:10.35541/cjd.20230697

Chinese Journal of Dermatology ›› 2026, e20230697.doi: 10.35541/cjd.20230697

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Dominant dystrophic epidermolysis bullosa in a family

Hu Jie, Liu Xiaonan, Yao Tianyu, He Danyue, Tang Lili, Fan Xing

Department of Dermatology and Venereology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China

Received:2023-11-29 Revised:2024-10-26 Online:2026-03-11 Published:2026-03-17
Contact: Fan Xing E-mail:ms_fanxing@126.com
Supported by:
2020 Anhui Medical University Clinical Science Fund（2020xkj162）

Abstract

Hu Jie, Liu Xiaonan, Yao Tianyu, He Danyue, Tang Lili, Fan Xing. Dominant dystrophic epidermolysis bullosa in a family[J]. Chinese Journal of Dermatology,2026,e20230697. doi:10.35541/cjd.20230697

References ［11］

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［2］	Wertheim⁃Tysarowska K, Sobczyńska⁃Tomaszewska A, Kowalewski C, et al. The COL7A1 mutation database［J］. Hum Mutat, 2012,33（2）:327⁃331. DOI: 10.1002/humu.21651.
［3］	祝玉, 吴玮, 谢锦莹, 等. 显性营养不良型大疱性表皮松解症COL7A1基因突变分析［J］. 中国麻风皮肤病杂志, 2022,38（9）:607⁃613. DOI: 10.12144/zgmfskin202209607.
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［5］	Yadav RS, Jayswal A, Shrestha S, et al. Dystrophic epidermolysis bullosa［J］. JNMA J Nepal Med Assoc, 2018,56（213）:879⁃882. DOI: 10.31729/jnma.3791.
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［8］	Raj A, Rifkin SA, Andersen E, et al. Variability in gene expression underlies incomplete penetrance［J］. Nature, 2010,463（7283）:913⁃918. DOI: 10.1038/nature08781.
［9］	Marinkovich MP, Paller AS, Guide SV, et al. Long⁃term safety and tolerability of beremagene geperpavec⁃svdt （B⁃VEC） in an open⁃label extension study of patients with dystrophic epidermolysis bullosa［J］. Am J Clin Dermatol, 2025,26（4）:623⁃635. doi: 10.1007/s40257⁃025⁃00942⁃y
［10］	Tovar Vetencourt A, Sayed⁃Ahmed I, Gomez J, et al. Ocular gene therapy in a patient with dystrophic epidermolysis bullosa［J］. N Engl J Med, 2024,390（6）:530⁃535. DOI: 10.1056/NEJMoa230 1244.
［11］	Has C, South A, Uitto J. Molecular therapeutics in development for epidermolysis bullosa: update 2020［J］. Mol Diagn Ther, 2020,24（3）:299⁃309. DOI: 10.1007/s40291⁃020⁃00466⁃7.

Dominant dystrophic epidermolysis bullosa in a family

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