家族性慢性良性天疱疮研究进展

doi:10.35541/cjd.20240182

中华皮肤科杂志 ›› 2025, e20240182.doi: 10.35541/cjd.20240182

家族性慢性良性天疱疮研究进展

袁勇勇潘萌

上海交通大学医学院附属瑞金医院皮肤科，上海 200025

收稿日期:2024-04-08 修回日期:2024-09-14 发布日期:2025-02-08
通讯作者: 潘萌 E-mail:pm10633@rjh.com.cn
基金资助:
国家自然科学基金（82430100）

Advances in Hailey-Hailey Disease

Yuan Yongyong, Pan Meng

Department of Dermatology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2024-04-08 Revised:2024-09-14 Published:2025-02-08
Contact: Pan Meng E-mail:pm10633@rjh.com.cn
Supported by:
National Natural Science Foundation of China（82430100）

摘要/Abstract

摘要： 【摘要】目前认为家族性慢性良性天疱疮系常染色体显性遗传病，其特征为表皮棘层松解，临床表现为间擦部位红斑、水疱、糜烂、渗液及频发继发感染，目前尚缺乏有效治疗手段。本文综述近年来家族性慢性良性天疱疮发病机制和治疗相关研究进展，为后续研究和临床实践提供参考和借鉴。

关键词: 天疱疮, 良性家族性, 基因, 显性, 治疗学, ATP2C1基因突变

Abstract: 【Abstract】 Familial benign chronic pemphigus （also known as Hailey-Hailey disease） is an autosomal dominant genetic disease characterized by epidermal acantholysis. Clinically, it manifests as erythema, blisters, erosions, exudation, and frequent secondary infections in intertriginous areas. To date, there is a dearth of effective treatment options available for this condition. This review summarizes recent advances in the research regarding the pathogenesis and treatment of Hailey-Hailey disease, aiming to serve as a valuable reference for future studies and clinical practice.

Key words: Pemphigus, benign familial, Genes, dominant, Therapeutics, Mutations in ATP2C1

袁勇勇潘萌. 家族性慢性良性天疱疮研究进展[J]. 中华皮肤科杂志, 2025,e20240182. doi:10.35541/cjd.20240182

Yuan Yongyong, Pan Meng. Advances in Hailey-Hailey Disease[J]. Chinese Journal of Dermatology,2025,e20240182. doi:10.35541/cjd.20240182

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家族性慢性良性天疱疮研究进展

Advances in Hailey-Hailey Disease

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