《生命科学》 2024, 36(2): 212-225

大疱性表皮松解症的遗传学和治疗方法研究进展

刘子源^1,2 , 申　云^1,2 , 董铭菲^1,2 , 张鑫毅^1,2 , 沈小芳^1,2,* , 翟立红^1,2,*

¹襄阳市中心医院，湖北文理学院附属医院，襄阳 441021 ²湖北文理学院基础医学院，襄阳 441053

摘　要：

大疱性表皮松解症(epidermolysis bullosa, EB) 是一种罕见的遗传性皮肤疾病，其特征主要表现为皮肤易发生水疱和溃疡。近年来，有关EB 的遗传学和临床表型的研究取得了显著进展。EB 的致病基因主要编码与皮肤结构、功能密切相关的蛋白质，这些基因突变会影响角质形成和皮肤结构稳定性。EB 的临床表型有很大的异质性，从轻度的水疱和溃疡到严重的皮肤剥离。临床上将EB 分为4 个主要类型，不同类型的EB 存在不同的临床特征和病程。目前，EB 的治疗主要是支持性疗法，基因治疗、干细胞治疗和蛋白质替代疗法还需进一步研究。本文从EB 的遗传学、临床表型和治疗方法入手进行综述，以深入理解EB 的发病机制和寻找更有效的治疗策略，以期改善患者的预后。

通讯作者：沈小芳 , Email:2014202040048@whu.edu.cn 翟立红 , Email:zlh_0302@126.com

Research progress in genetics and treatment of epidermolysis bullosa

LIU Zi-Yuan^1,2 , SHEN Yun^1,2 , DONG Ming-Fei^1,2 , ZHANG Xin-Yi^1,2 , SHEN Xiao-Fang^1,2,* , ZHAI Li-Hong^1,2,*

¹Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang 441021, China ²School of Basic Medicine, Hubei University of Arts and Science, Xiangyang 441053, China

Abstract:

Epidermolysis bullosa (EB) is a rare hereditary dermatological condition distinguished by the skin’s delicate susceptibility to the formation of blisters and the emergence of ulcers. Recently, notable advancements have been achieved in genetic exploration and the clinical investigations of EB. Genetic investigations have uncovered that the basic reason for EB primarily is gene mutations, which disrupt the proteins related to the structure and function of the skin. These mutations can profoundly impact keratinization and the overall stability of the skin’s framework. The clinical presentation of EB showcases a remarkable spectrum of variability, from mild blistering and ulceration to severe skin desquamation. EB is classified into four primary types, each characterized by distinct clinical attributes and disease progression. Presently, the treatment for EB predominantly revolves around supportive care, while the exploration of gene therapy, stem cell therapy, and protein replacement therapy remains imperative for further breakthroughs. This article reviews the genetics, clinical phenotype, and treatment of EB. We aspire to delve into the intricate pathogenesis of EB, unearth more efficacious treatment strategies, and ultimately enhance the prognosis.

Communication Author：SHEN Xiao-Fang , Email:2014202040048@whu.edu.cn ZHAI Li-Hong , Email:zlh_0302@126.com