中国麻风皮肤病杂志 ›› 2019, Vol. 35 ›› Issue (6): 380-384.doi: 10.12144/zgmfskin201906380

• 综述 • 上一篇    

遗传性大疱性表皮松解症致病基因研究进展

于越乾1  暴芳芳2  刘红2   

  1. 1济南大学山东省医学科学院医学与生命科学学院,山东济南,250000
    2山东省皮肤病医院&山东省皮肤病性病防治研究所,山东第一医科大学&山东省医学科学院，山东济南,250022
  • 出版日期:2019-06-15 发布日期:2019-06-10
  • 通讯作者: 刘红，E-mail：hongyue2519@hotmail.com

Progress in the study of pathogenic genes in hereditary epidermolysis bullosa

YU Yueqian1，BAO Fangfang2，LIU Hong2   

  1. 1. School of Medicine and Life Science, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250000, China; 
    2. Shandong Provinicial Hospital for Skin Disease & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Acaderny of Medical Sciences, Jinan 250022, China
  • Online:2019-06-15 Published:2019-06-10
  • Contact: LIU Hong, E-mail: hongyue2519@hotmail.com

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摘要： 遗传性大疱性表皮松解症(EB)是由皮肤中各种结构蛋白的遗传基因突变导致的一组机械性大疱病，临床主要表现为机械性脆性皮肤、张力性大疱和结痂等。根据电子显微镜下水疱的位置，大疱性表皮松解症分为4类不同的临床亚型，分别是单纯型EB、交界型EB、营养不良型EB以及Kindler综合征。迄今为止，已发现19个导致大疱性表皮松解症发生的基因。本文对大疱性表皮松解症的致病基因以及各基因型和临床表型之间的关系进行了综述。

关键词: 大疱性表皮松解症, 基因, 表型, 遗传学

Abstract: Hereditary epidermolysis bullosa (EB) is a group of mechanical bullous disease caused by genetic mutations in various structural protein of the skin. The main clinical features are mechanical fragile skin, tension blisters and encrustation. According to the position of the blisters under the electron microscope, epidermolysis bullousa can be divided into four different clinical phenotype: EB simplex, junctional EB, dystrophic EB and Kindler syndrome. To date, 19 caustive genes have been discovered. The pathogenic genes of epidermolysis bullosa and the relationship between genotype and clinical phenotype are reviewed in this article.

Key words: epidermolysis bullosa, genes, phenotype, heredity