表皮松解型掌跖角化症的研究进展  

Research progress on epidermolytic palmoplantar keratoderma

作　　者：何丽 陈慧[1] 林雪霏[1] 李曼[1] 隋长霖 朱威[1] HE Li;CHEN Hui;LIN Xue-fei(Department of Dermatology,Xuwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院皮肤性病科,北京100053

出　　处：《实用皮肤病学杂志》2021年第2期88-90,94,共4页Journal of Practical Dermatology

摘　　要：表皮松解型掌跖角化症(EPPK)是一组常染色体显性遗传性皮肤病,以手掌和足跖弥漫性角化过度为主要临床表现,具有表型异质性。KRT9基因突变为该病的主要致病因素之一,目前已鉴定出KRT9基因的33个突变与该病有关。小干扰RNA敲除突变基因和生殖遗传学、优生学的研究对治疗该病具有重要意义。该文对EPPK的发病机制、临床表现和治疗进行综述。Epidermolytic palmoplantar keratoderma(EPPK)is a group of autosomal dominant hereditary skin disease.The main clinical manifestations of EPPK are diffuse hyperkeratosis of the palm and plantar,which has phenotypic heterogeneity.KRT9 gene mutation is one of the main pathogenic factors of the disease.A total of 33 kinds of KRT9 gene mutations had been identified associated with EPPK.The studies of small interference RNA knockout of mutant genes,reproductive genetics and eugenics are of great significance to the treatment of the disease.The pathogenesis,clinical manifestations and treatments of EPPK are discussed in this article.

关 键 词：掌跖角化症 角蛋白 KRT9基因 

分 类 号：R758.53[医药卫生—皮肤病学与性病学]