摘要
进行性对称性红斑角化症(PSEK)包含一组临床及遗传学异质性较强的疾病,既往研究认为GJB3和GJB4是其主要致病基因。随着遗传学研究快速进展,国内外团队近年陆续发现PSEK的全新致病基因GJA1、KDSR、KRT83、TRPM4,促使PSEK的临床特征和遗传学发病机制得到进一步认识。值得注意的是,我国皮肤科医生既往普遍将长岛型掌跖角化症误诊为PSEK,随着长岛型掌跖角化症致病基因被发现,两种疾病的区别应逐步得到认识。
Progressive symmetric erythrokeratodermia(PSEK)comprises a group of clinically and genetically heterogeneous diseases.Previous research have identified GJB3 and GJB4 as the leading genetic causes of this disorder.With the rapid development of genetics,GJA1,KDSR,KRT83 and TRPM4 have been identified as the new causative genes for PSEK,leading to a further understanding of its clinical features and genetic mechanisms.It′s worth noting that Nagashima-type palmoplantar keratosis was often misdiagnosed as PSEK by our domestic dermatologists.Due to the identification of SERPINB7 as the causative gene of Nagashima-type palmoplantar keratosis recently,differentiation between the two disorders could be easily distinguished.
作者
汪慧君
林志淼
Wang Huijun;Lin Zhimiao(Department of Dermatology,Peking University First Hospital,Beijing Key Laboratory of Molecular Diagnosis on Dermatoses,National Clinical Research Center for Skin and Immune Diseases,Beijing 100034,China)
出处
《中华医学杂志》
CAS
CSCD
北大核心
2021年第16期1128-1131,共4页
National Medical Journal of China
关键词
红斑角化
单基因遗传病
基因突变
Erythrokeratodermia
Monogenetic disease
Gene mutation
