进行性对称性红斑角化症的诊断与思考

Diagnosis and progress in the progressive symmetric erythrokeratodermia

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.