Wang H J, Lin Z M
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.
Zhonghua Yi Xue Za Zhi. 2021 Apr 27;101(16):1128-1131. doi: 10.3760/cma.j.cn112137-20201120-03149.
Progressive symmetric erythrokeratodermia (PSEK) comprises a group of clinically and genetically heterogeneous diseases. Previous research have identified 3 and 4 as the leading genetic causes of this disorder. With the rapid development of genetics, 1, , 83 and 4 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 7 as the causative gene of Nagashima-type palmoplantar keratosis recently, differentiation between the two disorders could be easily distinguished.
进行性对称性红斑角皮症（PSEK）包含一组临床和遗传异质性疾病。先前的研究已确定3号和4号基因是该疾病的主要遗传病因。随着遗传学的快速发展，1号、 、83号和4号基因已被确定为PSEK的新致病基因，这使得对其临床特征和遗传机制有了进一步的了解。值得注意的是，长岛型掌跖角化病常被我国皮肤科医生误诊为PSEK。由于最近确定7号基因是长岛型掌跖角化病的致病基因，这两种疾病之间的鉴别诊断变得容易区分。
