掌跖角化病致病基因研究进展

掌跖角化病是一组以掌跖表皮角化过度为特征的遗传性皮肤病,包含多种表现亚型.近来,掌跖角化病遗传学发病机制的研究取得很大进展,已确定一些不同临床表现型掌跖角化病的致病基因,目前认为,角蛋白1、角蛋白9、角蛋白16、桥粒芯糖蛋白、桥斑蛋白、连接蛋白26、组织蛋白酶C、ARS等基因突变均能导致掌跖角化病的产生,且越来越多新的突变基因位点被发现,推动遗传性掌跖角化病致病基因的研究进程.

Pathogenic genes of palmoplantar keratoderma

Palmoplantar keratoderma (PPK) is a group of inherited dermatoses characterized by palmoplantar hyperkeratosis. There are a variety of clinical subtypes of PPK. Recently, considerable progress has been achieved in studies on genetic pathogenesis of PPK. Many pathogenic genes have been identified for some clinical subtypes of PPK. The development of PPK is considered to be associated with the mutations of genes encoding keratin 1, keratin 9, keratin 16, desmoglein 1, desmoplakin, connexin 26, cathepsin C, ARS, etc. Now more and more novel mutations have been identified, which will accelerate the process of research in causative genes of PPK.