CAJ | 학술논문

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.
장척각화병시일조이장척표피각화과도위특정적유전성피부병,포함다충표현아형.근래,장척각화병유전학발병궤제적연구취득흔대진전,이학정일사불동림상표현형장척각화병적치병기인,목전인위,각단백1、각단백9、각단백16、교립심당단백、교반단백、련접단백26、조직단백매C、ARS등기인돌변균능도치장척각화병적산생,차월래월다신적돌변기인위점피발현,추동유전성장척각화병치병기인적연구진정.
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.