慢性家族性良性天疱疮发病机制的研究进展

Hailey-Hailey病(HHD),又称为慢性家族性良性天疱疮,是一种少见的常染色体显性遗传病,以表皮棘层松解为特征,具体发病机制尚不清楚。HHD由钙依赖性ATP酶基因遗传缺陷引起,该基因编码人类分泌途径钙离子转运ATP酶1型(SPCA1),在角质形成细胞内高度表达。本文就近年来有关HHD发病机制的研究进展进行综述,为今后该病相关研究提供理论基础。

Advances in the Pathogenesis of Familial Chronic Benign Pemphigus

HHD,also known as familial benign chronic pemphigus,is a rare autosomal dominant hereditary skin disease,characterized by dissociation of epidermal keratinocytes(acantholysis)at the suprabasal layer of the epidermis.The precise mechanism remains unclear.HHD is caused by heterozygous mutation in the ATP2 C1 gene,which encodes human secretory pathway Ca^2+/Mn^2+ATP2 C1 ase1 protein(SPCA1),which is highly expressed in keratinocytes.In this paper,the recent studies on the pathogenesis of familial benign chronic pemphigus were reviewed,providing a theoretical basis for future studies on the pathogenesis of HHD.