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常染色体显性钙ATP酶疾病

Autosomal-dominant calcium ATPase disorders.

作者信息

Szigeti Réka, Kellermayer Richard

机构信息

1Department of Dermatology, University of Pécs, Pécs, Hungary.

出版信息

J Invest Dermatol. 2006 Nov;126(11):2370-6. doi: 10.1038/sj.jid.5700447. Epub 2006 Jun 22.

Abstract

Darier disease (DD) and Hailey-Hailey disease (HHD) are the only known autosomal-dominant Ca2+ ATPase disorders. Epidermal symptoms selectively occur in the affected individuals, the precise reason for which is still not fully understood. Here, we review the clinical, epidermal, and molecular features of the two genodermatoses. It is concluded that epidermal Ca2+ regulation disturbances and epigenetic factors may play an even more prominent role in the pathogenesis of DD and HHD than earlier appreciated.

摘要

Darier病(DD)和Hailey-Hailey病(HHD)是仅有的已知常染色体显性钙ATP酶疾病。表皮症状选择性地出现在受影响个体中,其确切原因仍未完全明确。在此,我们综述这两种遗传性皮肤病的临床、表皮和分子特征。得出的结论是,表皮钙调节紊乱和表观遗传因素在DD和HHD的发病机制中可能比之前所认识到的发挥更突出的作用。

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