Review
Subject Categories: Genetics
Journal of Investigative Dermatology (2006) 126, 2370–2376. doi:10.1038/sj.jid.5700447; published online 22 June 2006
Autosomal-Dominant Calcium ATPase Disorders
Réka Szigeti1 and Richard Kellermayer2
- 1Department of Dermatology, University of Pécs, Pécs, Hungary
- 2Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary
Correspondence: Dr Richard Kellermayer, Department of Medical Genetics, University of Pécs, József A. u. 7., 7623 Pécs, Hungary. E-mail: richard.kellermayer@aok.pte.hu
Received 15 December 2005; Revised 28 April 2006; Accepted 11 May 2006; Published online 22 June 2006.
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.
Abbreviations:
DD, Darier disease; ER, endoplasmic reticulum; HHD, Hailey–Hailey disease; hSPCA, human secretory pathway Ca2+/Mn2+ ATPase; SERCA2, sarco/endoplasmic reticulum Ca2+-transport ATPase isoform 2
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