Autosomal-dominant calcium ATPase disorders

Réka Szigeti; Richard Kellermayer

doi:10.1038/sj.jid.5700447

Autosomal-dominant calcium ATPase disorders

Réka Szigeti, Richard Kellermayer

Research output: Contribution to journal › Review article › peer-review

55 Scopus citations

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.

Original language	English (US)
Pages (from-to)	2370-2376
Number of pages	7
Journal	Journal of Investigative Dermatology
Volume	126
Issue number	11
DOIs	https://doi.org/10.1038/sj.jid.5700447
State	Published - Nov 15 2006

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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AB - 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.

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Autosomal-dominant calcium ATPase disorders

Abstract

ASJC Scopus subject areas

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