Autosomal-dominant calcium ATPase disorders

Réka Szigeti, Richard Kellermayer

Research output: Contribution to journalReview articlepeer-review

49 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 languageEnglish (US)
Pages (from-to)2370-2376
Number of pages7
JournalJournal of Investigative Dermatology
Volume126
Issue number11
DOIs
StatePublished - Nov 15 2006

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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