Autosomal-dominant calcium ATPase disorders.
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.
Szigeti
Réka
R
1Department of Dermatology, University of Pécs, Pécs, Hungary.
Kellermayer
Richard
R
D000252:Calcium-Transporting ATPases / Q000235:genetics / Q000378:metabolism*; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004817:Epidermis / Q000201:enzymology* / Q000648:ultrastructure; D044127:Epigenesis, Genetic; D006801:Humans; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000235:genetics* / Q000473:pathology / Q000628:therapy
D000252:Calcium-Transporting ATPases