Chapter 4 - Endocrine, nutritional and metabolic diseases (E00-E89)»Other nutritional deficiencies (E50-E64)»Other manifestations of vitamin A deficiency (E50.8)
E50.8
Other manifestations of vitamin A deficiency
Related indications (MeSH) (1)
Darier Disease1 drug (1 approved)
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.