|
skos:definition |
CSP: slowly progressive autosomal dominant disorder of keratinization with papules on the seborrheic areas of the body that coalesce to form plaques which may become crusted and secondarily infected; lesions may darken and fuse over time to form papillomatous and warty malodorous growths.,MSH: 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.,NCI: An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears,
|
