Svensk definition
En autosomalt dominant, ärftlig hudsjukdom som kännetecknas av vårtiga, illaluktande papler som smälter samman med tiden. Den orsakas av mutation i det ATP2A2-genkodande SERCA-proteinet, en av de sarkoplasmatiskt retikulum kalciumtransporterande ATPaserna. Tillståndet liknar kliniskt och histologis benign familjär pemfigus, en annan autosomalt dominant hudsjukdom. Båda sjukdomarna har defekta kalciumpumpar (kalciumtransporterande ATPaser) och instabila bindkroppar mellan keratinocyter.
Engelsk definition
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.
Svenska synonymer
Keratosis follicularis — Acrokeratosis verruciformis
Engelska synonymer
Disease, Darier — Darier's Disease — Dariers Disease — Disease, Darier's — Keratosis Follicularis — Darier-White Disease — Darier White Disease — Darier-White Diseases — Disease, Darier-White — Diseases, Darier-White — Acrokeratosis Verruciformis of Hopf — Hopf Acrokeratosis Verruciformis — Hopf Disease — Disease, Hopf — Diseases, Hopf — Hopf Diseases — Acrokeratosis Verruciformis — Verruciformis, Acrokeratosis — Acantholytic Dyskeratotic Epidermal Nevus — Acantholytic Dyskeratotic Epidermal Nevi