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Darier disease
Monday 1 November 2004
Definition: Darier-White disease, also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities. The prevalence of the disease had been estimated at 1 in 55,000.
Images
Darier’s disease ; acantholytic dyskeratosis
Etiology
germline mutations in the gene encoding the SERCA2 Ca(2+)-ATPase (ATP2A2) (MIM.108740)
References
Hovnanian A. Darier’s disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency.
Biochem Biophys Res Commun. 2004 Oct 1;322(4):1237-44. PMID: 15336971
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM. Calcium pumps and keratinocytes: lessons from Darier’s disease and Hailey-Hailey disease. Br J Dermatol. 2004 May;150(5):821-8. PMID: 15149492