Article
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Experimental dermatology - 1 Feb 2001
Ringpfeil F, Raus A, DiGiovanna J J, Korge B, Harth W, Mazzanti C, Uitto J, Bale S J, Richard G
Abstract excerpt
Darier disease (DD) is with a frequency of up to 1 in 36,000 a relatively common genodermatosis with autosomal dominant inheritance and late age of onset. The progressive skin manifestations are variable, but often debilitating and disfiguring, and may be associated with a wide range of neuropsychiatric problems, such as epilepsy and depression. On histology, acantholysis and dyskeratosis are prominent findings,...
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