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A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation

1 Jul 2003

Abstract excerpt

Darier's disease is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of Darier's disease. Segmental Darier's disease is a rare type of Darier's disease in which there is characteristic...

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PMID: 12890216
DOI: 10.1046/j.1365-2133.2003.05412.x

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