Histological characterization of Darier's disease in Tunisian families
- Kassar, S
- Tounsi-Kettiti, H
- Charfeddine, C
- Zribi, H
- Bchetnia, M
- Jerbi, E
- Mokni, M
- Osman, A BEN
- Abdelhak, S
- Boubaker, Selmen
DOIAbstract
International audienceBackground Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca<SU2+</SU ATPase type 2 isoform (SERCA2). Objective We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations. Results The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian pa...
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