Histological characterization of Darier's disease in Tunisian families

S Kassar (1, 2) , H Tounsi-Kettiti (1) , C Charfeddine (1) , H Zribi (2, 3) , M Bchetnia (2, 1) , E Jerbi (1) , M Mokni (2, 3) , a Ben Osman (3) , S Abdelhak (1) , Selmen Boubaker (1)

1 Institut Pasteur de Tunis
2 Study of Hereditary Keratinization Disorders Research Unit. UR 24/04
3 Department of Dermatology

Background 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

Keywords: genodermatosis; histopathology; ATP2A2; clinical severity; Darier's disease

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Genetics; Human genetics

S Kassar, H Tounsi-Kettiti, C Charfeddine, H Zribi, M Bchetnia, et al.. Histological characterization of Darier's disease in Tunisian families. Journal of the European Academy of Dermatology and Venereology, 2009, 23 (10), pp.1178 - 1183. ⟨10.1111/j.1468-3083.2009.03283.x⟩. ⟨pasteur-01375319⟩