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Dyskeratosis follicularis

Forfatter(e)

Inger Lily Dorf1, Mette Sommerlund1, Anne-Bine Skytte2 & Uffe Koppelhus1

1) Dermato-Venerologisk Afdeling, Aarhus Universitetshospital 2) Klinisk Genetisk Afdeling, Aarhus Universitetshospital Ugeskr Læger 2018;180:V10170720

Reference: 
Ugeskr Læger 2018;180:V10170720
Blad nummer: 
Sidetal: 
2-6
Dyskeratosis follicularis

Dyskeratosis follicularis (or Darier’s disease) is a genetic skin disease with an autosomal dominant inheritance and a prevalence of 1:100,000-1:35,000. Mutations in the gene ATP2A2 encoding the Ca2+-ATPase SERCA2 in the endoplasmatic reticulum lead to acantholysis and dyskeratosis in the epidermis, nails and mucosal membranes with resultant brown-yellow coloured, often infested skin papules and nail changes. The newly established Danish database for genodermatoses is embarking on an extensive registration of all Danish patients with Darier’s disease. Hopefully, the establishment of this database will lead to better research and the formation of a patient association.

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