title: [Darier disease].
abstract: Darier disease (Darier-White disease, dyskeratosis follicularis) is a rare autosomal dominant genodermatosis with regional differences in prevalence. The responsible mutations have been identified on chromosome 12q23-24.1. The gene encodes a calcium-ATPase type 2 in the sarco-/endoplasmic reticulum (SERCA2), which belongs to the large family of P-type cation pumps. This pump couples ATP hydrolysis to the transport of cations across membranes and thus plays a significant role in intracellular calcium signaling. Neuropsychiatric disorders are often associated with Darier disease. However, these diseases are not due to mutations in the gene ATP2A2 but to a susceptibility locus in a 6.5 Mb region near this gene. Currently, the treatment is strictly limited to the relief of symptoms. In severe cases, oral retinoids (acitretin: initial 10-20 mg/Tag and isotretinoin: 0.5-1 mg/kg/day) lead to a response in 90% of cases. However, side effects often prevent long-term use of vitamin A derivatives.
authors: Universitätsklinik für Dermatologie der Paracelsus Medizinischen Privatuniversität Salzburg, Müllner Hauptstr. 48, 5020, Salzburg, Österreich. a.klausegger@salk.at
authors: A
authors: A
authors: Klausegger
authors: M
authors: M
authors: Laimer
authors: J W
authors: JW
authors: Bauer
mesh_terms: D007644:Darier Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D012176:Retinoids / Q000627:therapeutic use*; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*; D014801:Vitamin A / Q000627:therapeutic use*
chemical_list: D012176:Retinoids; D014801:Vitamin A; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human