Zusammenfassung
Der Morbus Darier (Morbus Darier White, Dyskeratosis follicularis) ist eine seltene, autosomal-dominant vererbte Genodermatose mit einer regional sehr unterschiedlichen Prävalenz. Die der Erkrankung zugrunde liegenden Mutationen wurden auf Chromosom 12q23-24.1 identifiziert. Das Gen kodiert für eine Kalzium-ATPase-Typ 2 des sarko-/endoplasmatischen Retikulums (SERCA2), die zur großen Familie der P-Typ-Kationenpumpen gehört und mittels ATP-Hydrolyse den Kationentransport über Membranen hinweg koppelt und somit eine bedeutende Rolle im intrazellulären Kalzium-Signalweg spielt. Neuropsychiatrische Erkrankungen werden mit dem Morbus Darier häufig in Verbindung gebracht. Allerdings sind diese Erkrankungen nicht auf Mutationen im ATP2A2-Gen zurückzuführen, sondern auf einen Suszeptibilitätslocus in einer 6,5-Mb-Region in der Nähe dieses Gens. Momentan beschränkt sich die Therapie ausschließlich auf die symptomatische Linderung der Beschwerden. In schweren Fällen werden orale Retinoide (Acetretin: initial 10–20 mg/Tag und Isotretinoin: 0,5–1 mg/kg/Tag) mit einem Ansprechen von etwa 90% eingesetzt. Allerdings beschränken Nebenwirkungen den dauernden Einsatz von Vitamin-A-Derivaten.
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.
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Vielen Dank an Dr. Rudolf Hametner für die Bereitstellung der klinischen Bilder.
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Klausegger, A., Laimer, M. & Bauer, J. Morbus Darier. Hautarzt 64, 22–25 (2013). https://doi.org/10.1007/s00105-012-2408-x
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DOI: https://doi.org/10.1007/s00105-012-2408-x