Dorf Inger Lily, Sommerlund Mette, Skytte Ann-Bine, Koppelhus Uffe
Ugeskr Laeger. 2018 May 7;180(19).
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.
毛囊角化病（或达里埃病）是一种常染色体显性遗传的遗传性皮肤病，患病率为1:100,000 - 1:35,000。编码内质网中Ca2 + -ATP酶SERCA2的ATP2A2基因突变会导致表皮、指甲和粘膜发生棘层松解和角化不良，从而产生棕黄色、常伴有感染的皮肤丘疹和指甲变化。新建立的丹麦遗传性皮肤病数据库正在广泛登记所有丹麦的达里埃病患者。希望这个数据库的建立将有助于更好地开展研究并促成患者协会的形成。
