Flores-Terry M Á, García-Arpa M, Llamas-Velasco M, Mendoza-Chaparro C, Ramos-Rodríguez C
Servicio de Dermatología, Hospital General Universitario de Ciudad Real, Ciudad Real, España.
Servicio de Dermatología, Hospital General Universitario de Ciudad Real, Ciudad Real, España.
Actas Dermosifiliogr. 2017 Sep;108(7):e49-e52. doi: 10.1016/j.ad.2017.02.012. Epub 2017 Apr 10.
Darier disease is an autosomal-dominant inherited condition caused by mutation of a gene, which produces a protein involved in calcium channel regulation. The disease has a variety of manifestations and lacks consistent genotype-phenotype correlations. Acral hemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Other classic signs of the disease may be present in the same patient or relatives. Histopathology reveals dyskeratosis and suprabasal acantholysis with hemorrhagic lacunae. We report 3 new cases of this type of Darier disease triggered by injuries. Response to retinoid therapy was good.
毛囊角化病是一种常染色体显性遗传性疾病，由一个基因发生突变引起，该基因产生一种参与钙通道调节的蛋白质。该病有多种表现形式，且缺乏一致的基因型与表型相关性。肢端出血性毛囊角化病可在四肢引起斑疹、丘疹、水疱和/或出血性水疱。同一患者或其亲属身上可能还存在该病的其他典型体征。组织病理学显示有角化不良和基底层上棘层松解，并伴有出血性腔隙。我们报告了3例因外伤引发的此类毛囊角化病新病例。维甲酸治疗反应良好。
