Darier's Disease in Twins – A Case Report and Review of the Literature

Abstract

Darier's disease is a rare genomic autosomal dominant disease characterized by keratinization disorders with primary localization in the hair follicle. The causative gene is located at chromosome 12, region 12q23-24.1. and encodes the SERCA2-ATP-ase enzyme that has a role in calcium homeostasis, subsequently causing keratinization disorders. We present the clinical case of two 42-year-old twin women with typical lesions of the disease. The histological and genetic examination of one of the patients has confirmed the clinical diagnosis of Darier’s disease. The prevalence of the disease has been estimated at about 1:55.000, but no concrete data with regards to the occurrence rate of it amongst twins being published. We have found four clinical cases in which the disease occurred amongst twins, the key feature of the presented cases being the rare occurrence of Darier's disease.