César Bimbi, Piotr Brzezinski, Katarzyna Borowska

摘要

Darier disease is an autosomal-dominant disorder of keratin production which leads to a loss in epithelial adhesionand abnormal keratinization. The clinical correspondence is keratotic papules grouped in sebaceous areas of trunk,scalp, forehead and flexures. It is a rare disease and the variant focused on here of unilateral segmental distributionfollowing the lines of Blaschko is rarer still, considering the fact that this presentation counts for only 10% of thisalready uncommom disease and with only 40 cases being reported in English medical literature. Mutation in thisgene is expressed in the skin and brain. The treatment of Darier disease can be challenging and is often difficult andsometimes unsatisfactory. Systemic retinoids are considered the drug of choice for treating Darier disease. However,their use is limited by potential side effects. We described the case a metalworker male with unilateral segmentalDarier disease following Blaschko lines and we review the literature on this subject.