Sanches Sarah, Rebellato Priscila Regina Orso, Fabre Andréa Buosi, Campos Giovana Liz Marioto de
Dermatology Outpatient Clinic, Hospital Universitário Evangélico de Curitiba, Faculdade Evangélica do Paraná (HUEC-FEPAR) - Curitiba (PR) Brazil.
An Bras Dermatol. 2017 May-Jun;92(3):417-418. doi: 10.1590/abd1806-4841.20175716.
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.
外胚层发育不良是指在外胚层起源的两个或更多组织中出现原发性缺陷的病症,可分为少汗型和多汗型。多汗型外胚层发育不良或克劳斯综合征是一种常染色体显性遗传性皮肤病,表现为三联征临床症状:掌跖角化病、甲营养不良和毛发稀少。毛发稀疏且易折断。指甲增厚且发育异常,这是该综合征的一个基本特征。诊断基于临床症状。本研究报告了一例患者,该患者在幼儿期就开始出现毛发、指甲和掌跖角化病的变化。