Pinheiro M, Freire-Maia N
Department of Genetics, Federal University of Paraná, Curitiba, PR, Brasil.
Clin Genet. 1992 Jun;41(6):296-8. doi: 10.1111/j.1399-0004.1992.tb03401.x.
An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155.
本文描述了一种明显迄今未被描述的毛发-甲营养不良亚型的纯外胚层发育不良。其病因是一个具有完全外显率和可变表达性的常染色体显性基因。鉴别诊断考虑了属于同一亚型的18种病症以及克劳斯综合征。本报告将毛发-甲营养不良亚型的病症数量增加到19种,外胚层发育不良的总数增加到155种。