单纯遗传性少毛症

Hereditary hypotrichosis simplex.

作者信息

Just M, Ribera M, Fuente M J, Bielsa I, Ferrándiz C

机构信息

Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.

出版信息

Dermatology. 1998;196(3):339-42. doi: 10.1159/000017909.

DOI:10.1159/000017909

PMID:9621144

Abstract

Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary hypotrichosis simplex (HHS), is especially uncommon. We present a Spanish family with 8 of 19 persons covering 4 generations affected by HHS. No associated ectodermal or other defects were noted. The pedigree was compatible with an autosomal dominant inheritance with variable penetrance.

摘要

毛发稀少是多种复杂遗传综合征中较为常见的特征。然而，被称为单纯遗传性毛发稀少（HHS）的孤立变异型却尤为罕见。我们报告了一个西班牙家庭，19名成员中有8人受HHS影响，涵盖4代。未发现相关的外胚层或其他缺陷。该家系符合常染色体显性遗传且具有可变外显率。