title: Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.
abstract: Atrichia with papular lesions is a rare autosomal recessive form of alopecia characterized by hair loss soon after birth and the development during childhood of a diffuse papular rash. We have previously shown that this disorder results from a deleterious mutation in the human hairless gene, a gene also involved in the pathogenesis of a related but clinically distinct form of congenital alopecia, termed alopecia universalis congenita. In this report, we describe a novel nonsense mutation in exon 4 of the human hairless gene in a consanguineous kindred affected with atrichia with papular lesions. This report provides additional evidence for phenotypic heterogeneity among inherited atrichias and for an association between the papular rash of atrichia with papular lesions and nonsense mutations in the human hairless gene.
authors.affiliation: Department of Dermatology, Rambam Medical Center, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
authors.forename: G G
authors.initials: GG
authors.lastname: Lestringant
authors.forename: R
authors.initials: R
authors.lastname: Szargel
authors.forename: R
authors.initials: R
authors.lastname: Bergman
authors.forename: V
authors.initials: V
authors.lastname: Labay
authors.forename: P M
authors.initials: PM
authors.lastname: Frossard
authors.forename: R
authors.initials: R
authors.lastname: Friedman-Birnbaum
authors.forename: N
authors.initials: N
authors.lastname: Cohen
mesh_terms: D000505:Alopecia / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D010641:Phenotype