title: Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
abstract: Congenital atrichia with papular lesions is a rare, autosomal recessive form of total alopecia and mutations in the hairless (hir) gene have been implicated in this disorder. Published estimates of the prevalence of this disorder remain surprisingly low considering pathogenetic mutations in hir have been found in distinct ethnicities around the world. Therefore, it is likely that congenital atrichia with papular lesions is far more common than previously thought and is often mistaken for its phenocopy, the putative autoimmune form of alopecia universalis. To clarify this discrepancy, we propose criteria for the clinical diagnosis of congenital atrichia with papular lesions. Among these is the novel report of the consistent observation of hypopigmented whitish streaks on the scalp surface of affected individuals. Additionally, we report the identification of a novel missense mutation in hir from a family of Arab Palestinian origin that exhibits the pathognomonic features of atrichia with papular lesions. Collectively, we anticipate that an increased recognition of this disorder will result in more accurate diagnosis and the sparing of unnecessarily treatment to patients.
authors.affiliation: Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: A A
authors.initials: AA
authors.lastname: Panteleyev
authors.forename: V M
authors.initials: VM
authors.lastname: Aita
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000505:Alopecia / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012535:Scalp / Q000473:pathology; D017444:Skin Diseases, Papulosquamous / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D014157:Transcription Factors
chemical_list: C490267:HR protein, human; D011506:Proteins; D014157:Transcription Factors