Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
Congenital atrichia with papular lesions is a rare, autosomal recessive form of total alopecia and mutations in the hairless (hr) gene have been implicated in this disorder. Published estimates of the prevalence of this disorder remain surprisingly low considering pathogenetic mutations in hr have been found in distinct populations around the world. Therefore, it is likely that congenital atrichia with papular lesions is more common than previously thought and is often mistaken for 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 hr 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.
Zlotogorski
Abraham
A
Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel.
Panteleyev
Andrei A
AA
Aita
Vincent M
VM
Christiano
Angela M
AM
D000465:Algorithms; D000505:Alopecia / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012535:Scalp / Q000473:pathology*; D014157:Transcription Factors
C490267:HR protein, human; D011506:Proteins; D014157:Transcription Factors