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Title: Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.
Epworth Authors: Sinclair, Rodney
Yip, Leona
Other Authors: Horev, Liran
Zlotogorski, Abraham
Keywords: Department of Dermatology, Epworth HealthCare, Richmond, Victoria, Australia.
Atrichia with Papular Lesions
Papular Atrichia
Hair Follicle
Child, Preschool
Complete Irreversible Hair Loss
Skin Diseases
Transcription Factors
Chromosome 8p12
Issue Date: 2008
Publisher: Ingentaconnect
Citation: Acta Dermato-Venereologica. 2008;88(4):346-9. doi: 10.2340/00015555-0466.
Abstract: Atrichia with papular lesions is a rare autosomal recessive condition characterized by complete irreversible hair loss during the first months of life and papules that appear during early childhood. Atrichia with papular lesions is frequently misdiagnosed as alopecia universalis, despite increasing reports of its prevalence and the presence of well-defined diagnostic criteria. Most cases of atrichia with papular lesions have been reported in consanguineous families residing in small geographical regions, but the increasing number of sporadic cases of unrelated individuals suggests that atrichia with papular lesions is more common than previously thought. Mutations in the human hairless gene on chromosome 8p12 have been implicated in this disease. Here, we report two novel heterozygous mutations in an Australian family and a novel homozygous mutation in 2 Arab siblings. We also revise the diagnostic criteria for atrichia with papular lesions in order to clarify its uniqueness and distinguishing features from alopecia universalis.
DOI: 10.2340/00015555-0466
PubMed URL:
ISSN: 0001-5555
Journal Title: Acta Dermato-Venereologica
Type: Journal Article
Affiliated Organisations: Department of Dermatology, Skin and Cancer Foundation of Victoria, St Vincent's Hospital Melbourne, Victoria, Australia.
Type of Clinical Study or Trial: Case reports
Appears in Collections:Head & Neck

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