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Title: Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna.
Epworth Authors: Sinclair, Rodney
Other Authors: Green, Jack
Fitzpatrick, E.
de Berker, D.
Forrest, S. M.
Keywords: Cleft Lip
Cleft Palate
Diagnosis, Differential
Nail Diseases
Hair Loss
Marie Unna Hereditary Hypotrichosis
Head & Neck Clinical Institute, Epworth HealthCare, Victoria, Australia
Issue Date: Jun-2003
Publisher: Elsevier
Citation: J Investig Dermatol Symp Proc. 2003 Jun;8(1):121-5.
Abstract: Marie Unna hereditary hypotrichosis has been described in over a dozen families since 1924. Features include scant or no eyebrows at birth, the development of firm wiry hair in the first few years of life followed by a progressive patterned scalp alopecia in the second or third decade. This is associated with generalized hypotrichosis of the body and the condition is nonsyndromic. We have identified a novel form of autosomal dominant ectodermal dysplasia that resembles Marie Unna hereditary hypotrichosis in a family of 23 members over four generations. Affected individuals have patterned hair loss and associated hair shaft dystrophy similar to that seen in Marie Unna hereditary hypotrichosis. It differs from Marie Unna hereditary hypotrichosis by an absence of signs of affectation at birth, relative sparing of body hair, distal onycholysis, and intermittent cosegregation with autosomal dominant cleft lip and palate. Linkage studies to the known Marie Unna locus at 8p21 near the Hairless gene were performed. Linkage analysis using markers D8S298, D8S560, D8S258, and D8S282 revealed significant exclusion of this locus (Z = -2.0 or lower) at theta = 0.1. This demonstrates that this novel ectodermal dysplasia is both phenotypically and genetically distinct from Marie Unna hereditary hypotrichosis.
DOI: 10.1046/j.1523-1747.2003.12185.x
PubMed URL:
ISSN: 1087-0024
Journal Title: Journal of Investigative Dermatology Symposium Proceedings
Type: Journal Article
Affiliated Organisations: Department of Dermatology, St Vincent's Hospital, Melbourne, Victoria, Australia.
Murdoch Childrens Research Institute, The Royal Children's Hospital, Melbourne, Victoria, Australia.
Bristol Dermatology Center, Bristol Royal Infirmary, Bristol, UK.
Type of Clinical Study or Trial: Cohort Study
Appears in Collections:Dermatology
Head & Neck

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