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Research Article | Volume 7 Issue 1 (None, 2013) | Pages 18 - 19
Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene
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Under a Creative Commons license
Open Access
PMID : PMC3622510
Received
Jan. 16, 2013
Published
March 30, 2013
Abstract

Congenital atrichia (CA) is a rare form of irreversible alopecia with an autosomal recessive mode of inheritance, usually associated with a mutation in the human hairless (HR) gene located at chromosome 8. Papular lesions may develop as an additional phenotypic feature. Herein we describe a case of CA supported by trichoscopy, histology and genetic analysis. The patient’s single brother had also universal alopecia. To our knowledge this is the second report of a specific pathogenic mutation (c.2818C>T) of the HR, which until now had only been identified in a family with CA and papular lesions, emphasizing the difficulty to establish a strict correlation between HR genotyping and the phenotype.

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