Congenital atrichia associated with an uncommon mutation of HR gene

Ana Pedrosa, Ana Nogueira, Paulo Morais, Ana Filipa Duarte, Joana Pardal, Alberto Mota, Filomena Azevedo

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.

(J Dermatol Case Rep. 2013; 7(1): 18-19)


Keywords


alopecia; atrichia; child; dermoscopy; hair; hypopigmentation; hypotrichosis; mutation; trichoscopy

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