title: Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene.
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.
authors.affiliation: Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal;
authors.forename: Ana
authors.initials: A
authors.lastname: Pedrosa
authors.forename: Ana
authors.initials: A
authors.lastname: Nogueira
authors.forename: Paulo
authors.initials: P
authors.lastname: Morais
authors.forename: Ana Filipa
authors.initials: AF
authors.lastname: Duarte
authors.forename: Joana
authors.initials: J
authors.lastname: Pardal
authors.forename: Alberto
authors.initials: A
authors.lastname: Mota
authors.forename: Filomena
authors.initials: F
authors.lastname: Azevedo
keywords: alopecia; atrichia; child; dermoscopy; hair; hypopigmentation; hypotrichosis; mutation; trichoscopy