Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene

Journal of Dermatological Case Reports

Joana Pardal²  Ana Pedrosa¹  Filomena Azevedo¹  Alberto Mota³  Ana Filipa Duarte³  Paulo Morais³ 

[1] Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal;;Department of Pathology, Centro Hospitalar São João EPE, Porto, Portugal.Department of Dermatology and Venereology, Faculty of Medicine, University of Porto, Portugal;

关键词: alopecia;    atrichia;    child;    dermoscopy;    hair;    hypopigmentation;    hypotrichosis;    mutation;    trichoscopy;   

DOI  :  10.3315/jdcr.2013.1125

学科分类：皮肤病学

来源: Specjalisci Dermatolodz

【 摘 要 】

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.

【 授权许可】

Unknown