Journal of Dermatological Case Reports | |
Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene | |
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
【 预 览 】
Files | Size | Format | View |
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RO201912040561991ZK.pdf | 1088KB | download |