Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

Genetics and Molecular Biology

Gisele Viana De Oliveira²  Carlos Eduardo Steiner¹  Maria Letícia Cintra¹  Antonia Paula Marques-de-faria¹ 

[1] ,Universidade Católica de Campinas Faculdade de Ciências Médicas Departamento de DermatologiaCampinas SP ,Brazil

关键词: deafness;    knuckle pads;    palmoplantar keratoderma;    hyperkeratosis;    Bart-Pumphrey syndrome;   

DOI  :  10.1590/S1415-47572003000200004

来源: SciELO

【 摘 要 】

We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed.

【 授权许可】

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