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

AUTOR(ES)

Oliveira, Gisele Viana de, Steiner, Carlos Eduardo, Cintra, Maria Letícia, Marques-de-Faria, Antonia Paula

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

2003

RESUMO

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.

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