Deafness palmoplantar hyperkeratosis and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
| Author(s) : | Paula Marques-de-Faria Antonia LetØ£Âcia Cintra Maria Eduardo Steiner Carlos de Oliveira Gisele Viana, |
| Publisher : | N/A |
| Publication Date : | 2003 |
| ISSN : | N/A |
| Abstract : | 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., |