Genetics and Molecular Biology
Print version ISSN 1415-4757
OLIVEIRA, Gisele Viana de; STEINER, Carlos Eduardo; CINTRA, Maria Letícia and MARQUES-DE-FARIA, Antonia Paula. Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome. Genet. Mol. Biol. [online]. 2003, vol.26, n.2, pp. 129-131. ISSN 1415-4757. http://dx.doi.org/10.1590/S1415-47572003000200004.
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.
Keywords : deafness; knuckle pads; palmoplantar keratoderma; hyperkeratosis; Bart-Pumphrey syndrome.