Bart-pumphrey syndrome M72.11

Very rare, autosomal dominant inherited genodermatosis with syndrome of knuckle pads, hearing loss and leukonychia. It is based on a mutation of the GJB2 gene (connexin 26). The clinical symptoms overlap with those of Vohwinkel's syndrome, which is also based on a mutation of the GJB2 gene. However, the lacing rings are missing.

Diffuse palmo-plantar keratosis with fibromatous skin thickening over the interphalangeal joints of fingers and toes(true knuckle pads), white coloration of all nails (leukonychia), progressive sensorineural hearing loss, up to deafness.

1. Bart RS, Pumphrey RE (1967) Knuckle pads, leukonychia and deafness. New Engl J Med 276: 202-207
2. de Oliveira GV et al (2003) Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome. Genetics and Molecular Biology 26: 129-131
3. Schwann J (1963) Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium. Dermatologica 126: 335-353
4. Ramer JC et al (1994) Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J Med Genet 31: 68-71