- Bart-Pumphrey syndrome
Knuckle pads syndrome, knuckle pads-leukonychia-deafness syndrome, knuckle pads-leukonychia-sensineural deafness syndrome. Knöchelpolster-Leukonychie-Taubheits-Syndrom (German).
A congenital syndrome marked by deafness, leukonychia and knuckle pads. Keratoderma plantaris and palmarsis may also occur. Etiology unknown. It is a familial hereditary syndrome, transmitted as an autosomal dominant trait. First described in 1963 by J. Schwann based on an extensive family. Syndrome delimited in anglo-saxon literature 1967 by Robert S. Bart and Robert E. Pumphrey.
- J. Schwann:
Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium.
Dermatologica, Basel, 1963; 126: 335-353. Article in German.
[Keratosis palmaris et plantaris with congenital deafness and total leukonychia.]
- R. S. Bart, R. E. Pumphrey:
Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome.
New England Journal of Medicine, Boston, January 1967, 276 (4): 202-207.