Inherited syndrome with knuckle pads, leukonychia, and
Incidence unknown. In 1967, Bart
and Pumphrey described the syndrome in a large kindred and three families.
Autosomal dominant inheritance. The mutation seems to affect the GJB2 gene encoding
the gap junction protein connexin-26.
Hearing loss is caused by a cochlear defect.
Features include knuckle pads and leukonychia (possible on fingers and
toes). Keratosis palmoplantaris is common in older patients.
Considering hearing loss, adapted
preoperative explanations should be given to the patients to prevent
anxiety. Leukonychia can alter accuracy of pulse oximetry.
Vohwinkel Syndrome: Congenital deafness with keratopachyderma and
constrictions of fingers and toes.
Keratitis Ichtyosis Deafness (KID) Syndrome: A form of ectodermal dysplasia
characterized by inflammation of the corneae (keratitis), skin scales, and deafness.
Bart RS, Pumphrey RE: Knuckle pads, leukonychia and deafness. A
dominantly inherited syndrome. N Engl J Med
Ramer JC, Vasily DB, Ladda RL: Familial leukonychia, knuckle pads, hearing
loss and palmoplantar hyperkeratosis: an additional family with
Bart-Pumphrey syndrome. J Med Genet
Richard G, Brown N, Ishida-Yamamoto A, et al. Expanding the phenotypic spectrum
of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in
GJB2. J Invest Dermatol