++
Inherited syndrome with knuckle pads, leukonychia, and
sensorineural deafness.
++
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 276:202, 1967.
[PubMed: 6015974]
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 31:68, 1994.
[PubMed: 8151643]
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 123:856, 2004.
[PubMed: 15482471]