Bart-Pumphrey syndrome (BPS), also known as knuckle pads, leukonychia, and sensorineural deafness, is a rare autosomal dominant disorder that has only been described in a few families.

Skin findings in BPS include leukonychia, knuckle pads, and palmoplantar keratoderma (PPK). Leukonychia is often complete and involves all nails, although rarely partial leukonychia may occur. Leukonychia may improve with age. Patients generally develop hyperkeratotic lesions (knuckle pads and keratoderma) during childhood and adolescence. Knuckle pads in BPS are well-defined, hyperkeratotic papules over the dorsal small joints of the hands and feet. PPK, when present, is generally diffuse and striate with accentuation in skin creases.

Hearing loss in BPS is often present at birth (prelingual). Hearing loss is most often sensorineural due to cochlear defects. There have been reports of mixed or conductive hearing loss as well.

BPS is due to mutations in the gap junction β2 gene (GJB2), which encodes connexin 26. Other diseases involving GJB2 mutations include keratitis-ichthyosis-deafness (KID) syndrome and Vohwinkel syndrome, as well as hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, and deafness with Clouston-like phenotype.

Clinical overlap between syndromes, including BPS, KID syndrome, and Vohwinkel syndrome, may occur. Moreover, within a family with BPS, there may be variable phenotypic expressivity among individuals.