Bart-Pumphrey syndrome

Bart-Pumphrey syndrome is a rare genetic condition that primarily affects the skin, nails, and hearing. The condition is known by several names that reference its main features, such as knuckle pads, leukonychia (white spots on the nails), sensorineural deafness, and palmoplantar keratoderma (thick skin on the palms and soles). These signs may appear together in people with the syndrome, although the exact pattern and severity can vary. Because Bart-Pumphrey syndrome is rare, detailed information about its overall presentation is limited. Ongoing research is helping to clarify its features and the connections between the genetic changes and clinical signs observed in affected individuals.

Common symptoms in people with Bart-Pumphrey syndrome include thickened skin on the knuckles (knuckle pads), white spots on the nails (leukonychia), and a type of hearing loss known as sensorineural deafness. Some individuals may also experience thickening of the skin on the palms and soles (palmoplantar keratoderma).

Bart-Pumphrey syndrome is linked to changes or mutations in the GJB2 gene. This gene plays an important role in the functioning of the skin and hearing. While the exact way these genetic changes cause the various signs of the syndrome is not fully understood, genetic alterations in GJB2 are associated with the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.