Bart-Pumphrey syndrome

Bart-Pumphrey syndrome, also called palmoplantar keratoderma with knuckle pads, leukonychia and deafness, is a skin condition marked by thickened patches of skin, or hyperkeratoses, forming knuckle pads over the finger and hand joints, along with white discoloration of the nails and hearing loss. It is inherited in an autosomal dominant pattern, so a single copy of the mutated gene is enough to cause it, and an affected parent has a 50 percent chance of passing it to each child; it is associated with mutations in the GJB2 gene, which encodes a connexin protein involved in communication between cells. The syndrome was formally described in 1967 by researchers Bart and Pumphrey as a dominantly inherited condition featuring the triad of knuckle pads, white nails and deafness, and it is classified within dermatology because it presents primarily as a skin condition of the palms, soles and knuckles.