Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness"[1]) is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphalangeal joints.[1]
^ abRapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN1-4160-2999-0.
^Bart RS, Pumphrey RE (January 1967). "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome". N. Engl. J. Med. 276 (4): 202–7. doi:10.1056/NEJM196701262760403. PMID6015974.
^Richard G, Brown N, Ishida-Yamamoto A, Krol A (November 2004). "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2". J. Invest. Dermatol. 123 (5): 856–63. doi:10.1111/j.0022-202X.2004.23470.x. PMID15482471.
