Bart–Pumphrey syndrome
| Bart–Pumphrey syndrome | |
|---|---|
 | |
| Bart–Pumphrey syndrome is inherited in an autosomal dominant fashion. | |
| Specialty | Dermatology |
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] It was characterized in 1967.[2] It can be associated with GJB2.[3]
See also
[edit]References
[edit]- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ 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. PMID 6015974.
- ^ 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. PMID 15482471.