Medicine:Bart–Pumphrey syndrome
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| Bart–Pumphrey syndrome | |
|---|---|
| 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
- Camisa disease
- List of cutaneous conditions
- Bart syndrome
- Palmoplantar keratoderma
References
- ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome". N. Engl. J. Med. 276 (4): 202–7. January 1967. doi:10.1056/NEJM196701262760403. PMID 6015974.
- ↑ "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. November 2004. doi:10.1111/j.0022-202X.2004.23470.x. PMID 15482471.
External links
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