Bart–Pumphrey syndrome
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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]
- ↑ 1.0 1.1 {{{last}}}, Rapini, Ronald P., Dermatology: 2-Volume Set, St. Louis:Mosby, 2007, ISBN 978-1-4160-2999-1,
- ↑ "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome".N. Engl. J. Med..January 1967;276(4)
- 202–7.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..November 2004;123(5)
- 856–63.doi:10.1111/j.0022-202X.2004.23470.x.PMID:15482471.
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Bart–Pumphrey syndrome
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