Bart–Pumphrey syndrome
(Redirected from 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
References
- ↑ 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., Vol. 276(Issue: 4), pp. 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., Vol. 123(Issue: 5), pp. 856–63, DOI: 10.1111/j.0022-202X.2004.23470.x, PMID: 15482471,
External links
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Bart–Pumphrey syndrome
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