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Bart–Pumphrey syndrome

From Wikipedia, the free encyclopedia
Bart–Pumphrey syndrome
Bart–Pumphrey syndrome is inherited in an autosomal dominant fashion.
SpecialtyDermatology

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

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References

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  1. ^ 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.
  2. ^ 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.
  3. ^ 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.
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