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Open Access Articles- Top Results for Bart%E2%80%93Pumphrey syndrome

Bart–Pumphrey syndrome

Bart–Pumphrey syndrome
Classification and external resources
OMIM 149200
NCI Bart–Pumphrey syndrome
Patient UK Bart–Pumphrey syndrome

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 and proximal and distal interphalangeal joints.[1]

It was characterized in 1967.[2]

It can be associated with GJB2.[3]

See also

References

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ Bart RS, Pumphrey RE (January 1967). "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome". N. Engl. J. Med. 276 (4): 202–7. PMID 6015974. doi:10.1056/NEJM196701262760403. 
  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. PMID 15482471. doi:10.1111/j.0022-202X.2004.23470.x. 


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