Bart–Pumphrey syndrome

Bart–Pumphrey syndrome
Leukonychia totalis with knuckle pads
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

References

  1. 1 2 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.
Classification


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