Bart–Pumphrey syndrome explained

Bart–Pumphrey syndrome
Field:	Dermatology

Bart–Pumphrey syndrome, also known as palmoplantar keratoderma with knuckle pads and leukonychia and deafness) 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

• Camisa disease
• Bart syndrome
• Palmoplantar keratoderma

Notes and References

1. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
2. Bart RS, Pumphrey RE . Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome . N. Engl. J. Med. . 276 . 4 . 202–7 . January 1967 . 6015974 . 10.1056/NEJM196701262760403.
3. Richard G, Brown N, Ishida-Yamamoto A, Krol A . 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 . November 2004 . 15482471 . 10.1111/j.0022-202X.2004.23470.x . free .