Bart–Pumphrey syndrome

Bart–Pumphrey syndrome ; ; ; ;
Specialty	dermatology ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;

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]

References[edit]

↑ ^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..January 1967;276(4)
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..November 2004;123(5)
856–63.doi:10.1111/j.0022-202X.2004.23470.x.PMID:15482471.

External links[edit]

Stub icon

This dermatology article is a stub. You can help WikiMD by expanding the page.

Error creating thumbnail:

Bart–Pumphrey syndrome

[Bolognia-1] 1.0 ^1.1 {{{last}}}, Rapini, Ronald P., Dermatology: 2-Volume Set, St. Louis:Mosby, 2007, ISBN 978-1-4160-2999-1,

[pmid6015974-2] "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome".N. Engl. J. Med..January 1967;276(4)
202–7.doi:10.1056/NEJM196701262760403.PMID:6015974.

[pmid15482471-3] "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2".J. Invest. Dermatol..November 2004;123(5)
856–63.doi:10.1111/j.0022-202X.2004.23470.x.PMID:15482471.

[1]

[2]

[3]

Bart–Pumphrey syndrome

See also[edit]

References[edit]

External links[edit]