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]

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

Bart–Pumphrey syndrome

Navigation-> Medicine - Wellness - Encyclopedia - Health topics - Diseases - Drugs - Gray's Anatomy - W8MD diet - Ketogenic diet - Recipes

Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Translate this page: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, தமிழ், తెలుగు, Urdu, ಕನ್ನಡ, Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, বাংলা
European español, Deutsch, français, Greek, português do Brasil, polski, română, русский, Nederlands, norsk, svenska, suomi, Italian
Middle Eastern & African عربى, Turkish, Persian, Hebrew, Afrikaans, isiZulu, Kiswahili,
Other Bulgarian, Hungarian, Czech, Swedish, മലയാളം, मराठी, ਪੰਜਾਬੀ, ગુજરાતી, Portuguese, Ukrainian

[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]