Bart–Pumphrey syndrome
| Bart–Pumphrey syndrome | |
|---|---|
| [[File:|250px|alt=|]] | |
| Synonyms | |
| Pronounce | |
| Field | dermatology |
| Symptoms | |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | |
| Risks | |
| Diagnosis | |
| Differential diagnosis | |
| Prevention | |
| Treatment | |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness"<ref name="Bolognia" />) is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphalangeal joints.<ref name="Bolognia">{{{last}}},
Rapini, Ronald P., Dermatology: 2-Volume Set, St. Louis:Mosby, 2007, ISBN 978-1-4160-2999-1,</ref>
It was characterized in 1967.<ref name="pmid6015974">,
Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome, N. Engl. J. Med., Vol. 276(Issue: 4), pp. 202–7, DOI: 10.1056/NEJM196701262760403, PMID: 6015974,</ref>
It can be associated with GJB2.<ref name="pmid15482471">,
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2, J. Invest. Dermatol., Vol. 123(Issue: 5), pp. 856–63, DOI: 10.1111/j.0022-202X.2004.23470.x, PMID: 15482471,</ref>
See also[edit]
References[edit]
External links[edit]
| Diseases of ion channels | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
See also: ion channels
|
This article is a dermatology stub. You can help WikiMD by expanding it!
-
Bart–Pumphrey syndrome
Ad. Transform your health with W8MD Weight Loss, Sleep & MedSpa
Tired of being overweight?
Special offer:
Budget GLP-1 weight loss medications
- Semaglutide starting from $29.99/week and up with insurance for visit of $59.99 and up per week self pay.
- Tirzepatide starting from $45.00/week and up (dose dependent) or $69.99/week and up self pay
✔ Same-week appointments, evenings & weekends
Learn more:
- GLP-1 weight loss clinic NYC
- W8MD's NYC medical weight loss
- W8MD Philadelphia GLP-1 shots
- Philadelphia GLP-1 injections
- Affordable GLP-1 shots NYC
- Budget GLP-1 shots
|
WikiMD Medical Encyclopedia |
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 Content may be inaccurate or outdated and should not be used for diagnosis or treatment.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
