Bart–Pumphrey syndrome
Bart–Pumphrey syndrome is a rare genetic disorder characterized by leukonychia, knuckle pads, hearing loss, and palmoplantar keratoderma. The syndrome is named after the two doctors, R. Bart and R. Pumphrey, who first described the condition in 1960.
Pronunciation
Bart–Pumphrey syndrome: /bɑːrt pʌmfriː sɪndroʊm/
Etymology
The syndrome is named after the two doctors, R. Bart and R. Pumphrey, who first described the condition in 1960.
Symptoms
The main symptoms of Bart–Pumphrey syndrome include:
- Leukonychia: This is a condition where the nails turn white or appear to have white spots.
- Knuckle pads: These are thickened skin over the knuckles.
- Hearing loss: This is a common symptom of Bart–Pumphrey syndrome, and it can range from mild to severe.
- Palmoplantar keratoderma: This is a condition where the skin on the palms of the hands and the soles of the feet becomes thick and rough.
Causes
Bart–Pumphrey syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called connexin 26, which is found in many tissues in the body, including the skin and inner ear.
Treatment
There is currently no cure for Bart–Pumphrey syndrome. Treatment is focused on managing the symptoms and may include hearing aids for hearing loss and skin care for palmoplantar keratoderma.
See also
External links
- Medical encyclopedia article on Bart–Pumphrey syndrome
- Wikipedia's article - Bart–Pumphrey syndrome
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