Bart-Pumphrey syndrome
= = Bart-Pumphrey Syndrome ==
Bart-Pumphrey syndrome is a rare genetic disorder characterized by a combination of skin and nail abnormalities, as well as hearing loss. It is inherited in an autosomal dominant pattern.
Clinical Features[edit | edit source]
Bart-Pumphrey syndrome presents with a distinct set of clinical features:
- Leukonychia: This refers to white discoloration of the nails, which is a hallmark of the syndrome.
- Palmoplantar keratoderma: Thickening of the skin on the palms of the hands and soles of the feet.
- Knuckle pads: These are thickened areas of skin over the knuckles.
- Hearing loss: Sensorineural hearing loss is commonly associated with this syndrome.
Genetic Basis[edit | edit source]
The syndrome is caused by mutations in the GJB2 gene, which encodes the protein connexin 26. This protein is crucial for cell communication in the skin and inner ear.
Diagnosis[edit | edit source]
Diagnosis of Bart-Pumphrey syndrome is based on clinical evaluation and genetic testing. The presence of characteristic skin and nail changes, along with hearing loss, can prompt genetic testing for mutations in the GJB2 gene.
Management[edit | edit source]
Management of Bart-Pumphrey syndrome is symptomatic and supportive:
- Regular monitoring and management of hearing loss, potentially with hearing aids.
- Dermatological treatments for skin and nail abnormalities.
Epidemiology[edit | edit source]
Bart-Pumphrey syndrome is extremely rare, with only a few families reported in the medical literature. Its prevalence is not well established.
History[edit | edit source]
The syndrome was first described by Bart and Pumphrey in 1967, who identified the combination of symptoms in affected families.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Bart-Pumphrey syndrome is a rare disease.
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