Bart Pumphrey syndrome
| Bart Pumphrey Syndrome | |
|---|---|
| Script error: No such module "InfoboxImage". | |
| Specialty | Genetics, Dermatology |
| Symptoms | Nail abnormalities, Leukoplakia, Sensorineural hearing loss |
| Usual onset | Childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Risk factors | Family history |
| Diagnostic method | Clinical examination, Genetic testing |
| Treatment | Symptomatic treatment |
| Prognosis | Variable |
| Frequency | Rare |
Bart Pumphrey Syndrome is a rare genetic disorder characterized by a combination of nail abnormalities, leukoplakia, and sensorineural hearing loss. It is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
Presentation[edit | edit source]
Individuals with Bart Pumphrey Syndrome typically present with:
- Nail abnormalities: These may include onychodystrophy, nail bed changes, and pachyonychia.
- Leukoplakia: This refers to white patches that can appear on the mucous membranes, particularly in the oral cavity.
- Sensorineural hearing loss: This type of hearing loss is due to damage to the inner ear or the auditory nerve.
Genetics[edit | edit source]
Bart Pumphrey Syndrome is caused by mutations in the GJB2 gene, which encodes the connexin 26 protein. This protein is crucial for the function of gap junctions in the skin and inner ear. Mutations in this gene disrupt normal cell communication, leading to the symptoms observed in the syndrome.
Diagnosis[edit | edit source]
Diagnosis of Bart Pumphrey Syndrome is based on clinical examination and confirmed through genetic testing. A detailed family history can also aid in diagnosis, given the autosomal dominant inheritance pattern.
Management[edit | edit source]
There is no cure for Bart Pumphrey Syndrome, and treatment is primarily symptomatic. Management strategies may include:
- Regular monitoring and care of nail abnormalities.
- Surveillance and management of leukoplakia to prevent potential complications.
- Hearing aids or other assistive devices for sensorineural hearing loss.
Prognosis[edit | edit source]
The prognosis for individuals with Bart Pumphrey Syndrome varies. While the condition is lifelong, the severity of symptoms can differ significantly among affected individuals.
Also see[edit | edit source]
Dermatology and Rheumatologic diseases A - Z
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Contributors: Prab R. Tumpati, MD
