Blau syndrome
Blau Syndrome (pronounced: blau sin-drome) is a rare genetic disorder characterized by granulomatous arthritis, uveitis, and dermatitis. First described by the American pediatrician Edward Blau in 1985, the syndrome is an autosomal dominant disease that is caused by mutations in the NOD2 gene.
Etymology
The syndrome is named after Edward Blau, the American pediatrician who first described the condition in 1985. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".
Symptoms
The symptoms of Blau syndrome typically appear in early childhood and include:
- Granulomatous arthritis: This is a type of arthritis that causes inflammation in the joints. It is characterized by the formation of granulomas, which are small areas of inflammation.
- Uveitis: This is inflammation of the uvea, the middle layer of the eye. It can cause redness, pain, and blurred vision.
- Dermatitis: This is inflammation of the skin, which can cause redness, itching, and sometimes blisters.
Diagnosis
Diagnosis of Blau syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing a mutation in the NOD2 gene.
Treatment
There is currently no cure for Blau syndrome. Treatment is aimed at managing the symptoms and may include medications to reduce inflammation and pain, and physical therapy to help maintain joint function.
See also
References
External links
- Medical encyclopedia article on Blau syndrome
- Wikipedia's article - Blau syndrome
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