Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome (pronounced: burt-hog-doo-bay syndrome) is a rare genetic disorder that affects the skin and lungs, and increases the risk of certain types of tumors. The syndrome is named after the three scientists who first described it: Arthur R. Birt, Georgina R. Hogg, and W. James Dube.
Etymology
The syndrome is named after Arthur R. Birt, Georgina R. Hogg, and W. James Dube, who first described the condition in 1977. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence."
Symptoms
The symptoms of Birt-Hogg-Dube syndrome can vary widely, but often include skin abnormalities, lung disease, and kidney tumors. Skin abnormalities are often the first noticeable sign of Birt-Hogg-Dube syndrome. These can include fibrofolliculomas, which are small, white or flesh-colored bumps that usually appear on the face and neck.
Causes
Birt-Hogg-Dube syndrome is caused by mutations in the FLCN gene. This gene provides instructions for making a protein called folliculin, which is thought to play a role in regulating cell growth and division.
Diagnosis
Diagnosis of Birt-Hogg-Dube syndrome is often based on the presence of characteristic clinical features. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for Birt-Hogg-Dube syndrome. Treatment is focused on managing symptoms and preventing complications.
Related Terms
External links
- Medical encyclopedia article on Birt-Hogg-Dube syndrome
- Wikipedia's article - Birt-Hogg-Dube syndrome
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