Birt-Hogg-Dube syndrome is a rare, genetic disorder that affects the skin and lungs. It increases the risk of certain types of tumors in infected person. This syndrome is caused by mutations in the Folliculin gene and characterised by various non cancerous or benign skin tumors, particularly on the face, neck and upper chest. It increases the chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity that may lead to the collapse of a lung.It also increases risk of developing cancerous or noncancerous kidney tumors.
HOW IS BIRT-HOGG-DUBE SYNDROME DIAGNOSED?
A specialist in genetics and internal medicine diagnoses by clinical findings but is definitively diagnosed by molecular genetic testing. CT scans and ultrasound scans are performed to regularly monitor kidneys
HOW IS BIRT-HOGG-DUBE SYNDROME TREATED?
The fibrofolliculomas can be removed surgically. The renal and pulmonary symptoms are managed preventively. Family members are advised not to smoke