What is Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by the development of benign skin tumors, lung cysts, and an increased risk of certain types of kidney tumors. It is caused by mutations in the FLCN gene, which is responsible for producing a protein involved in cell growth and division.

Symptoms: Individuals with BHD may develop multiple fibrofolliculomas (small, flesh-colored or reddish-brown bumps) on the face, neck, and upper body. They may also experience lung cysts, which can lead to spontaneous pneumothorax (collapsed lung). Additionally, BHD patients have an elevated risk of developing renal tumors, including chromophobe renal cell carcinoma and oncocytoma.

Diagnosis: Diagnosis of BHD involves a thorough clinical evaluation, examination of skin lesions, imaging tests (such as CT or MRI scans) to detect lung cysts, and genetic testing to identify FLCN gene mutations.

Treatment: There is currently no cure for BHD, but management focuses on monitoring and treating associated symptoms. Skin lesions can be removed surgically, and lung cysts may require intervention if they cause breathing difficulties. Regular renal screenings are essential to detect and manage kidney tumors at an early stage.

Prognosis: The prognosis for individuals with BHD varies depending on the severity of symptoms and the development of associated complications. With appropriate medical care and surveillance, many individuals with BHD can lead relatively normal lives.