Birt-Hogg-Dube syndrome (BHD) is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. It is characterized by multiple skin tumors, which are non-cancerous, on the face, neck and upper chest. These skin lesions appear at the age of 20-30 and grow large over time.
HOW IS BIRT-HOGG-DUBE SYNDROME DIAGNOSED?
The diagnosis involves a thorough physical examination along with details of medical history of the patient. The doctor may suggest many other tests for the detection which are: • Biopsy • Blood Tests • Colonoscopy • CT Scans • Echocardiography • Endoscopy • Genetic Testing • Liver Function Tests • Magnetic Resonance Imaging • Mammography • X-Rays • Ultrasound
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