Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.
Mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to uncontrolled cell growth and the formation of noncancerous and cancerous tumors. Researchers have not determined how FLCN mutations increase the risk of lung problems, such as pneumothorax.
Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family.
Mitsuko Furuya is in Sapporo, Japan. Furuya is rated as an Elite expert by MediFind in the treatment of Birt-Hogg-Dube Syndrome. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Birt-Hogg-Dube Syndrome, Collapsed Lung, Renal Cell Carcinoma RCC, and Chromophobe Renal Cell Carcinoma.
Paul Johannesma is in Amsterdam, Netherlands. Johannesma is rated as an Elite expert by MediFind in the treatment of Birt-Hogg-Dube Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Birt-Hogg-Dube Syndrome, Collapsed Lung, Infantile Pneumothorax, and Renal Cell Carcinoma RCC.
Elizabeth Henske is a Pulmonary Medicine specialist and an Oncologist in Boston, Massachusetts. Dr. Henske has been practicing medicine for over 37 years and is rated as an Elite doctor by MediFind in the treatment of Birt-Hogg-Dube Syndrome. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Lymphangioleiomyomatosis, Birt-Hogg-Dube Syndrome, Collapsed Lung, and Prostate Cancer. She is licensed to treat patients in Massachusetts. Dr. Henske is currently accepting new patients.
Published Date: January 01, 2013Published By: National Institutes of Health