Birt-Hogg-Dube SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Birt-Hogg-Dube Syndrome
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.
Bassett Medical Center
Nishant Gupta is a Radiologist practicing medicine in Cooperstown, New York. Dr. Gupta is rated as an Elite provider by MediFind in the treatment of Birt-Hogg-Dube Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Lymphangioleiomyomatosis, Birt-Hogg-Dube Syndrome, Collapsed Lung, Bone Marrow Aspiration, and Gastrostomy.
Pieter Postmus practices practicing medicine in Leiden, Netherlands. Mr. Postmus is rated as an Elite expert by MediFind in the treatment of Birt-Hogg-Dube Syndrome. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Birt-Hogg-Dube Syndrome, Collapsed Lung, Lung Cancer, Non-Small Cell Lung Cancer (NSCLC), and Endoscopy.
Kazuhisa Takahashi practices practicing medicine in Tokyo, Japan. Takahashi is rated as an Elite expert by MediFind in the treatment of Birt-Hogg-Dube Syndrome. They are also highly rated in 55 other conditions, according to our data. Their clinical expertise encompasses Lymphangioleiomyomatosis, Birt-Hogg-Dube Syndrome, Lung Cancer, Spinal Fusion, and Osteotomy.
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Published Date: January 01, 2013
Published By: National Institutes of Health