Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Birt-Hogg-Dube syndrome alone.
Find your community on the free RareGuru App.Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
Source: GARD Last updated on 10-01-20
GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the diagnosis and management of patients with specific inherited conditions. Click on the link to view the article on Birt Hogg Dube syndrome.
Last updated on 05-01-20
While there is no consensus on clinical surveillance for patients with Birt Hogg Dube syndrome, GeneReviews provides provisional recommendations which may be utilized until a consensus conference is conducted. To access this information, click here and scroll down to the 'Surveillance' section.
Last updated on 05-01-20
At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended management of the lung cysts. Lung cysts related to BHD have not been associated with long-term disability or fatality. The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax).
If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan. Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions. It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking.
Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).
Last updated on 05-01-20
BHD Foundation provides information on previous and upcoming conferences related to this condition.
Last updated on 04-27-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.