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Diseases

Genetic and Rare Diseases Information Center (GARD)

Birt-Hogg-Dube syndrome


Other Names for this Disease
  • BHD syndrome
  • Fibrofolliculomas with trichodiscomas and acrochordons
  • BHD
  • Hornstein-Knickenberg syndrome
  • Birt Hogg Dube syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might lung cysts associated with Birt-Hogg-Dube syndrome be treated?

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.[1]  There is no recommended management of the lung cysts.  Lung cysts related to BHD have not been associated with long-term disability or fatality.[2]  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.[1]  Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions.[2]  It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking.[2][3]

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).[3]
Last updated: 6/27/2014

References
  1. Toro JR. Birt-Hogg-Dubé Syndrome. GeneReviews. 08/07/2014; http://www.ncbi.nlm.nih.gov/books/NBK1522/. Accessed 7/1/2015.
  2. Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. American Journal of Respiratory and Critical Care Medicine. 2007; 175(10):1044-1053. Available at http://www.ncbi.nlm.nih.gov/pubmed/17322109. Accessed 6/27/2014.
  3. Menko FH, van Steensel, MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, O Hansen TV, Solly J, Maher, ER. Birt-Hogg-Dubé syndrome: diagnosis and management. The Lancet Oncology. 2009; 10(12):1199-1206. http://www.bhdsyndrome.org/wp-content/uploads/2009/12/Menko-et-al-20091.pdf. Accessed 6/27/2014.


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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Birt-Hogg-Dube syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • BHD syndrome
  • Fibrofolliculomas with trichodiscomas and acrochordons
  • BHD
  • Hornstein-Knickenberg syndrome
  • Birt Hogg Dube syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.