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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.

Your Question

How should patients with Birt Hogg Dube syndrome be monitored (i.e. for kidney tumors)?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Birt-Hogg-Dube syndrome?

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.[1][2][3]
Last updated: 7/1/2015

Where can I learn about the management of Birt Hogg Dube syndrome?

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: 11/16/2009

Where can I obtain information regarding the protocol for monitoring patients with Birt Hogg Dube syndrome?

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.[3] To access this information, click here and scroll down to the 'Surveillance' section.
Last updated: 11/16/2009

References
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.