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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Birt-Hogg-Dube syndrome


Other Names for this Disease
  • BHD
  • BHD syndrome
  • Birt Hogg Dube syndrome
  • Fibrofolliculomas with trichodiscomas and acrochordons
  • Hornstein-Knickenberg syndrome
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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 is a rare complex disorder that affects the skin and lungs and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. Affected individuals are also predisposed to developing benign cysts in the lungs, pneumothorax, and cancerous or noncancerous tumors of the kidneys.[1][2]Birt Hogg Dube syndrome is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.[1]
Last updated: 3/16/2010

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