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Birt-Hogg-Dube syndrome


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

Overview

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

References

  1. Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). 01/2013; http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome. Accessed 7/1/2015.
  2. Schmidt LS. Birt-Hogg-Dube Syndrome. National Organization for Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/. Accessed 7/5/2014.
  3. Toro JR. Birt-Hogg-Dubé Syndrome. GeneReviews. 08/07/2014; http://www.ncbi.nlm.nih.gov/books/NBK1522/. Accessed 7/1/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Birt-Hogg-Dube syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Birt-Hogg-Dube syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BHD
  • BHD syndrome
  • Birt Hogg Dube syndrome
  • Birt-Hogg-Dubé syndrome
  • Fibrofolliculomas with trichodiscomas and acrochordons
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.