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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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Overview
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]
References
- Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=birthoggdubesyndrome. Accessed November 16, 2009.
- Schmidt LS. Birt-Hogg-Dube Syndrome. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Birt-Hogg-Dube%20Syndrome. Accessed November 16, 2009.
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General Information
- Genetics Home Reference (GHR) contains information on Birt-Hogg-Dube syndrome. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Birt-Hogg-Dube syndrome. Click on the link to go to OMIM and review these resources.