Other Names for this Disease
- BHD syndrome
- Fibrofolliculomas with trichodiscomas and acrochordons
- Hornstein-Knickenberg syndrome
- Birt Hogg Dube syndrome
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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.Birt-Hogg-Dube syndrome (
Last updated: 7/1/2015
- Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). 01/2013; http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome. Accessed 7/1/2015.
- 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.
- Toro JR. Birt-Hogg-Dubé Syndrome. GeneReviews. 08/07/2014; http://www.ncbi.nlm.nih.gov/books/NBK1522/. Accessed 7/1/2015.
- 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.
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- 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.
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