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GlossaryBirt–Hogg–Dubé syndrome

rare genetic disorder causing skin tumors, lung cysts, and kidney cancer

Birt–Hogg–Dubé syndrome (BHD syndrome) is a rare genetic disorder characterized by the development of benign skin tumors, lung cysts, and an increased risk of kidney cancer. It is caused by mutations in the FLCN gene, which plays a role in cell growth and division.

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research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies

39 citations, October 2012 in “Familial cancer”

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome

33 citations, May 2015 in “JAMA Dermatology”

Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.

research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis

12 citations, March 2013 in “The American journal of dermatopathology/American journal of dermatopathology”

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene

7 citations, August 2017 in “Genetic testing and molecular biomarkers”

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights

7 citations, September 2013 in “Familial cancer”

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

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