Birt-Hogg-Dubé syndrome (also known as BHD) is a hereditary condition named after the three Canadian doctors that first described it in 1977 – Arthur R. Birt, Georgina R. Hogg, and William J. Dubé (1).
At first, BHD was thought to be a skin condition after skin lesions were found on the faces and necks of several members of an extended family. It is now known that BHD can also cause lung cysts, collapsed lungs, and kidney cancer. BHD mainly affects adults with lung cysts and skin lesions usually appearing in a person’s 20s and 30s and kidney cancer occurring at an average age of 50.
There is no typical BHD patient. Someone with BHD may get one, two or all three of the symptoms, and no two people will be the same – even if they’re from the same family. At the moment there is no way of predicting who will get which symptoms, but roughly (2):
Patients can help researchers and clinicians learn more about which symptoms individual patients are at risk from by registering with the MyVHL: Patient Natural History Study.
BHD syndrome is caused by mutations in the Folliculin gene, and only a genetic test can find mutations. Having the symptoms of BHD suggests that you might have BHD, but there are other diseases that can also cause these symptoms, so the only way to definitely diagnose BHD is by gene sequencing.
BHD is a rare disease with only roughly 600 reported families worldwide, however many researchers believe it is under diagnosed (3). Because BHD is so rare, many doctors have not heard of it, so there are probably many more families with this disease that haven’t been diagnosed.
Researchers are currently investigating the function of the Folliculin protein and how a mutation in this gene causes the symptoms of BHD. The ultimate aim of scientific research is to develop treatments to prevent or cure BHD syndrome.
The ‘What is BHD?‘ pages for researchers provides a more detailed clinical description of the syndrome and the state of current scientific research. Although it has been written for doctors and researchers, it is freely available for anyone to download.
1. Birt AR, Hogg GR, Dubé WJ. Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons. Arch Dermatol [Internet]. 1977 Dec 1 [cited 2021 May 10];113(12):1674–7. Available from: https://jamanetwork.com/journals/jamadermatology/fullarticle/538004
2. Schmidt LS, Linehan WM. FLCN: The causative gene for Birt-Hogg-Dubé syndrome. Vol. 640, Gene. Elsevier B.V.; 2018. p. 28–42.
3. Birt-Hogg-Dubé Syndrome – NORD (National Organization for Rare Disorders) [Internet]. [cited 2021 May 10]. Available from: https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
Publication date: December 2014
Review date: May 2021