Birt-Hogg-Dube syndrome

Birt-Hogg-Dube syndrome (BHD) is a hereditary condition associated with multiple non-cancerous (benign) skin tumors, lung cysts, and an increased risk of kidney lesions (cysts, benign tumors, and kidney cancer.) Symptoms of BHD generally do not appear until adulthood.

The most common skin tumors in BHD are called fibrofolliculomas. These are pale or flesh-colored tumors that occur in the hair follicles. Other skin tumors associated with BHD are trichodiscomas.  Researchers are looking into whether, rather than being different tumors, fibrofolliculomas and trichodiscomas may be different stages of a single process. The lung cysts in BHD are commonly at the bases of the lung and are not associated with smoking. In general, lung cysts do not cause problems with breathing and are currently not believed to increase the risk of lung cancer. However, cysts can rupture. Therefore, there is an increased risk of spontaneous pneumothorax (collapsed lung), which is air leaking out of the lungs and into the chest cavity. Many different types of kidney tumor types (histologies) have been seen in people with BHD, with the most common forms being hybrid oncocytic tumors (HOTs), chromophobe, and oncocytoma. In BHD, it is common for tumors to be on both kidneys (called bilateral) with tumors found in more than 1 place (called multifocal). When observed, these tumors tend to grow slowly, but they are likely to spread if left untreated.

BHD is a genetic condition. This means that the cancer risk and other features of BHD can be passed from generation to generation in a family. A mutation (change) in a specific gene called FLCN, which creates a protein called folliculin, is causes nearly all cases of BHD. FLCN is currently thought to be a tumor suppressor gene. A tumor suppressor gene’s natural role in the body is to make proteins that prevent tumor formation by limiting cell growth. Research is ongoing to learn more about BHD.

BHD is suspected when a person has skin tumors (fibrofolliculomas) associated with BHD, especially if that person or their family members have a history of lung cysts, spontaneous pneumothorax, or kidney cancer. BHD is also suspected in families with multiple cases of kidney cancer, particularly if family members have had different types of kidney cancer or specific types of kidney cancer known to be associated with BHD. Genetic testing to look for mutations in the FLCN gene is available for people suspected of having BHD.

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Journal of Orthopedic Oncology.