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birt-hogg-dubé syndrome

Birt-Hogg-Dubé Syndrome

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What is Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé syndrome (BHD) is a hereditary condition associated with multiple noncancerous (benign) skin tumors, lung cysts, and an increased risk of both benign kidney 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 called trichodiscomas and acrochordons. Acrochordons are also known as skin tags, and trichodiscomas are a growth of normal-appearing tissue that builds up into a noncancerous tumor. The lung cysts in BHD do not cause problems with breathing and do not increase the risk of lung cancer. There is an increased risk of spontaneous pneumothorax, which is air leaking out of the lungs and into the chest. Spontaneous pneumothorax may result in a collapsed lung. Many different types of kidney tumors have been seen in people with BHD. Multiple tumors may occur on both kidneys. Tumors tend to grow slowly, but they are likely to develop into kidney cancer.

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 called trichodiscomas and acrochordons. Acrochordons are also known as skin tags, and trichodiscomas are a growth of normal-appearing tissue that builds up into a noncancerous tumor. The lung cysts in BHD do not cause problems with breathing and do not increase the risk of lung cancer. There is an increased risk of spontaneous pneumothorax, which is air leaking out of the lungs and into the chest. Spontaneous pneumothorax may result in a collapsed lung. Many different types of kidney tumors have been seen in people with BHD. Multiple tumors may occur on both kidneys. Tumors tend to grow slowly, but they are likely to develop into kidney cancer.

What causes BHD?

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 specific gene called FLCN, which creates a protein called folliculin, is believed to cause most 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.

How is BHD inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. BHD follows an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.

Having the mutation in one copy of the gene is enough to cause BHD. However, current research shows that a person with BHD must have mutations in both copies of the FLCN gene in order for a tumor to appear. A person can be born with one mutated gene (the autosomal dominant inheritance pattern described above) and then acquire a mutation to the second copy of the FLCN gene at some point during his or her lifetime. Then, with both copies of the FLCN gene altered, the body loses its ability to suppress tumor growth.

How common is BHD?

BHD is considered to be rare. The number of people and families who have BHD is unknown. To date, about 60 families worldwide have been reported to have BHD.

How is BHD diagnosed?

BHD is suspected when a person has skin tumors associated with BHD, especially if that person or his or her 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. Genetic testing to look for mutations in the FLCN gene is available for people suspected of having BHD.

What are the estimated cancer risks associated with BHD?

BHD is associated with an increased risk for kidney cancer, particularly the chromophobe renal cell carcinoma (RCC) type of kidney cancer. The estimated risk for kidney cancer in people with BHD is around 15%. The risk of kidney cancer is significantly increased in people who smoke. Individuals with BHD or at risk for BHD should avoid smoking. It is not known if people with BHD have an increased risk of other specific types of cancer.

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