The only way to know for sure if you have BHD is to have a gene test. However, you can look at the following list to see if you have symptoms that may mean you should talk to a doctor or genetic counselor about pursuing a diagnosis.

There is no certainty that if you have one of these symptoms you do have the Birt-Hogg-Dubé Syndrome.

Family History

Has anyone in your family already been diagnosed with BHD Syndrome or does a family member have the same symptoms as you?

Fibrofolliculomas

1. Do you have any whitish skin bumps on your face, earlobes, neck, upper back or upper chest? (See photos on the Skin Symptoms page.)
2. Did you first notice these when you were about 30 or 40?
3. Does anyone in your family have fibrofolliculomas?

Other Skin Symptoms

• Do you have, or does anyone in your family have skin lesions, bumps, or skin growths?

The description of this symptom is very vague because there are numerous types of skin growths, and people without BHD may have many of them – so it is going to be difficult to find out whether or not they are part of the BHD syndrome. You can read about these other skin conditions on the Skin Symptoms page.

Spontaneous Pneumothorax

• Have you or anyone in your family had a collapsed lung?
• Has anyone in your extended family had multiple collapsed lungs?

Kidney cancer

• Do you have one or more kidney tumors or cysts on both kidneys?
• Do you have multifocal kidney tumors or cysts (more than one tumor or cyst on a kidney?)

Age of onset

• Did these symptoms first become evident after the age of 30 or so?

Since BHD syndrome is a rare condition it might be possible for you to have some of the described symptoms but not have BHD at all. The only real way of knowing is to go for a genetic diagnosis.