Do I have BHD?

The only way to know if you definitely have BHD is to have a Genetic Test. However, you can look at the following list to see if you have any of the symptoms that characterise BHD syndrome. If you think you do, you should talk to a doctor or genetic counsellor about pursuing a diagnosis.

It is worth remembering that even if you do have one of these symptoms, it does not mean that you have Birt-Hogg-Dubé syndrome.

Family history

  • Has anyone in your family already been diagnosed with BHD syndrome or does a family member have symptoms that characterise BHD?


  • Do you have any whitish skin bumps on your face, earlobes, neck, upper back or upper chest? (See photos)
  • Did you first notice these when you were in your 20’s or 30’s?
  • Does anyone in your family have fibrofolliculomas?

Spontaneous pneumothorax

  • Have you or anyone in your family had a collapsed lung?
  • Do you have chest pains and feel short of breath? (See Lung symptoms)

Kidney cancer

  • Do you have, or have you had in the past, one or more kidney cysts or tumours on both kidneys?


Since BHD syndrome is a rare condition, it is possible, even if you have some of the described symptoms, that you do not have BHD. The only definite way of knowing is to have a Genetic Test.