There are several different types of skin lesion, which can be caused by different diseases. It is important that you see a dermatologist who will be able to tell you exactly what type (or types) of skin lesion you have. Making an appointment with a dermatologist differs in different countries. In the UK it is your GP who will make a referral to the dermatologist.
To diagnose what type of skin lesion you have, your dermatologist will have to take a biopsy of one or more of your skin bumps, and look at the cells under a microscope.
A shave biopsy is less invasive, as it only shaves off the outermost layers of skin. However, sometimes this isn’t enough to correctly identify fibrofolliculomas, and can lead to a wrong diagnosis.
If you think you have BHD, you should ask your doctor to perform a skin-punch biopsy instead. Punch biopsies remove more layers of skin – much like a small hole punch – but are better for diagnosing larger skin lesions like fibrofolliculomas.
If this happens, it is very important to get a genetic test, as this is the only way to find out for certain if you have BHD. Skin symptoms are often the first symptom that BHD patients notice, so getting a correct diagnosis before lung or kidney symptoms appear is important.
Your dermatologist will also be able to discuss treatment options with you.
Publication date: December 2014
Review date: May 2021