Diagnosis

Visiting a dermatologist is often the first step towards a BHD diagnosis.

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.

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 your dermatologist tells you that you have fibrofolliculomas, trichodiscomas or any of the other possible skin symptoms of BHD, it is possible that you may have BHD syndrome.

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: December 2017