Skin and BHD

Fibrofolliculomas and trichodiscomas are raised or dome-shaped white/ skin-coloured bumps. They vary in size but are normally around 2-4 mm long. They may look like pimples but do not go away with time. You should not be able to “pop” them like a pimple. Fibrofolliculomas and trichodiscomas are only found in BHD. Some doctors think that they are simply different versions of the same type of skin bump.

This image of fibrofolliculomas is from Figure 1, Menko et al, 2009.

Skin tags are soft skin-coloured growths on the skin. They can also occur in people who do not have BHD.  

Skin bumps are the most common symptom of BHD. Around 9 in every 10 people with BHD get them. However, they seem to be less common in the Asian population with around 3 in every 10 people getting skin bumps.

There are several different types of skin bumps, which can be caused by different conditions. It is important that you see a skin doctor who will be able to tell you exactly what type (or types) of skin bumps you have. Making an appointment with a skin doctor differs by country. In the UK, it is your GP who will make a referral.

 To diagnose what type of skin bump you have, your skin doctor 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 doctor tells you that you have fibrofolliculomas or trichodiscomas you may have BHD. You therefore should have genetic testing.