Skin Symptoms

Benign (non-cancerous) skin tumours are one of the confirmed symptoms of BHD syndrome. Every individual diagnosed with BHD syndrome is different in terms of when, how many and what type of skin symptoms appear. Not everyone who is diagnosed with BHD will be affected by skin symptoms.

Fibrofolliculomas are the most common skin symptom, but there have been reports of families affected by BHD syndrome who show Other skin symptoms.

BHD skin lesions may also be referred to as:

BHD skin lesions: fibrofolliculomas. Courtesy of Urologic Oncology Branch, National Cancer Institute, NIH.

  • Neoplasmia (literally “new growths”, a general name for abnormal tissue masses or tumours).
  • Hamartomas (abnormal formations in any tissue including the skin).
  • Papules (small white bumps on the skin).

The large number of different skin lesions you may read about could lead to some confusion, as many of the descriptions may sound similar. It is impossible to determine which kind of skin lesion you have without consulting a dermatologist, as you may need diagnostic tests for a reliable identification.

Fibrofolliculomas. Courtesy of Dr Derek Lim, University of Birmingham.

If your dermatologist tells you that you have one or more of the skin conditions described in this section, it is possible that you may have BHD syndrome. However, the best way to know for sure whether or not you have BHD is by having a genetic test. If your dermatologist believes you may have the skin lesions that are associated with BHD syndrome, it is very important to follow up with a genetic test because BHD syndrome also puts you at risk of malignant Kidney tumours.

To begin with, this section describes Fibrofolliculomas, the most common skin condition associated with BHD syndrome, as well as Other skin symptoms also seen in BHD-diagnosed individuals. Finally, Other syndromes with skin conditions are briefly described.



Publication date: January 2012
Review date: January 2015