Other Symptoms

As we learn more about BHD syndrome, we are also learning more about other health issues that may possibly run in BHD families. However, at the moment, it appears that these issues are incidental. That means that they are not currently associated with BHD syndrome and are not included in the list of known BHD symptoms.

This section mentions some conditions which have been reported to occur in BHD-affected individuals.

Colon polyps and colon cancer

A few articles in medical journals have suggested that (benign) colon polyps and colon cancer are associated with BHD syndrome. Subsequent research in 2002 and 2007 of BHD families found no evidence to support this. However, a more recent study in 2010 has suggested that there is a link and therefore research is inconclusive at this point.

Other cancers

People with BHD syndrome have had the following cancers, tumours and lesions (usually it is a report of only a single individual for each type), and to date, it does not appear that these conditions are caused by the BHD gene mutation. If you have had one of these conditions and have no symptoms of BHD, there is no reason to think that you have BHD syndrome.  This list is thorough but may not be exhaustive:


  1. Lung cancer
  2. Tonsillar cancer
  3. Thyroid cancer
  4. Breast cancer
  5. Skin cancer (melanoma and non-melanoma)
  6. Dermatofibrosarcoma protuberans
  7. Leiomyosarcoma (cutaneous)
  8. Gastric cancer
  9. Bladder cancer
  10. Uterine cancer
  11. Prostate cancer
  12. Leg sarcoma
  13. Hodgkin’s lymphoma
  14. Squamous cell carcinoma

Benign tumours:

  1. Oncocytic pituitary adenoma
  2. Astrocytoma
  3. Pheochromocytomas and other adrenal tumours
  4. Neurilemmomas
  5. Rhabdomyoma
  6. Collagenoma
  7. Cutaneous neurothekeoma
  8. Cutaneous leiomyoma
  9. Lipoma and angiolipoma
  10. Focal-cutaneous mucinosis
  11. Multinodular goiter
  12. Neural tissue tumour
  13. Trichoblastoma
  14. Connective-tissue nevus
  15. Parotid gland adenoma and oncocytoma (salivary gland)


  1. Ovarian cysts
  2. Chorioretinal lesions



  • Birt-Hogg-Dubé Syndrome. Toro JR. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2006 Feb 27 [updated 2008 Sep 9].



Publication date: September 2012
Review date: September 2015