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.
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:
- Lung cancer
- Tonsillar cancer
- Thyroid cancer
- Breast cancer
- Skin cancer (melanoma and non-melanoma)
- Dermatofibrosarcoma protuberans
- Leiomyosarcoma (cutaneous)
- Gastric cancer
- Bladder cancer
- Uterine cancer
- Prostate cancer
- Leg sarcoma
- Hodgkin’s lymphoma
- Squamous cell carcinoma
- Oncocytic pituitary adenoma
- Pheochromocytomas and other adrenal tumours
- Cutaneous neurothekeoma
- Cutaneous leiomyoma
- Lipoma and angiolipoma
- Focal-cutaneous mucinosis
- Multinodular goiter
- Neural tissue tumour
- Connective-tissue nevus
- Parotid gland adenoma and oncocytoma (salivary gland)
- Ovarian cysts
- Chorioretinal lesions
- Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH. Br J Cancer. 2011 Dec 6;105(12):1912-9.
- Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families. Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH. J Invest Dermatol. 2008 Jan;128(1):45-9.
- Birt-Hogg-Dubé syndrome: diagnosis and management. Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium. Lancet Oncol. 2009 Dec; 10(12):1199-206.
- Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER. J Med Genet. 2010;47(6):385-90.
- Multiple neurilemmomas in Birt-Hogg-Dubé syndrome: case report. Renfree KJ, Lawless KL. J Hand Surg Am. 2012 Apr;37(4):792-4. Epub 2012 Feb 9.
- Birt-Hogg-Dubé syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. Schulz T, Hartschuh W. J Cutan Pathol. 1999 Jan;26(1):55-61.
- BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé Syndrome: A new series of 50 families and a review of published reports. Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM. J Med Genet. 2008 Jun;45(6):321-31.
- 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].
- Risk of Renal and Colonic Neoplasms and Spontaneous Pneumothorax in the Birt-Hogg-Dubé Syndrome. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM. Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):393-400.
Publication date: September 2012
Review date: September 2014