As we learn more about BHD, we are also learning more about other health issues that BHD families have. At the moment, it appears that the majority of these are just incidental. That means that they are not related to BHD and should not be included in the known BHD symptom list:

1. Skin lesions ( mostly fibrofolliculomas)
2. Lung cysts & collapsed lungs
3. Kidney tumors

This section will mention some of the most frequently addressed health issues that some have thought could be part of BHD.

Skin symptoms

There does appear to be a connection between BHD and angiofibroma and/or perifollicular fibroma.
See the skin symptoms page for more information on known BHD skin lesions. It looks like BHD is associated with several kinds of hartomas.

Aside from these symptoms, the research does not seem to definitely prove that any other symptoms are caused by the FLCN gene mutation of BHD.

Cancer

Colon polyps and colon cancer

Several articles in medical journals have suggested in the past that one manifestation of BHD was colon polyps, perhaps colon cancer. (Rongioletti et al., 1989 and Haimowitz et al., 1997)

Later analysis of data for a large number of families with BHD (Zbar et al. 2002) found no evidence to support this and concluded that there is no connection between BHD and colon tumors. Analysis of additional information by Leter et al. in 2007 did not find a connection between BHD and colon cancer.

The general consensus is therefore that people with BHD ,with the FLCN gene mutation, are not at risk for colorectal cancer.

As of 2008, there are a few doctors looking at a possible connection between BHD and colon neoplasms in several different places in the world because they know of BHD families with multiple cases of colon polyps. This does not necessarily mean that they will be able to support a connection; more data is needed.

We are beginning to see some research about other health issues faced by people who have BHD. Scientists have gathered data to see if there may be a link between the syndrome and these symptoms.

Other cancers

It has been proven that people who have certain kinds of primary cancers ( a first cancer) may be more prone to get a different type of cancer. This seems to be true of some thyroid and testicular cancer patients.

In 2003, Alexakisa et al. speculate that genetics may make one person more liable to get a second cancer of a different type than the first. There is not enough data to tell us if this is the case for those with the Birt-Hogg-Dubé syndrome.

People with BHD have had the following cancers; to date, it does not appear that these cancers are caused by the BHD gene mutation. If you have had one of these cancers and have no symptoms of BHD, there is no reason to think that you have the Birt-Hogg-Dubé syndrome. This list may not be complete:

1. Uterine Cancer
2. Squamous Cell Carcinoma (head & neck, and cervix)
3. Thyroid Cancer
4. Colon Cancer
5. Hodgkin’s Disease
6. Breast Cancer
7. Rhabdomyoma
8. Prostrate Cancer
9. (Adrenal mass)
10. Melanoma
11. Leiomyosarcoma (cutaneous)
12. Leiomyoma (cutaneous)
13. (Parotid gland oncocytomas were also reported.)

Sources

1. Risk of Renal and Colonic Neoplasms and Spontaneous Pneumothorax in the Birt-Hogg-Dubé Syndrome Berton Zbar, W. Gregory Alvord, Gladys Glenn, Maria Turner, Christian P. Pavlovich, Laura Schmidt, McClellan Walther, Peter Choyke, Gregor Weirich, Stephen M. Hewitt, Paul Duray, Fathia Gabril, Cheryl Greenberg, Maria J. Merino, Jorge Toro and W. Marston Linehan http://cebp.aacrjournals.org/cgi/content/abstract/11/4/393?ck=nck
2. Birt-Hogg-Dube´ Syndrome: Clinical and Genetic Studies of 20 Families Edward M. Leter1,9, A. Karijn Koopmans2,9, Johan J.P. Gille1, Theo A.M. van Os3, Gabrie¨ lle G. Vittoz1, Eric F.L. David4, Elisabeth H. Jaspars5, Pieter E. Postmus6, R. Jeroen A. van Moorselaar7, Mikael E. Craanen8, Theo M. Starink2 and Fred H. Menko1
3. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé Syndrome: A new series of 50 families and a review of published reports Jorge R Toro, Ming-Hui Wei, Gladys Glenn, Michael Weinreich, Ousmane Toure, Cathy Vocke, Maria L Turner, Maria Merino, Peter Pinto, Seth Steinberg, Laura Schmidt and W Marston Linehan doi:10.1136/jmg.2007.054304 published online 30 Jan 2008; J. Med. Genet.
4. The Risk of Second Primary Malignancies up to Three Decades after the Treatment of Differentiated Thyroid Cancer Aaron. P. Brown, Jergin Chen, Ying J. Hitchcock, Aniko Szabo, Dennis C. Shrieve and Jonathan. D. Tward Departments of Radiation Oncology (A.P.B., J.C., Y.J.H., D.C.S., J.D.T.) and Oncological Sciences (A.S.), Huntsman Cancer Hospital, University of Utah, Salt Lake City, Utah 84112
5. Renal Cell Carcinoma Following Testicular Cancer: Case Report and Literature Review Nathan Lawrentschuk1, Dennis Gyomber1 and Damien M Bolton International Urology and Nephrology Publisher Springer Netherlands ISSN 0301-1623 (Print) 1573-2584 (Online) Issue Volume 38, Number 1 / February, 2006 DOI 10.1007/s11255-005-8573-4
6. Double Resection for Patients with Pancreatic Cancer and a Second Primary Renal Cell Cancer N. Alexakisa, L. Bosonneta, S. Connora, I. Ellisb, R. Suttona, F. Campbellc, M. Hughesd, C. Garveyd, J.P. Neoptolemosa University of Liverpool, Royal Liverpool University Hospital, Liverpool, UK Dig Surg 2003;20:428-432 (DOI: 10.1159/000072711).