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Laboratory of Immunobiology [B. Z., J. T.], Data Management Services [W. G. A.], Intramural Research Support Program [L. S.], Science Application International Corporation, National Cancer Institute-Frederick, Frederick, Maryland 21702; Dermatology Branch [M. T.], Laboratory of Pathology [M. J. M., S. M. H., P. D.], Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics [G. G.], and Urologic Oncology Branch [W. M. L., C. P. P., M. W.], Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20894; Diagnostic Radiology, Clinical Center, NIH, Bethesda, Maryland 20894 [P. C.]; Digestive Diseases Branch, National Institute of Diabetes, and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20894 [F. G.]; Departments of Pediatrics and Child Health and of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada [C. G.]; and Technical University Munich, D-81675 Munich, Germany [G. W.]
The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal and colonic neoplasms and spontaneous pneumothorax, but the risk of developing these disorders is unknown. We identified risk factors for renal tumors and spontaneous pneumothorax in 98 patients affected with the Birt-Hogg-Dubé syndrome, in 13 Birt-Hogg-Dubé haplotype carriers, and in 112 unaffected family members. Development of renal tumors was strongly associated with the Birt-Hogg-Dubé syndrome and age. The odds ratio for renal tumor in BHD-affected family members adjusted for age was 6.9 (95% confidence interval, 1.5–31.6) and 
9.0 for the other risk factors considered. Chromophobe renal carcinoma, an uncommon type of renal cancer, was the predominant type of renal cancer found. Spontaneous pneumothorax was also strongly associated with the Birt-Hogg-Dubé syndrome and age. The odds ratio for pneumothorax in BHD-affected individuals, adjusted for age, was 50.3 (95% confidence interval, 6.4–392), and about 32 times higher adjusting for the other risk variables. Colon cancer and colon polyps were not related to the Birt-Hogg-Dubé syndrome. The Birt-Hogg-Dubé syndrome confers an increased risk for the development of renal tumors and spontaneous pneumothorax. We found no increase in risk for the development of colon polyps or colon carcinomas.
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