We would like to comment on a case of Birt-Hogg-Dubé (BHD) syndrome reported in this issue by M. Schreuer et al, JBR-BTR, 2011, 94: 29-31. Individuals with this rare autosomal dominant inherited disorder – named after three dermatologists who described the syndrome in 1977 – are susceptible to develop 1) noncancerous tumors of the hair follicles, 2) renal tumors (predominantly chromophobe renal cell carcinoma) and 3) thin-walled cystic lung lesions. The diagnosis of BHD is based on these clinical findings and confirmed by molecular genetic testing. We would like to take the opportunity to emphasize the unique position of the radiologist to suggest this syndrome in patients imaged and diagnosed with both multiple solid renal tumors and cystic pulmonary lesions.
How to Cite:
D’Hauwe R, Lerut E, De Wever L, Oyen R, Claus F. Letter to the editor. Journal of the Belgian Society of Radiology. 2011;94(1):32–4. DOI: http://doi.org/10.5334/jbr-btr.483