Cited 1 times since 2014 (0.1 per year) source: EuropePMC Case reports in medicine, Volume 2014, 20 3 2014, Pages 618675 Bilateral renal tumour as indicator for birt-hogg-dubé syndrome. Johannesma PC, van Moorselaar RJ, Horenblas S, van der Kolk LE, Thunnissen E, van Waesberghe JH, Menko FH, Postmus PE
Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.
