A Case of Bilateral Renal Oncocytomas in the Setting of Birt-Hogg-Dube Syndrome
Aventura Hospital and Medical Center
Birt-Hogg-Dube syndrome, Bilateral renal oncocytomas
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diagnosis | Radiology
Birt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by pulmonary cysts, renal tumors, and dermal lesions. This syndrome results from a mutation in the gene folliculin, located on chromosome 17p11.2. Herein, a case is described in which the presence of bilateral renal oncocytomas led to the diagnosis of Birt-Hogg-Dube syndrome via an interdisciplinary effort by radiology, pathology, and primary care medicine. No radiographic features alone are sufficient to confirm the diagnosis of Birt-Hogg-Dube. A high index of suspicion must be maintained by both the pathologist and radiologist in the appropriate clinical setting.
Publisher or Conference
Radiology Case Reports
Covello B, Kaufman S, Whittington E, Enrizo O. A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome. Radiol Case Rep. 2021;16(6):1249-1254. https://doi.org/10.1016/j.radcr.2021.02.058