A Case of Bilateral Renal Oncocytomas in the Setting of Birt-Hogg-Dube Syndrome
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.
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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