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

Authors

Brian Covello, HCA HealthcareFollow
Sean Kaufman, HCA HealthcareFollow
Elizabeth Whittington, HCA HealthcareFollow
Orlando Enrizo, HCA HealthcareFollow

Division

East Florida

Hospital

Aventura Hospital and Medical Center

Document Type

Case Report

Publication Date

3-26-2021

Keywords

Birt-Hogg-Dube syndrome, Bilateral renal oncocytomas

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diagnosis | Radiology

Abstract

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

Recommended Citation

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