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

  • HCA Healthcare

Research output: Contribution to journalArticlepeer-review

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.

Original languageAmerican English
JournalRadiology
StatePublished - Mar 26 2021

Keywords

  • Birt-Hogg-Dube syndrome
  • Bilateral renal oncocytomas

Disciplines

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

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