Indolent renal involvement with BRAFV600E mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations

Abstract

Abstract We present the case of a patient with three‐year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAFV600E mutation confirmed the diagnosis of Erdheim‐Chester disease (ECD). A review of current knowledge regarding diagnosis, clinical assessment, management, and treatment of ECD is also presented.

Keywords

• BRAFV600E
• Erdheim‐Chester disease
• histiocytosis
• retroperitoneum
• review