Indolent renal involvement with BRAFV600E mutation: Erdheim-Chester, a rare disease with a wide spectrum of clinical manifestations.
Charlotte VanhomwegenFabienne MestrezDaniel FaverlySerge HolzStephen TaylorCamelia RossiPublished in: Clinical case reports (2021)
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 BRAF V600E 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.