Indolent renal involvement with BRAFV600E mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
oleh: Charlotte Vanhomwegen, Fabienne Mestrez, Daniel Faverly, Serge Holz, Stephen Taylor, Camelia Rossi
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2021-08-01 |
Deskripsi
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.