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

par Vanhomwegen, Charlotte ;Mestrez, Fabienne;Faverly, Daniel;Holz, Serge;Taylor, Stephen ;Rossi, Camelia
Référence Clinical Case Reports, 9, 8, page (e04683)
Publication Publié, 2021-08-01

Article révisé par les pairs

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Résumé :

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.