Open AccessIndolent renal involvement with BRAF V600E mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations
Author(s) -
Vanhomwegen Charlotte,
Mestrez Fabienne,
Faverly Daniel,
Holz Serge,
Taylor Stephen,
Rossi Camelia
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4683
Subject(s) - erdheim–chester disease , medicine , context (archaeology) , rare disease , disease , radiological weapon , presentation (obstetrics) , radiology , pathology , histiocytosis , paleontology , biology
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.