Indolent renal involvement with BRAF V600E  mutation: Erdheim‐Chester, a rare disease with a wide spectrum of clinical manifestations | Zendy

Vanhomwegen Charlotte | Zendy; Mestrez Fabienne | Zendy; Faverly Daniel | Zendy; Holz Serge | Zendy; Taylor Stephen | Zendy; Rossi Camelia | Zendy

Open Access

Indolent 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) - medicine , erdheim–chester disease , context (archaeology) , radiological weapon , disease , radiology , presentation (obstetrics) , 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.

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