Case of BRAF mutant Erdheim-Chester disease presenting with multisystem involvement: A case report

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Nang Hseng Kyio
Tugce Kıran
Ali Eser
Guven Cetin
Cumali Karatoprak


Objective: Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis of unknown etiology. It is a multisystemic disease that can involve bones, skin, brain, retroperitoneum, cardiovascular system, endocrine system, and lungs. Diagnosis is made by clinical findings, imaging results, and histopathological examination. BRAFV600E (B-rapidly accelerated fibrosarcoma gene) mutation is found in more than half of the cases. When Erdheim-Chester disease is not considered the differential diagnosis, it is not possible to diagnose and treat. In this case report, an Erdheim-Chester case with symptomatic, multisystem involvement, BRAFV600E mutation, and initiated vemurafenib treatment is presented in the light of literature data.


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Kyio, N. H., Kıran, T. ., Eser, A. ., Cetin, G. ., & Karatoprak, C. . (2021). Case of BRAF mutant Erdheim-Chester disease presenting with multisystem involvement: A case report . Medical Science and Discovery, 8(2), 136–139.
Case Reports
Received 2021-01-16
Accepted 2021-02-01
Published 2021-02-06


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