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

Abstract

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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How to Cite
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. https://doi.org/10.36472/msd.v8i2.465
Section
Case Reports

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