Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder

Internal Medicine Journal
J BoscoG J Stewart

Abstract

Erdheim-Chester disease is a multi-system histiocyte disorder characterised by histological xanthogranulomatous inflammation. We report a 67-year-old man who had fatal multi-systemic Erdheim-Chester disease involvement, including retroperitoneal fibrosis, dilated cardiomyopathy and bone pain that was diagnosed late in its course and was refractory to interferon-alfa. A pathogenic BRAF(V600E) mutation, identified after death in this patient, provides insights into pathogenesis and opens potential lines of treatment.

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Citations

Apr 19, 2017·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Balan Louis GasparAshish Bhalla
Aug 30, 2019·American Journal of Ophthalmology Case Reports·Francesco Pichi
Jun 4, 2021·Survey of Ophthalmology·Menelaos KanakisIlias Georgalas

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