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Does the BRAFV600E mutation herald a new treatment era for Erdheim–Chester disease? A case‐based review of a rare and difficult to diagnose disorder

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 BRAFV600E mutation, identified after death in this patient, provides insights into pathogenesis and opens potential lines of treatment.