Discovering rare diseases: Marked efficacy of vemurafenib in suprasellar Erdheim-Chester disease

Erdheim-Chester disease (ECD) is a rare non–Langerhans cell histiocytosis characterized by the accumulation of foamy CD68+CD1a− histiocytes. Tissue infiltration preferentially affects long bones and retroperitoneal and peri-aortic spaces, but almost any organ or system can be affected. Cardiac and neurologic involvements are associated with significantly higher levels of mortality and morbidity.

Neurology 2014