Erdheim-Chester disease (ECD) is rare form of non-Langerhans cells histiocytosis with multiorgan involvement. Individuals are more frequently affected in their fifth decade and there is a slight male prevalence. Recent studies have demonstrated that ECD patients bare mutations in the proto-oncogene BRAF (and more rarely in other genes involved in the MAPK activation pathway), suggesting a critical role of this pathway in the pathogenesis and a possible clonal origin of the disease. Clinical manifestations are extremely protean and virtually every organ system can be affected.
