Erdheim-Chester disease

Abstract

Erdheim-Chester disease is a rare inflammatory myeloid clonal disease which is classified into histiocytoses. It is characterized by excessive production and accumulation of foamy histiocy-tes and Touton giant cells in various tissues and organs. Foamy histiocytes and Touton giant cells produce proinflammatory cytokines and chemokines and contain somatic mutations in genes activating the MAPK/ERK signaling pathway, but also in genes activating the PI3K/AKT signaling pathway. BRAFV600E , cytokine blockers or cladribine is used for the treatment.ais the most common somatic mutation. Furthermore, somatic mutations in the MAP2K1, KRAS, NRAS, ARAF or PIK3CA genes are abundant. Erdheim-Chester disease is a multisystemic disease in which any organ can be affected, especially the long bones of the lower extremities, but also the cardiovascular system, retroperitoneum, endocrine sys-tem, central nervous system, lungs, skin or orbit. The diagnosis is difficult because of the various manifestations of this disease. The disease occurs mainly in adults and is more common in men than in women. Targeted treatment by kinase inhibitors, interferon.