Rare Diseases Symptoms Automatic Extraction

New insights into the pathogenesis, diagnosis, and management of mastocytosis.

[cutaneous mastocytosis]

This review describes developments in understanding normal mast cell function and genetic changes that predispose to malignant transformation to mastocytosis. Most mastocytosis cases are associated with somatically acquired activating mutations in the KIT receptor. The role these mutations play in the development of mastocytosis is discussed. Mastocytosis is classified into cutaneous mastocytosis and systemic mastocytosis. The classification of mastocytosis and clinical presentation of each variant is detailed in this report. Progress has been made in developing drugs that target the wild-type and mutated KIT receptor, and these and other new therapeutic strategies for the treatment of mastocytosis are reviewed.