Mastocytosis

Mastocytosis is a heterogeneous disease characterized by an abnormal accumulation of mast cells (MC) in the skin and/or internal organs. The clinical signs and symptoms are produced by the functional effects of mast cell-derived mediators and the anatomical distribution of the mast cells that produced and released them. Three major categories can be defined: cutaneous mastocytosis (CM), systemic mastocytosis (SM) and an extremely rare third major category of localized extracutaneous MC proliferations (either presenting as a malignancy or as a benign tumor). Most pediatric patients suffer from CM. Accumulating evidences confirm the physiopathological key role of c-kit mutations, especially in SM.

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