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  • A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn\'t usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years.
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