Abstract
Systemic mastocytosis is a heterogenous disorder characterized by abnormal growth and accumulation of abnormal mast cells in one or more organs. Mast cells are derived from CD34+/ KIT+ pluripotent hematopoietic cells in the bone marrow.
Most adult mastocytosis patients carry gain of function C-kit receptor mutations, most commonly D816V in the tyrosine kinase domain. The clinical phenotype of systemic mastocytosis is variable.
Many of patients are suffering from urticaria pigmentosa, followed by the flushing, cramping, abdominal pain, diarrhea, bone pain and hepatosplenomegaly. Most adult patients have systemic disease (a condition generally confirmed by bone marrow biopsy).
The natural history of systemic mastocytosis ranges from indolent forms to very aggressive subtypes.