MASTOCYTOSIS – WHAT IS IT?
Mastocytosis is a rare disorder characterized by accumulation of pathologic mast cells in the tissues (most often skin, bone marrow, and gastrointestinal tract), and accompanied by symptoms of mast cell activation and degranulation. Mastocytosis can affect both children and adults. More than 90 % of adults and 80 % of children with mastocytosis are detected to have the somatic gain of function mutations in the c-kit. The diagnosis of mastocytosis is established by the presence of characteristic maculopapular skin lesions and confirmed by skin biopsy. Tryptase and systemic investigation should be carried out. Diagnosis of systemic mastocytosis is based on World Health Organization (WHO) criteria. According to WHO, mastocytosis is classified into categories, with distinct clinicopathologic and prognostic features that guide the therapy. In this article, current practical knowledge regarding diagnosing and treating mastocytosis is presented.