Mastocytosis in Children: What to Do?

The diagnosis of mastocytosis in children can often readily be made on history and clinical examination. Histology with immunohistochemistry and, if available, c-KIT mutation analysis are necessary in the presence of atypical skin lesions. Measurement of serum tryptase and rarely bone marrow biopsy on strict indication are necessary for diagnosing childhood mastocytosis in the absence of skin lesions and for distinguishing cutaneous mastocytosis (CM) from systemic mastocytosis (SM). Therapy is directed at control of the mediator-related symptoms in patients with indolent disease.