Mastocytosis: a disease of the hematopoietic stem cell

Mastocytosis is an unusual clonal disease of the hematopoietic stem cell.

This article is based on a selective literature search and on the authors' clinical and pathological experience.

The clinical manifestations of mastocytosis range from cutaneous mastocytosis, a common, prognostically favorable presentation, to mast cell leukemia, a rare, life-threatening disease. The mediator-induced symptoms usually respond well to H1 antihistamines. Therapeutic standards for cytoreduction in the progressive, systemic forms of mastocytosis are still lacking.

Because some of the manifestations of mastocytosis are nonspecific and can be mimicked by other diseases, there is a risk of two types of diagnostic error: Mastocytosis may remain undiagnosed when it is actually present, or it may be diagnosed even though morphological and molecular findings rule out mastocytosis. Well-defined criteria should be used to differentiate mastocytosis from other diseases with a similar clinical presentation.