Death from mast cell leukemia: a young patient with longstanding cutaneous mastocytosis evolving into fatal mast cell leukemia.

[cutaneous mastocytosis]

Mastocytosis is a broad term used for a group of disorders characterized by accumulation of mast cells in the skin with or without extracutaneous involvement . The clinical spectrum of the disease varies from only cutaneous lesions to highly aggressive systemic involvement such as mast cell leukemia . Mastocytosis can present from birth to adulthood . In children , mastocytosis is usually benign , and there is a good chance of spontaneous regression at puberty , unlike adult-onset disease , which is generally systemic and more severe . Moreover , individuals with systemic mastocytosis may be at risk of developing hematologic malignancies . We describe a girl who presented to us with a solitary mastocytoma at age 5 and later developed maculopapular cutaneous mastocytosis . At age 23 , after an episode of anaphylactic shock , a bone marrow examination revealed mast cell leukemia . She ultimately died despite aggressive chemotherapy and bone marrow transplantation .