Mastocytosis
NORD gratefully acknowledges Kristina Bundra, NORD Editorial Intern, and Cem Akin, MD, PhD, Associate Professor of Medicine,Harvard Medical School, Director, Mastocytosis Center, Brigham and Women's Hospital, for assistance in the preparation of this report.
Synonyms of Mastocytosis
- systemic mast cell disease
- systemic mastocytosis
Subdivisions of Mastocytosis
- aggressive systemic mastocytosis
- cutaneous mastocytosis
- extracutaneous mastocytoma
- indolent systemic mastocytosis
- mast cell leukemia
- mast cell sarcoma
- systemic mastocytosis with clonal hematologic non-mast cell lineage disease
General Discussion
Mastocytosis is a rare disorder characterized by abnormal accumulations of mast cells in the skin, bone marrow, and internal organs (liver, spleen, gastrointestinal tract and lymph nodes). Cases beginning during adulthood tend to be chronic and involve the bone marrow in addition to the skin, whereas, during childhood, the condition is often marked by skin manifestations with minimal to no internal organ involvement and can often resolve during puberty. In most adult patients, mastocytosis tends to be persistent, and may progress into a more advanced category in a minority of patients. Mastocytosis can be classified to a specific type depending on the patient’s symptoms and overall presentation.
Investigational Therapies
Resources
RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease. For more information, visit www.rareconnect.org.
NORD Member Organizations
Other Organizations
Years Published
1987, 1990, 1992, 1994, 1996, 1998, 1999, 2002, 2004, 2007, 2014
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