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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Mast cell disease
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Mastocytosis is a disorder that can occur in both children and adults. It is caused by the presence of too many mast cells in the body. Mast cells contain substances such as histamine that regulate allergic reactions. Signs and symptoms of mastocytosis may include musculoskeletal pain, abdominal discomfort, nausea, vomiting, ulcers, diarrhea, and skin lesions. Treatment may include medications such as antihistamines (to prevent the effect of mast cell histamine) and anticholinergics (to relieve intestinal cramping).[1]

There are two broad categories of mastocytosis, cutaneous and systemic.[1] Cutaneous mastocytosis only affects the skin and is usually diagnosed in children. Systemic mastocytosis affects more than one part of the body and is usually diagnosed in adults. GARD provides additional information on cutaneous mastocytosis and systemic mastocytosis.
Last updated: 1/16/2013


  1. Mastocytosis. National Institute of Allergy and Infectious Diseases. January 2011; Accessed 5/15/2013.
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Basic Information

In Depth Information

  • Medscape Reference has articles on two types of mastocytosis, systemic mastocytosis and cutaneous mastocytosis. You may need to register to view the information online, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mastocytosis. Click on the link to view a sample search on this topic.