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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mastocytosis


Other Names for this Disease
  • Mast cell disease
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Overview

Mastocytosis is a condition that occurs when mast cells accumulate in skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. The signs and symptoms vary based on which part(s) of the body are affected. There are two main forms of mastocytosis: cutaneous and systemic. 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.[1][2] It is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation; however, it can rarely affect more than one family member.[3][4] Treatment is based on the signs and symptoms present in each person.[5]

For more specific information regarding the symptoms, diagnosis, treatment and/or prognosis of systemic mastocytosis and cutaneous mastocytosis, please click on the link.
Last updated: 6/18/2015

References

  1. Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. UpToDate. September 2014; Accessed 2/22/2015.
  2. Mastocytosis. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/441/viewAbstract.
  3. Fett NM, Teng J, Longley BJ. Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. Am J Dermatopathol. February 2013; 35(1):113-116.
  4. de Melo Campos P, Machado-Neto JA, Scopim-Ribeiro R, Visconte V, Tabarroki A, Duarte AS, Barra FF, Vassalo J, Rogers HJ, Lorand-Metze I, Tiu RV, Costa FF, Olalla Saad ST, Traina F. Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. Leuk Res. October 2014; 38(10):1245-1251.
  5. Daniel J Hogan, MD. Mastocytosis. Medscape Reference. February 2015; http://emedicine.medscape.com/article/1057932-overview.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Mastocytosis.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Mast cell disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.