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Mastocytosis

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to 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

Disorder Subdivisions

  • 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.

Organizations related to Mastocytosis

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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