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Mastocytosis: classification, diagnosis, and clinical presentation
1Brigham and Women's Hospital, Harvard Medical School, 1 Jimmy Fund Way, Smith Building, Room 626D. Boston, MA 02115, USA.
Allergy and Asthma Proceedings
|April 2, 2004
Summary
Mastocytosis is a group of diseases involving excess mast cells. While there is no cure, treatments manage symptoms, and some childhood cases resolve spontaneously.
Area of Science:
- Hematology
- Dermatology
- Oncology
Background:
- Mastocytosis is characterized by abnormal mast cell proliferation.
- Cutaneous mastocytosis (CM) primarily affects children, localized to the skin.
- Systemic mastocytosis (SM) involves mast cells in skin and/or other organs.
Purpose of the Study:
- To outline the diagnostic criteria for Systemic Mastocytosis.
- To describe the diverse clinical manifestations of CM and SM.
- To review current and future therapeutic strategies for mastocytosis.
Main Methods:
- Diagnosis of SM relies on specific major and minor criteria.
- Clinical presentation assessment includes skin and systemic symptoms.
- Genetic analysis identifies c-kit mutations in mastocytosis.
Main Results:
- SM diagnosis requires specific infiltrates, tryptase levels, or marker expression.
- Symptoms range from pruritus and flushing to syncope and gastrointestinal distress.
- c-kit mutations are implicated in mastocytosis pathogenesis.
Conclusions:
- Mastocytosis lacks a definitive cure, but pediatric CM often resolves at puberty.
- Symptomatic treatment with antihistamines and mast cell stabilizers is effective.
- Emerging therapies include tyrosine kinase inhibitors and bone marrow transplantation.