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Pediatric Mastocytosis: A Review of the Literature
Abstract
Mastocytosis has a bimodal distribution often presenting in children from birth to 2 years of age and in those over the age of 15. Pediatric mastocytosis is due to the effects of mast-cell degranulation enzymes such as histamine and tryptase causing the presentation of pruritis, flushing, vesicles, abdominal and bone pain, or headache. Three different forms of mastocytosis can occur: urticaria pigmentosa, diffuse cutaneous, and solitary mastocytoma. Systemic symptoms are typically a result of mast-cell mediator release but do not prove systemic mast-cell hyperplasia. In this review, we present several research studies related to pediatric mast-cell disorders, and discuss several cases of pediatric mastocytosis, acute myeloid leukemia, pathophysiology, genetic studies, and treatment.
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“Auto‐activating KIT mutations are a shared feature of different types of mastocytosis. 156 Most common is a substituting point mutation in codon 186 (D186V), which is found in 80% of adult patients. 157 Although less abundant in these patients, this mutation still accounts for almost 40% of pediatric cases, and of the remaining pediatric patients, another 40% carry activating mutations in other”
From Mast cell ontogeny: From fetal development to life‐long health and disease (2023) · cites this paper as [156]
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Mast cell ontogeny: From fetal development to life‐long health and disease
Chia, S. L., Kapoor, S., Carvalho, C., Bajénoff, M., & Gentek, R. (2023) · Immunological Reviews · doi:10.1111/imr.13191 · Cited by 60
Metadata
- Authors
- Frieri, M., & Quershi, M.
- Affiliations
- Nassau University Medical Center
- Venue
- Pediatric Allergy, Immunology, and Pulmonology
- Publisher
- SAGE Publications
- Published
- 2013-12
- Volume
- 26
- Issue
- 4
- Pages
- 175-180
- ISSN
- 2151-321X
- 2151-3228
- Cited by
- 43
- References
- 1
- Language
- en
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- Frieri, M., & Quershi, M. (2013). Pediatric Mastocytosis: A Review of the Literature. Pediatric Allergy, Immunology, and Pulmonology. https://doi.org/10.1089/ped.2013.0275
