Molecular background, clinical features and management of pediatric mastocytosis: Status 2021

Magdalena Lange, Karin Hartmann, Melody C. Carter, Frank Siebenhaar, Ivan Alvarez‐twose, Inés Torrado, Knut Brockow, Joanna Renke, Ninela Irga‐jaworska, Katarzyna Plata‐nazar, Hanna Ługowska‐umer, Justyna Czarny, Anna Belloni Fortina, Francesca Caroppo, Roman J. Nowicki, Bogusław Nedoszytko, Marek Niedoszytko, Peter Valent

Research output: Contribution to journalReview articlepeer-review

37 Scopus citations

Abstract

Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self‐limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small‐sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator‐related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto‐injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow‐up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.

Original languageEnglish
Article number2586
Pages (from-to)1-24
Number of pages24
JournalInternational Journal of Molecular Sciences
Volume22
Issue number5
DOIs
StatePublished - 1 Mar 2021

Keywords

  • Diagnosis
  • KIT mutation
  • Pediatric mastocytosis
  • Treatment
  • Tryptase

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