75. Mastocytosis

  1. Alan D. Irvine MD, FRCPI, FRCP4,5,
  2. Peter H. Hoeger MD6,7 and
  3. Albert C. Yan MD, FAAP, FAAD8,9
  1. Dirk Van Gysel MD, PhD1,
  2. Ron H. N. van Schaik2 and
  3. Arnold P. Oranje MD, PhD3

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch75

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

Van Gysel, D., van Schaik, R. H. N. and Oranje, A. P. (2011) Mastocytosis, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch75

Editor Information

  1. 4

    Trinity College, Dublin, Ireland

  2. 5

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 6

    University of Hamburg, Hamburg, Germany

  4. 7

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 8

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 9

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. 1

    Department of Pediatrics, O.L. Vrouw Hospital, Aalst, Belgium

  2. 2

    Department of Clinical Chemistry Erasmus MC Rotterdam, The Netherlands

  3. 3

    Department of Pediatrics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • c-kit mutation;
  • mast cell;
  • mastocytosis;
  • SCF (stem cell factor);
  • CD117;
  • systemic mastocytosis;
  • cutaneous mastocytosis

Summary

Mastocytosis is a heterogeneous disease characterized by an abnormal accumulation of mast cells (MC) in the skin and/or internal organs. The clinical signs and symptoms are produced by the functional effects of mast cell-derived mediators and the anatomical distribution of the mast cells that produced and released them. Three major categories can be defined:

cutaneous mastocytosis (CM), systemic mastocytosis (SM) and an extremely rare third major category of localized extracutaneous MC proliferations (either presenting as a malignancy or as a benign tumor). Most pediatric patients suffer from CM. Accumulating evidences confirm the physiopathological key role of c-kit mutations, especially in SM.