128. The Neurofibromatoses

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Amy Theos MD1,
  2. Kevin P. Boyd MD1 and
  3. Bruce R. Korf MD, PhD2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch128

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

Theos, A., Boyd, K. P. and Korf, B. R. (2011) The Neurofibromatoses, 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.ch128

Editor Information

  1. 3

    Trinity College, Dublin, Ireland

  2. 4

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

  3. 5

    University of Hamburg, Hamburg, Germany

  4. 6

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 7

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

  6. 8

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

Author Information

  1. 1

    Department of Dermatology, University of Alabama at Birmingham, Birmingham, AL, USA

  2. 2

    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA

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:

  • multiple café-au-lait macules;
  • neurofibromas;
  • neurofibromatosis type 1;
  • neurofibromatosis type 2;
  • NF1-like syndrome;
  • schwannomatosis

Summary

The neurofibromatoses encompass three distinct inherited disorders: neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis. These disorders share the propensity to develop multiple benign tumours of the peripheral and/or central nervous system, but are distinguished by specific clinical features, distinct genetic mutations, natural history and management. In this chapter, neurofibromatosis type 1 is reviewed in detail and the others are discussed briefly, with emphasis on how they may present to the paediatric dermatologist.