130. Incontinentia Pigmenti

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. Dian Donnai

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch130

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

Donnai, D. (2011) Incontinentia Pigmenti, 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.ch130

Editor Information

  1. 2

    Trinity College, Dublin, Ireland

  2. 3

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

  3. 4

    University of Hamburg, Hamburg, Germany

  4. 5

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 6

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

  6. 7

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

Author Information

  1. Department of Genetic Medicine, University of Manchester and Central Manchester University Hospitals, NHS Foundation Trust, Manchester, UK

Publication History

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

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384



  • alopecia;
  • Blaschko's lines;
  • eye abnormalities;
  • hypodontia;
  • NEMO gene;
  • pigmentation;
  • vesicles;
  • X-linked dominant


Incontinentia pigmenti is a multisystem disorder affecting predominantly females, although rare male cases are described. The inheritance pattern is X-linked dominant; female offspring of affected women have a 50% risk of being affected and there is an increased risk of miscarriage due to loss of affected male conceptions. Cutaneous manifestations are in Blaschko's lines and occur in four stages: vesicular, verrucous, hyperpigmented and atrophic. There may also be a variety of dental, ocular, neurological and developmental abnormalities. The majority of affected women have a recurrent deletion in the NEMO gene which encodes an essential factor in a cellular pathway which responds to inflammatory and apoptotic stimuli. Molecular diagnosis is available and if the mutation is confirmed, prenatal diagnosis is an option. Early diagnosis of the disorder is important for clinical management, particularly because of the risk of visual problems which are amenable to treatment if detected in time.