119. Kindler Syndrome

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Anna E. Martinez MBBS, MRCP, MRCPCH1 and
  2. Dawn Siegel MD2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch119

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

Martinez, A. E. and Siegel, D. (2011) Kindler Syndrome, 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.ch119

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

    Paediatric Dermatology, Great Ormond Street Hospital for Children, NHS Trust, London, UK

  2. 2

    Department of Dermatology, Oregon Health and Science University, Portland, OR, 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:

  • blister;
  • FERMT1;
  • focal adhesion;
  • Kindler syndrome;
  • kindlin-1;
  • periodontal disease;
  • photosensitivity;
  • poikiloderma;
  • skin fragility

Summary

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by acral blisters in the neonatal period, followed by trauma-induced blister formation in early childhood, photosensitivity, generalized progressive poikiloderma, diffuse cutaneous atrophy and mucosal inflammation. The gene responsible for Kindler's syndrome is located on chromosome 20p.12.3. The skin fragility in Kindler's syndrome is a result of the loss of expression of an actin-cytoskeleton-associated protein named fermitin family homologue 1 (previously termed KIND-1).