135. Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy

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

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch135

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

Emmert, S. (2011) Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy, 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.ch135

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 Dermatology, Venerology and Allergology, Georg - August - University Göttingen, Göttingen, Germany

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:

  • Cockayne syndrome;
  • ichthyosis;
  • neurological disease;
  • nucleotide excision repair;
  • skin cancer;
  • sun sensitivity;
  • transcription;
  • translesional synthesis;
  • trichothiodystrophy;
  • xeroderma pigmentosum

Summary

Nucleotide excision repair is the most versatile DNA repair system in humans. It can repair a variety of bulky DNA damages including ultraviolet light-induced DNA damage. The consequences of defective nucleotide excision repair are demonstrated by the three most common (though still rare) autosomal recessive ucleotide excision repair defective syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Xeroderma pigmentosum patients show severe sun sensitivity and freckling in sun-exposed skin, and develop skin cancers during childhood. Cockayne syndrome patients exhibit sun sensitivity, severe neurological abnormalities and cachectic dwarfism. Clinical symptoms of trichothiodystrophy patients include sun sensitivity, ichthyosis and short brittle sulphur-deficient hair. In contrast to xeroderma pigmentosum patients, Cockayne syndrome and trichothiodystrophy patients are not prone to ultraviolet-induced skin cancers (melanoma, squamous and basal cell carcinomas). As the genotype-phenotype correlations are quite complex, these syndromes can serve as model diseases for skin cancer development and neurodegeneration as well as epidermal cell differentiation that may lead to new preventive and therapeutic strategies in a broader sense.