136. Rothmund–Thomson Syndrome, Bloom Syndrome, Dyskeratosis Congenita, Fanconi Anaemia

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

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch136

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

Moss, C. (2011) Rothmund–Thomson Syndrome, Bloom Syndrome, Dyskeratosis Congenita, Fanconi Anaemia, 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.ch136

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, Birmingham Children's Hospital, Birmingham, UK

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:

  • ageing;
  • congenital anomalies;
  • DNA repair;
  • DNA replication;
  • haematological disease;
  • helicase;
  • malignancy;
  • pigmentation;
  • telomerase

Summary

Dermatologists should be aware of these four rare genetic disorders which may present in early childhood with subtle skin signs, particularly pigmentation changes, as well as other characteristic congenital anomalies, and subsequently manifest serious complications such as haematological disease and malignancy. They all represent disturbances of DNA replication or repair: Rothmund–Thomson and Bloom syndromes are due to mutations in DNA helicase genes; dyskeratosis congenita is a disorder of telomerase maintenance; Fanconi anaemia reflects susceptibility to genetic damage by cross-linking agents. Significant advances in our understanding of cellular ageing and repair processes have resulted from study of these disorders.