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Rothmund Thomson

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
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Abstract

Rothmund-Thomson syndrome is a rare genodermatosis with the prominent feature of poikiloderma. It is inherited in an autosomal recessive manner and has a mutation in the gene RECQL4. This gene encodes an adenosine triphosphate-dependent DNA helicase, which is ultimately involved in DNA repair. Both genders are equally affected and most patients present in the first year of life.

Reference

  1. 1.
    Yang JY, Sohn YB, Lee JS, Jang JH, Lee ES. Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings. JAAD Case Rep. 2017;3(3):172–4.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

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