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Diseases

Genetic and Rare Diseases Information Center (GARD)

Rothmund-Thomson syndrome


Other Names for this Disease
  • Poikiloderma of Rothmund-Thomson
  • Poikiloderma atrophicans and cataract
  • Poikiloderma Congenitale
  • RTS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma.[1][2] Gastrointestinal problems or blood disorders may also occur.[1] It is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the RECQL4 gene. In some cases, the genetic cause is unknown.[3] Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer.[1]
Last updated: 3/10/2016

References

  1. Lisa L Wang and Sharon E Plon. Rothmund-Thomson Syndrome. GeneReviews. December 3, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1237/.
  2. Lidia LarizzaEmail author, Gaia Roversi and Ludovica Volpi. Rothmund-Thomson Syndrome. Orphanet J Rare Dis. 2010; 5:2:http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-2.
  3. Rothmund-Thomson syndrome. Genetics Home Reference. August, 2013; https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome.
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Basic Information

  • The American Cancer Society provides a detailed guide on osteosarcoma. Click on the above link to access this information.
  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Rothmund-Thomson syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rothmund-Thomson syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Poikiloderma of Rothmund-Thomson
  • Poikiloderma atrophicans and cataract
  • Poikiloderma Congenitale
  • RTS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.