Other Names for this Disease
- Poikiloderma of Rothmund-Thomson
- Poikiloderma atrophicans and cataract
- Poikiloderma Congenitale
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cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma. Gastrointestinal problems or blood disorders may also occur. 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. 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.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;
Last updated: 3/10/2016
- Lisa L Wang and Sharon E Plon. Rothmund-Thomson Syndrome. GeneReviews. December 3, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1237/.
- 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.
- Rothmund-Thomson syndrome. Genetics Home Reference. August, 2013; https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome.
- 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.