Rothmund-Thomson syndrome
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| Rothmund-Thomson syndrome Classification and external resources | |
| ICD-9 | 757.33 |
|---|---|
| OMIM | 268400 |
| DiseasesDB | 29891 |
| eMedicine | derm/379 |
| MeSH | D011038 |
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Rothmund-Thomson Syndrome is a rare autosomal recessive[1] skin condition originally described by August von Rothmund (1830-1906) in 1868. Matthew Sydney Thomson (1894-1969) published further descriptions in 1936.
There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, has been implicated in the syndrome.[2][3]
Key features
- Abnormal rash termed poikiloderma skin pigmentation
- Telangiectasia
- Juvenile cataracts
- Saddle nose
- Congenital bone defects, particularly radial ray anomalies and short stature
- Hair growth problems (absent eyelashes, eyebrows and/or hair)
- Hypogonadism has not been well documented
- Hypodontia
- Osteosarcoma[4]
External links
- http://www.rtsplace.org - For user based information and
- http://www.riastrust.org - UK site
References
- ↑ Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak. 17 (7): 423-424. PMID 17686357.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 268400
- ↑ Hicks, MJ. et al. Clinicopathologic Features of Osteosarcoma in Patients with Rothmund-Thomson Syndrome. Journal of Clinical Oncology 25(4): 370-375. 2007. PMID 17264332
- ↑ L.L. Wang, et al., 2001, Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients, Am J Med Genet. 102(1):11-7 PMID 11471165
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
