Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Rothmund-Thomson syndrome
Introduction
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
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
External links
- http://www.rtsplace.org – For user based information and
- http://www.riastrust.org – UK site
References
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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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]