Rothmund-Thomson syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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
Template:Congenital malformations and deformations of integument
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