Rothmund-Thomson Syndrome is a hereditary benign 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, and a hereditary genetic basis, mutations in the DNA Helicase RECQL4, has been implicated in the syndrome.[1][2]
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[3]
References
- ^ [1] OMIM entry
- ^ Hicks, MJ. et al. Clinicopathologic Features of Osteosarcoma in Patients with Rothmund-Thomson Syndrome. Journal of Clinical Oncology 25(4): 370-375. 2007.
- ^ L.L. Wang, et al., 2001, Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients, Am J. Med. Genetics, Jul 22;102(1):11-7
Links
www.rtsplace.org for user based information and www.riastrust.org the UK site
