Symptoms
Some of the characteristic physical features of the syndrome are:
- Skin: swollen red patches that usually start on the cheeks and spread; these patches change into sunken red blotches and areas of lightened or darkened skin. The skin may be sensitive to sunlight (photosensitivity).
- Bones: short stature; distinctive facial features including a prominent forehead and sunken nose; underdeveloped or missing forearm bones or thumbs
- Eyes: cataracts
- Genitals: underdeveloped or missing testes in males or ovaries in females
Diagnosis
More than 90 percent of children with the disorder show the skin symptoms before they are 1 year old. Diagnosis is based on the physical symptoms.
Risk for long-term problems
People with Rothmund-Thomson syndrome are at higher than normal risk for some serious medical problems, such as:
- osteosarcoma (bone cancer)
- cataracts
- skin cancer
Treatment
There is no way at present to cure or reverse the effects of Rothmund-Thomson syndrome. The skin lesions may be treated with medications such as isotretinoin (Accutane) or salicylic acid, or with laser therapy. Care by a dentist, orthopedist, endocrinologist, and ophthalmologist will help detect the development of any long-term complications. People affected by Rothmund-Thomson syndrome are photosensitive and should use sun protection when outdoors. With good care, people with the syndrome can have a normal life span.
Sources:
- Hsu, Sylvia and Saira George. "Rothmund-Thomson Syndrome." eMedicine 10 Aug 2005 23 Feb 2007 <http://www.emedicine.com/derm/topic379.htm>.
- "Rothmund Thomson Syndrome." Index of Rare Diseases. 19 Feb 2007. National Organization for Rare Disorders. 23 Feb 2007 <http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Rothmund%20Thomson%20Syndrome>.
- Wang, L.L., M.L. Levy, R.A. Lewis, M.M. Chintagumpala, D. Lev, M. Rogers, and S.E. Plon. "Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients." Am J Med Genet 102(2001): 11-17.
