Other Names for this Disease
- Calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
- Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia syndrome
- Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia
- CREST syndrome
- Limited cutaneous systemic scleroderma
Your QuestionIs CREST syndrome genetic?
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In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs.
Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors.
An article which describes two cases of familial CREST syndrome can be accessed at the following link.
- Scleroderma. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2010; http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp. Accessed 12/7/2011.
- Mayo Clinic Staff. Limited Scleroderma (CREST syndrome). MayoClinic.com. 2011; http://www.mayoclinic.com/health/crest-syndrome/DS00580. Accessed 12/7/2011.
- Makover ME. CREST syndrome. MedlinePlus. 2011; http://www.nlm.nih.gov/medlineplus/ency/imagepages/19507.htm. Accessed 12/7/2011.
- What is Scleroderma?. Scleroderma Research Foundation. 2011; http://www.srfcure.org/for-patients/what-is-scleroderma. Accessed 12/7/2011.
- Merkel PA. Scleroderma (Systemic Sclerosis). American College of Rheumatology. 2010; http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/scleroderma.asp. Accessed 12/7/2011.