Limited cutaneous systemic sclerosis
- Limited cutaneous systemic scleroderma
Your QuestionIs CREST syndrome genetic?
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(C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result.
(R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.
(E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation.
(S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss.
(T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems.
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.