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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Limited scleroderma


Other Names for this Disease
  • Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia syndrome
  • Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia
  • CREST syndrome
  • Limited cutaneous systemic scleroderma
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Overview



What is CREST syndrome?

What causes CREST syndrome?

How is CREST syndrome diagnosed?

How might CREST syndrome be treated?


What is CREST syndrome?

CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs.[1][2] The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease.[3]

(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.[1]

(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.[1]

(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.[1]

(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.[1]

(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.[1]

It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease.[1] Some doctors believe only two of the five are necessary for a diagnosis.[2][3]

Last updated: 12/7/2011

What causes CREST syndrome?

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.[2]

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.[2]

Last updated: 12/7/2011

How is CREST syndrome diagnosed?

CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions — such as polymyositis, lupus and rheumatoid arthritis.[2]
 
A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies.[2]

Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either.[2] 

Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted.[2]
Last updated: 12/7/2011

How might CREST syndrome be treated?

Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken.[4] Treatment generally focuses on relieving signs and symptoms and preventing complications.[5] Heartburn may be relieved by antacid medications that reduce the production of stomach acid. Medications that open small blood vessels and increase circulation may help relieve Raynaud's symptoms and reduce increased pressure in the arteries between the heart and lungs. Drugs that suppress the immune system have shown promise in preventing interstitial lung disease (a condition in which excess collagen collects in the tissue between the lungs' air sacs) in some people with CREST syndrome. To prevent loss of mobility, stretching exercises for the finger joints are important. A physical therapist can also show affected individuals some facial exercises that may help keep the face and mouth flexible. If CREST syndrome is making it difficult to perform daily tasks, an occupational therapist can help individuals learn new ways of doing things. For example, special toothbrushes and flossing devices can make it easier to care for the teeth. Surgery may be necessary for some affected individuals. Large or painful calcium deposits sometimes need to be surgically removed, and amputation of fingertips may be necessary if skin ulcers progress to gangrene.[5] Depression affects approximately 45% of patients with systemic sclerosis and 64% also develop anxiety, so early assessment and treatment of these psychological issues is recommended.[4]

For pain management, studies have shown that oxycodone is effective and safe for pain due to severe skin ulcers, while topical lidocaine helps reduce pain of digital ulcers in individuals with systemic scleroderma.[6][7]
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There are also some lifestyle changes and home remedies that may be helpful for some individuals with CREST syndrome. To reduce Raynaud's symptoms, individuals may consider wearing gloves or mittens outdoors when the weather is cool, and indoors when reaching into the freezer, for example. To maintain the body's core temperature, individuals may dress in layers and wear a hat or scarf, thermal socks, and well-fitting boots or shoes that don't cut off  the circulation. Individuals who smoke should talk to their doctor about the best ways to quit. Nicotine constricts the blood vessels, making Raynaud's phenomenon worse. Individuals who have difficulty swallowing may consider choosing soft, moist foods and chewing food well. To minimize acid reflux individuals may eat small, frequent meals; avoid spicy or fatty foods, chocolate, caffeine, and alcohol; and avoid exercising immediately before or after eating. Sitting upright for a couple of hours after a meal may also help. To help keep skin soft, individuals may avoid harsh soaps and detergents, while choosing gentle skin cleansers and bath gels with added moisturizers. Individuals may also consider bathing less frequently and taking brief baths and showers, using warm rather than hot water. Moisture levels in the home may be improved by using a humidifier to ease skin and breathing symptoms.[5]

For additional information about how CREST syndrome may be treated, the following article from eMedicine may be helpful:  http://emedicine.medscape.com/article/1064663-treatment#showall

The information provided here is for general educational purposes only. Individuals interested in learning about specific treatment options for themselves or family members should speak with their healthcare provider.
Last updated: 8/11/2011

References
  1. 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.
  2. Mayo Clinic Staff. Limited Scleroderma (CREST syndrome). MayoClinic.com. 2011; http://www.mayoclinic.com/health/crest-syndrome/DS00580. Accessed 12/7/2011.
  3. Makover ME. CREST syndrome. MedlinePlus. 2011; http://www.nlm.nih.gov/medlineplus/ency/imagepages/19507.htm. Accessed 12/7/2011.
  4. Jeanie C Yoon. CREST syndrome. eMedicine. September 22, 2009; http://emedicine.medscape.com/article/1064663-overview. Accessed 8/11/2011.
  5. Limited scleroderma (CREST syndrome). Mayo Clinic. June 2, 2011; http://www.mayoclinic.com/health/crest-syndrome/DS00580. Accessed 8/10/2011.
  6. Giuggioli D, Manfredi A, Colaci M, Ferri C. Oxycodone in the long-term treatment of chronic pain related to scleroderma skin ulcers. Pain Medicine. October 2010; 11(10):1500-1503. http://www.ncbi.nlm.nih.gov/pubmed/20456083. Accessed 8/11/2011.
  7. Ozgocmen S, Kaya A, Coskun BK. Topical lidocaine helps reduce pain of digital ulcers in systemic sclerosis (scleroderma). Clinical Rheumatology. May 2006; 25(3):378-379. http://www.ncbi.nlm.nih.gov/pubmed/16211339. Accessed 8/11/2011.