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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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Your Question

Does CREST syndrome run in families? If a family member is affected, should other members of the family be tested?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Is CREST syndrome genetic?

Although genes seem to put certain people at risk for scleroderma and play a role in its course, the disease is not passed from parent to child like some genetic diseases.[1] In other words, it appears that genetic defects may make people more susceptible to scleroderma and CREST syndrome.[2][4][5] In fact, an individual with an affected relative is twice as likely to develop the condition as someone without a family history.[4]

An article which describes two cases of familial CREST syndrome can be accessed at the following link.
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

If a member of my family has CREST syndrome, should other family members be tested for it?

Although individuals with an affected relative are twice as likely to develop the condition as someone without a family history, there is no definitive test for CREST syndrome.[2][4] Therefore, unless an individual is showing symptoms consistent with CREST syndrome, testing may not be beneficial. Individuals wishing to be tested should discuss their concerns with their primary care physician.
Last updated: 12/7/2011