CREST syndrome, also known as limited scleroderma, is an autoimmune disease with symptoms similar to other varieties of scleroderma. Excessive production and accumulation of collagen, which hardens the skin, is characteristic of CREST syndrome. Unlike systemic scleroderma, though, symptoms typically occur only below the knees and elbows, and on the face and neck. Occasionally, they may spread to the internal organs, but this is rare. Other kinds of scleroderma can affect the skin anywhere on the body and often the internal tissues.

Calcinosis

CREST is an acronym for the five signature and observable characteristics of this syndrome. The first is calcinosis. Calcium deposits form in the connective tissue, leading to tightening and thickening of the skin. Calcinosis often makes skin look shiny because it is pulled taut. Side effects of the symptom include difficulty bending or moving fingers and toes and opening the mouth. This condition can also cause small but noticeable bumps under the skin.

Raynaud’s Phenomenon

The second symptom of CREST is Raynaud’s phenomenon, a condition that results in poor blood flow to the many small blood vessels that supply the fingers and toes. Spasms in low temperatures or emotionally stressful conditions block blood flow, and the skin pales before becoming numb and cold and turning blue or grey. As circulation returns to the fingers and toes, the skin reddens and may tingle or throb. Though Raynaud’s phenomenon is usually the first symptom of CREST syndrome, many people have Raynaud’s but not scleroderma.

Esophageal Dysmotility

Between the stomach and pharynx in the throat is the esophagus, a long fibromuscular tube that not only enables swallowing but also prevents gastric reflux. CREST syndrome causes atrophy of the gastrointestinal tract’s smooth muscle, which affects esophagus motility or its ability to move food. Esophageal dysmotility causes chest pain, coughing, or food caught in the esophagus. Many people with esophageal dysmotility find they must drink liquids while eating to ensure solid food makes it to their stomachs. This can also lead to more frequent acid reflux, heartburn, and inflammation.

Sclerodactyly

CREST syndrome’s most observable symptom is sclerodactyly, a condition that causes thickening of the skin of the fingers. Only the tips and middles of the fingers thicken in most cases. Early in the process, the skin may look inflamed or like fluid is building up. As the issue progresses, collagen deposits accumulate, making the skin tighten and harden. Between 30 and 50% of patients also develop ischemic ulcers in their fingers.

Telangiectasias

Another of CREST’s more recognizable symptoms is the formation of spider veins or telangiectasias in the face, palms, and mucous membranes. These small, dilated blood vessels resemble blue or bright red spiderwebs. In comparison to other types of scleroderma, CREST syndrome usually causes fewer spider veins. However, the number and the locations in which they appear tend to increase as the disease progresses.

Other Effects

In addition to the five symptoms that give CREST syndrome its name, the disease can cause other issues resulting from the previously mentioned symptoms, excess collagen, and autoimmune issues. Many people experience exhaustion, weakness, difficulty breathing, dizziness, and pain. In some cases, wounds heal more slowly. Pulmonary artery hypertension and heart failure are also common.

Causes and Risk Factors

Doctors and researchers have not identified what causes CREST syndrome. The prevailing theory presumes autoimmune anti-nuclear and anti-centromere antibodies, which stimulate the production of too much collagen, are a factor. Females are more at risk of developing CREST syndrome, as are people between the ages of 30 and 50.

Complications

While many of CREST syndrome’s effects are visible, the worst complications occur under the skin.

• CREST syndrome affects the intestine and can cause diarrhea, bloating, weight loss, malnutrition, and constipation.
• Raynaud’s phenomenon can lead to gangrene and sometimes requires amputation.
• Excess collagen can collect in the lungs’ air sacs, inhibiting breathing.
• High blood pressure can result in heart or kidney failure.
• Dental problems from acid reflux and gum tissue changes can eventually cause teeth to loosen or fall out.

Diagnosis

CREST syndrome is often difficult to diagnose as it resembles many other diseases and disorders. The primary method of diagnosis requires identifying at least two of the five characteristic symptoms. During a physical exam, doctors look for changes in skin color, texture, and appearance. They may also order lab tests to find antibodies that hint at CREST syndrome. Skin biopsies can help discover skin changes, as well.

Treatment

Doctors currently have no cure for CREST syndrome, due in part to there being no cure for systemic scleroderma. Immunosuppressives can help slow the progression of the disease. Other medications help manage symptoms like acid reflux, pulmonary hypertension, and Raynaud’s phenomenon. Physical therapy can help people maintain finger and toe mobility. Therapists may also provide exercises to help keep the mouth flexible. Rarely, do individuals require surgery to remove calcium deposits?