CREST Syndrome or Systemic Sclerosis: Types, Causes, Risk Factors, Symptoms, Treatment

CREST syndrome is also known as systemic sclerosis, morphea-linear, mixed connective disease, progressive systemic sclerosis, limited scleroderma and localized scleroderma.

CREST syndrome is a subtype of scleroderma. The literal meaning of scleroderma is hardened skin.

• C stands for calcinosis which refers to the calcium deposits in tissues and beneath the skin.
• R stands for Raynaud’s phenomenon.
• E stands for esophageal dysmotility that usually causes heartburn, commonly experienced by CREST patients.
• S stands for sclerodactyly which is referred to as the thick skin on the fingers.
• T stands for telangiectasias, which refers to enlarged blood vessels. Appearance of red color spots on the face and other regions.

CREST syndrome is a kind of autoimmune disorder. An autoimmune disorder is a condition in which the immune system of the body starts attacking and destroying its own healthy tissues. CREST syndrome is a disorder of the connective tissue. CREST syndrome is a condition in which changes occur in the muscles, internal organs, skin, and blood vessels of the body.

CREST syndrome usually affects the legs and lower arms, which are often associated with the changes of the skin. CREST syndrome may also affect the throat and face in few of the cases. CREST syndrome occurring in the digestive tract leads to serious lung and heart disorders.

Treatment for CREST syndrome is very difficult, as there is no proper cure available to treat the condition. Therefore its treatment highly concentrates on reducing the symptoms in order to prevent serious complications.

• Limited Scleroderma: Limited scleroderma affects the limited areas of skin. Skin of the face or fingers becomes thick. Limited scleroderma is very frequent among Caucasians when compared to other people. Symptoms of limited scleroderma vary with different individuals. Few of the common symptoms are cold intolerance, acid reflux, and teleangiectasia. Organs of the body like heart or lungs are generally not involved or even if involved will be to a very lesser degree.
• Diffuse Scleroderma: Diffuse scleroderma affects many areas of the skin by thickening the skin but symptoms vary to a large extent. Diffuse scleroderma may involve the skin of the legs, trunk, and arms. Tightening of the skin often creates difficulty while bending the hands, fingers, and other joints. Inflammation of the tendons, muscles and joints also occur in some cases of diffuse scleroderma. Tight skin on the face often reduces the size of an individual’s mouth and requires special attention towards dental care. Areas on the skin may get dark or light depending upon the changes in the skin pigment. Loss of hair on the limbs, development of dry skin, and less sweat is experienced due to the damaged skin. Diffuse scleroderma may also affect the internal organs like the lungs, kidneys, gastrointestinal tract, and heart.

The recorded ratio of male and female is found as 1:10,000 in females and 4:1 in males. CREST syndrome usually affects people between the age group of 25 to 55 years, however the disease may affect at any age. CREST syndrome is very rare among children. Females are more prone to CREST syndrome when compared to males. Worldwide ratio of males and females in CREST syndrome is recorded as 1:4.6. In United States women of African descent often get affected with CREST syndrome when compared to the women of European descent. Choctaw Native Americans also cover higher rates of CREST syndrome than other races.

The exact cause of CREST syndrome is unknown. CREST syndrome is suspected to be an autoimmune disorder. This happens when the body’s immune system starts producing autoimmune antibodies in order to attack its own healthy tissues. Individuals who often develop too much collagen in their skin and other organs tend to get affected with CREST syndrome. Generally CREST syndrome affects people in the age group of 25 to 55 years. CREST syndrome also may affect large regions of the skin and organs like lungs, kidneys and heart.

• Sex: Women are more prone to CREST syndrome when compared to men.
• Genetic Factors: Genetic factors are also responsible for CREST syndrome. It may also be caused due to family history of autoimmune diseases like Hashimoto’s disease, lupus and rheumatoid arthritis.
• Exposure to Toxins: Toxic substances like silica, trichloroethylene, polyvinyl chloride and benzene may also cause CREST syndrome.

Although CREST syndrome affects the skin, whole body may also get affected.

• Abnormally dark or light skin.
• Skin stiffness, tightness, and thickening of hands, forearm and fingers.
• Ulcers on the toes and fingertips.
• Skin hardness.
• Skin of the face may become tight.
• Hair loss.
• Small white lumps under the skin.
• Stiffness, swelling, and pain is also experienced in the joints and fingers.
• Wrist pain.
• Joint pain.
• Pain and numbness in the feet.
• Shortness of breath.
• Wheezing.
• Dry cough.
• Diarrhea.
• Heartburn or esophageal reflux.
• Bloating.
• Fecal incontinence.
• Constipation.
• Difficulty while swallowing.

There is no proper cure available for treating CREST syndrome. Therefore, its treatment concentrates on controlling the symptoms in order to prevent complications.

• Antacid Drugs: Antacid drugs are often prescribed in case of heartburn, caused due to CREST syndrome. Antacid drugs help in reducing the production of stomach acid.
• Blood Pressure Lowering Drugs: Blood pressure lowering drugs that are used in increasing circulation may not only help in relieving Raynaud’s symptoms but also reduce increased pressure in the arteries between the lungs and heart.
• Immunosuppressants: Drugs to suppress the immune system help in preventing interstitial lung disease, a disorder in which excess collagen collects in the tissues between the lungs i.e., air sacs in CREST syndrome.

• Physical Therapy (PT): Stretching exercises help in preventing loss of mobility in the joints of the fingers. Facial exercises may help in keeping the face and mouth flexible.
• Occupational Therapy: CREST syndrome may create difficulty while performing daily tasks.

• Calcium Deposits: In some cases, surgical procedure is performed for removing painful and large calcium deposits.
• Red Spots and Lines: Laser surgery helps in reducing the red spots and lines caused due to swollen blood vessels near the skin surface.
• Gangrene in Fingers: Fingertips may need to be amputated in some cases due to gangrene formation from the skin ulcers.

A complete subjective and physical examination is performed to diagnose CREST syndrome. Hard, tight, thick skin is a common finding on physical examination.

• ESR.
• Rheumatoid factor.
• Antinuclear antibody panel.
• Antibody testing.

• Echocardiogram.
• Urinalysis.
• Chest x-ray.
• Skin biopsy.
• CT scan of the lungs.
• Tests to check the functioning of gastrointestinal tract and lungs.

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