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Scleroderma

Definition

Scleroderma is a widespread connective tissue disease that involves changes in the skin, blood vessels, muscles, and internal organs.

Alternative Names

CREST syndrome; Limited scleroderma; Progressive systemic sclerosis; Systemic sclerosis; Localized scleroderma; Morphea, linear

Causes, incidence, and risk factors

The cause of scleroderma is unknown. People with this condition have a buildup of a substance called collagen in the skin and other organs. This buildup leads to the symptoms of the disease.

The disease usually affects people 30 to 50 years old. Women get scleroderma more often than men do. Risk factors include work exposure to silica dust and polyvinyl chloride.

Diffuse scleroderma can overlap with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. In such cases, the disorder is referred to as mixed connective disease.

Symptoms

Localized scleroderma usually affects only the skin on the hands and face. Its course is very slow, and it rarely, if ever, spreads throughout the body (becomes systemic) or causes serious complications.

Systemic scleroderma is also called systemic sclerosis. This form of the disease may affect the organs of the body, large areas of the skin, or both. This form of scleroderma has two main types: limited and diffuse scleroderma.

Skin symptoms may include:

• Blanching, blueness, or redness of fingers and toes in response to heat and cold (Raynaud's phenomenon)
• Hair loss
• Skin hardness
• Skin that is abnormally dark or light
• Skin thickening, stiffness, and tightness of fingers, hands, and forearm
• Small white lumps beneath the skin, sometimes oozing a white substance that looks like toothpaste
• Sores (ulcerations) on fingertips or toes
• Tight and mask-like skin on the face

Bone and muscle symptoms may include:

• Joint pain
• Numbness and pain in the feet
• Pain, stiffness, and swelling of fingers and joints
• Wrist pain

Breathing problems may include:

• Dry cough
• Shortness of breath
• Wheezing

Digestive tract problems may include:

• Bloating after meals
• Constipation
• Diarrhea
• Difficulty swallowing
• Esophageal reflux or heartburn
• Problems controlling stools (fecal incontinence)

Signs and tests

Examination of the skin may show tightness, thickening, and hardening.

Blood tests may include:

• Antinuclear antibody
• Anticentromere antibody
• Anti-SCL-70 antibody
• ESR
• Rheumatoid factor

Other tests may include:

• Chest x-ray
• CT scan of the lungs
• Echocardiogram
• Urinalysis
• Pulmonary function studies
• Skin biopsy

Treatment

There is still no treatment for the disease process of scleroderma. However, certain drugs and treatments help combat the complications.

Drugs used to treat scleroderma include:

• Corticosteroids
• Immune suppressing medications (methotrexate, Cytoxan)
• Nonsteroidal anti-inflammatory drugs (NSAIDs)

Other treatments for specific symptoms may include:

• Drugs for heartburn or swallowing problems
• Blood pressure medications (particularly ACE inhibitors) for high blood pressure or kidney problems
• Light treatments for skin thickening
• Medicines to improve breathing (See: Pulmonary hypertension)
• Medications to treat Raynaud's phenomenon

Treatment usually includes a combination of physical therapy and skin and joint protection techniques (for example, avoiding cold in the case of Raynaud's phenomenon).

Support Groups

See: Scleroderma - resources

Expectations (prognosis)

In most patients, the disease slowly gets worse. People who only have skin symptoms have a better outlook. Death may occur from gastrointestinal, heart, kidney, or lung complications.

One type of scleroderma, called limited scleroderma, involves only problems of the skin of the hands and face. It gets worse very slowly and usually does not affect other parts of the body.

Systemic scleroderma can involve many organs in the body. In some people, it will progress slowly and not involve any organs in the body. In other people, organs such as the lungs, kidneys, intestines, gallbladder, and heart become involved.

For some people, symptoms and problems develop quickly over the first few years, and continue to get worse. Others get worse much more slowly. Lung problems are the most common cause of death in patients with scleroderma.

Complications

• Heart failure
• Kidney failure
• Malabsorption
• Pulmonary fibrosis (the most common cause of death in people with scleroderma)
• Pulmonary hypertension

Calling your health care provider

Call for an appointment with your health care provider if:

• You have symptoms of scleroderma
• You have scleroderma and symptoms become worse or new symptoms develop

Prevention

There is no known prevention. Minimize exposure to silica dust and polyvinyl chloride.

References

Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007.

Varga J, Denton CP. Systemic sclerosis and the scleroderma-spectrum disorders. In: Firestein GS, Budd RC, Harris ED Jr., et al., eds. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 77.

Clouse RE, Diamant NE. Esophageal motor and sensory function and motor disorders of the esophagus. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2006:chap 41.