Scleroderma

Scleroderma is a chronic autoimmune condition that leads to scarring of the skin, joints, and other internal organs.

• In the United States, about one in 1,000 people are affected.
• While found among all races worldwide, the disease has high rates among the native American Choctaw tribe and African-American females.
• Women are four times more likely to develop scleroderma than men.

There are two forms of scleroderma: localized scleroderma and systemic sclerosis.

• Localized scleroderma is seen more frequently in children than the systemic form. It may involve patches of the skin on the trunk, arms, legs, or head. Other names for the localized form are morphea and linear scleroderma.
• Systemic sclerosis occurs only rarely in children. It is a chronic, degenerative disease that affects the joints, skin, and internal organs. This type of scleroderma is also associated with blood vessel abnormalities.

Scleroderma can lead to scarring of the skin, joints, and other internal organs, but it's important to remember that each child may experience scleroderma differently.

Symptoms of systemic sclerosis may include:

• Thickening and swelling of the tips of the fingers
• Pale and tingly fingers that may become numb when exposed to cold or when emotionally upset (called Raynaud's phenomenon)
• Joint pain
• Morning stiffness
• Taut, shiny darker skin on large areas such as the face that may hinder movement
• Appearance of spider veins
• Calcium bumps on the fingers or other bony areas
• Grating noise as inflamed tissues move
• Frozen (immobile) fingers, wrists, or elbows due to scarring of the skin
• Sores on fingertips and knuckles
• Scarring of the esophagus, leading to heartburn and difficulty swallowing
• Scarring of the lungs, leading to shortness of breath
• Heart failure and abnormal heart rhythms
• Kidney disease

Symptoms of localized scleroderma may include:

• Shiny, thickened patches of skin
• Discolored (lighter or darker) skin
• Joint tightness

CREST syndrome

A less severe form of scleroderma is called CREST. The CREST syndrome represents the following symptoms:

• Calcium skin deposits
• Raynaud's phenomenon
• Esophageal dysfunction (problems with the esophagus, the tube between the mouth and the stomach)
• Sclerodactyly (skin damage on fingers)
• Telangiectasia (spider veins), limits skin damage to the fingers. However, this disease, when coupled with pulmonary hypertension (elevated blood pressures within the lungs), can lead to heart and respiratory failure.

Scleroderma is considered to be a multifactorial condition, meaning that "many factors" are involved in causing it. The factors are usually both genetic and environmental — a combination of genes from both parents, in addition to unknown environmental factors, produce the condition.

Diagnosis of scleroderma is usually based on the changes in your child's skin and internal organs. An antibody test may help distinguish the type of scleroderma present. In addition to a complete medical history and physical examination, diagnostic procedures for scleroderma may include:

• Electrocardiogram (EKG or ECG): a test that records the electrical activity of the heart, shows arrhythmias (abnormal rhythms), and detects heart muscle damage. An EKG may be done to detect changes in the EKG pattern which may be caused by the disease.
• Echocardiogram: a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves
• X-ray: a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones and organs onto film. X-rays may detect changes in bone and soft tissues, the gastrointestinal tract, and the lungs caused by scleroderma.

Since there is no treatment for scleroderma itself, treatment is targeted to alleviate your child's symptoms. Components of your child's treatment may include:

• Nonsteroidal, anti-inflammatory medications (NSAIDs) or corticosteroids to relieve pain
• Penicillamine to slow the skin thickening process and delay damage to internal organs
• Immunosuppressive medications, such as methotrexate
• Treating specific symptoms, such as heartburn and Raynaud's phenomenon
• Physical therapy and exercise to maintain your child's muscle strength

The Samara Jan Turkel Clinical Center for Pediatric Autoimmune Disease provides comprehensive and coordinated care and support for patients and families facing the complexities of scleroderma and other challenging autoimmune diseases. Clinical care includes outpatient and inpatient treatment, a wide range of rehabilitative therapies, pain management, outreach to complementary therapies such as acupuncture and massage, and developmental and psychosocial support.