There are two forms of scleroderma: localized scleroderma and systemic sclerosis. Localized scleroderma can be 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 is a chronic, degenerative disease that affects the joints, skin, and internal organs. Scleroderma is also associated with blood vessel abnormalities. Systemic sclerosis occurs only rarely in children.
Scleroderma is considered to be a multifactorial condition. Multifactorial inheritance means that many factors are involved in causing a health problem. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. Often one gender (either males or females) is affected more frequently than the other in multifactorial traits.
Scleroderma can lead to scarring of the skin, joints, and other internal organs. The following are the most common symptoms of scleroderma. However, each child may experience symptoms 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 phenomenon)
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
Symptoms of localized scleroderma may include:
Shiny, thickened patches of skin
Discolored (lighter or darker) skin
Symptoms of scleroderma may resemble other medical conditions or problems. Always consult your child's doctor for a diagnosis.
Diagnosis of scleroderma is usually based on the changes in the 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 abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage. An EKG may be done to detect changes in the EKG pattern which may be caused by changes in the heart muscle tissue due to scleroderma.
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 that 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.
Specific treatment for scleroderma will be determined by your child's doctor based on:
Your child's overall health and medical history
Extent of the condition
Your child's tolerance for specific medications, procedures, and therapies
Expectation for the course of the disease
Your opinion or preference
Treatment may include:
Nonsteroidal, anti-inflammatory medications 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 phenomenon
Physical therapy and exercise to maintain muscle strength