Scleroderma

Scleroderma is an ongoing (chronic) disease that causes abnormal growth of connective tissue. It can affect the joints, skin and internal organs. It is a rare degenerative disease and gets worse over time.

There are two main types of scleroderma: localized and systemic.

• Localized scleroderma. The disease only affects one area of the body. This form of the disease is seen more often in children. It may involve patches of skin on the trunk, arms, legs or head.
• Systemic scleroderma. This type affects the whole body. It rarely occurs in children.

Scleroderma is thought to be an autoimmune disease. This means the symptoms are caused by the body attacking its own healthy tissues. Genes play a role in the disease, but it is not passed on from parents to children. Some environmental factors may also play a role.

Scleroderma can lead to scarring of the skin, joints and internal organs. Symptoms can occur a bit differently in each child. They may include:

• Thick, swollen fingertips
• Pale and tingly fingers that may turn numb when out in the cold or during emotional upset (Raynaud's phenomenon)
• Joint pain
• Taut, shiny, darker skin on large areas that may cause problems with movement
• Spider veins
• Calcium bumps on the fingers or other bony areas
• Frozen (immobile) fingers, wrists or elbows because of scarring of the skin
• Sores on fingertips and knuckles
• Grating noise as inflamed tissues move
• Scarring of the esophagus, leading to heartburn and trouble swallowing
• Scarring of the lungs, leading to shortness of breath
• Heart failure and abnormal heart rhythms
• Kidney disease

Symptoms of localized sclerosis may include:

• Shiny, thickened patches of skin
• Lighter or darker (discolored) skin
• Joint tightness

These symptoms can seem like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

Your child’s healthcare provider will ask about your child’s health history and do a physical exam. Diagnosis is based on the changes in the skin and internal organs. An antibody test may help show the type of scleroderma. Your child may need other tests, such as:

• Blood and urine tests. These can help find any problems with blood counts, kidney or liver function.
• Electrocardiogram (ECG). This test records the heart’s electrical activity, shows abnormal rhythms and finds heart muscle damage. An ECG may be done to find changes in the heart muscle tissue due to scleroderma.
• Echocardiogram. This test uses sound waves to create a moving image of the heart and its valves. It looks at the structure and function of the heart.
• X-ray. This test uses a small amount of radiation to create images of internal tissues, bones and organs. X-rays may show changes in bone, soft tissues and organs caused by scleroderma.

Treatment will depend on your child’s symptoms, age and general health. It will also depend on how severe the condition is.

Treatment may include:

• Medicine to ease pain. These include nonsteroidal anti-inflammatory medicines or corticosteroids.
• Medicine to slow the skin thickening process and delay damage to internal organs (penicillamine)
• Medicine to weaken the immune system (immunosuppressive medicines)
• Treatment of specific symptoms, such as heartburn and Raynaud's phenomenon
• Physical therapy and exercise to maintain muscle strength

Talk with your child’s provider about the risks, benefits and possible side effects of all medicines.

Complications of scleroderma vary depending on the type of the disease and how severe it is. Treatment may prevent or reduce problems. Possible complications may include:

• Thickened, tight skin
• Arthritis
• Seizures
• Behavior and learning problems
• Vision changes
• GERD (gastroesophageal reflux) or heartburn
• Less lung function
• Heart and kidney damage

Work with your child's healthcare provider. Together you can make a treatment plan. The plan can help your child be active as much as possible in school, and in social and physical activities. Make life as normal as possible for your child. Encourage exercise and physical therapy and find ways to make it fun. You can also help your child find a support group to be around other children with scleroderma. Work with your child's school to make sure your child has help as needed. Your child may also qualify for special help under Section 504 of the Rehabilitation Act of 1973.

Tell the healthcare provider if your child's symptoms get worse or there are new symptoms.