Scleroderma in Children

What is scleroderma?

Scleroderma is a rare, chronic (ongoing) condition that affects the connective tissue in the body, primarily the skin. It can also affect the bones, joints, and internal organs such as kidneys, lungs, and the intestinal tract. The word scleroderma comes from the Greek “sclero”, which means hard, and “derma”, which means skin.

There are two types of scleroderma: localized scleroderma, which affects only the skin, and systemic scleroderma, which affects the whole body, including internal organs. In children, localized scleroderma is much more common than systemic scleroderma.

Scleroderma is considered an autoimmune disease, in which the body’s immune system mistakenly attacks healthy tissue, causing inflammation. It is a chronic disease, meaning that it can get worse over time. Treatment is focused on slowing the disease’s progression.

What are the symptoms of scleroderma?

In children, scleroderma usually begins with patches of discolored skin, which are sometimes accompanied by joint pain or swelling. As the disease progresses, the skin patches become hardened and waxy, eventually turning brown or white.

Children with systemic scleroderma often experience Reynaud’s syndrome, in which their fingers become numb or discolored when exposed to cold or stress. Other symptoms may include swollen fingers, muscle aches, calcium deposits under the skin, or stiff joints due to skin tightness. In severe cases, shortness of breath or difficulty swallowing may occur.

How is scleroderma diagnosed?

If scleroderma is suspected, your child will be referred to a pediatric rheumatologist, who will conduct a full medical exam. Your rheumatologist will most likely want to conduct some tests to confirm the diagnosis and to determine the severity of the disease. Tests will be based on the symptoms your child is experiencing and may include:

• Blood and urine tests can detect certain types of autoantibodies
• Imaging tests, such as X-ray, MRI, and CT, produce pictures of internal structures and organs and can detect any changes
• Skin biopsy allows a close examination of a sample of skin under a microscope
• Echocardiogram uses ultrasound imaging to look at the structure of the heart
• Pulmonary function test is a breathing test to measure lung function

How is scleroderma treated?

Physicians at our Pediatric Rheumatology Program will create a treatment plan based on the severity of your child’s condition. The goal of treatment for scleroderma is to stop inflammation before it causes permanent thickening of skin or other tissue. For children with systemic scleroderma, there is the additional goal of preventing organ involvement.

Treatment may include:

• Medication, including corticosteroids, methotrexate, and other immune modulators. These may be prescribed orally, topically, or intravenously (through the vein).
• Skin creams
• Protecting the skin from injury and extreme cold (especially for children who have Raynaud’s phenomenon)
• Physical therapy

Your child’s treatment plan will include regular visits with your rheumatologist to monitor the progression of the disease.

In localized scleroderma cases, treatment may last several years. Localized scleroderma rarely becomes systemic scleroderma.

Children with systemic scleroderma that has affected the kidney, lungs, or heart are at higher risk of complications. With early diagnosis and treatment it is possible for the disease to go into remission (no symptoms) for years at a time.