Pediatric Systemic Scleroderma
What is scleroderma?
Scleroderma is a condition in which the skin becomes unusually thick and hard. It is an autoimmune disease that causes inflammation (swelling) in the skin. The swelling can trigger an overproduction of collagen cells, a fibrous protein that is a major part of many tissues in the body. This overproduction can lead to fibrosis, or scarring.
What are the types of scleroderma?
There are two broad types of scleroderma:
- Localized scleroderma: This form of scleroderma affects skin in only some area of the body and only occasionally spreads to underlying muscles or bone. It rarely involves internal organs and does not change into the generalized forms of scleroderma.
- Systemic scleroderma (systemic sclerosis): This form of scleroderma can cause generalized thickened skin in all parts of the body. In addition to skin changes, scar tissue could develop in internal organs such as the kidneys, heart, lungs and gastrointestinal tract. Children with systemic sclerosis have more widespread skin changes that can result in limited joint movement.
Raynaud’s phenomenon (white, blue and red color changes of the fingers and/or toes upon exposure to cold or stress) is present early in a child with systemic sclerosis, as well as fatigue, joint pain, difficulty swallowing, abdominal pain, heartburn, diarrhea and shortness of breath.
Children with systemic sclerosis should be checked often for high blood pressure, as well as lung, kidney, gastrointestinal and heart problems.
Who is affected by scleroderma?
There are only 5,000 to 7,000 children with scleroderma in the United States. It is more common in adults then children. Only two percent of all people with scleroderma develop the disease before age 10, and seven percent develop it between ages 10 and 19.
Symptoms and Causes
What causes pediatric systemic scleroderma?
The exact cause of pediatric systemic scleroderma is unknown. It seems to involve a disorder of the cells lining small blood vessels.
It may also be related to defects in the immune system, in which the body's normally protective defense system causes damage to its own tissues.
Normally, the immune system helps defend the body against infection. In patients with scleroderma, the immune system triggers other cells to produce too much collagen (a protein). This extra collagen is deposited in the skin and organs, which causes hardening and thickening (similar to the scarring process).
What are the signs and symptoms of pediatric systemic scleroderma?
The skin changes of systemic scleroderma can include:
- Loss of the skin’s ability to stretch
- Decreased hand function (because of skin tightening on fingers and hand)
- Raynaud's phenomenon (abnormal sensitivity to cold), which is usually seen in the hands. Signs include color changes in the hands (white, blue, red), tingling, discomfort and decreased sensation.
- Enlarged red blood vessels on the hands, face and around the nail beds (telangiectasias)
- Calcium deposits in the skin or other areas (calcinosis)
Initially, the skin of the hands and feet appears swollen. Over time, the skin tightens and hardens and may appear to have ridges, depressed areas or small pits that are seen mostly at the fingertips.
Since there is not much pain, it is common for scleroderma to be present for quite some time before a parent or child becomes concerned.
Other signs and symptoms of systemic scleroderma from internal organ involvement may include:
- Joint inflammation with stiffness and pain
- Sores (ulcers), mostly on the fingertips
- Digestive problems (heartburn, trouble swallowing, diarrhea, stomach cramps)
- Respiratory problems (chronic cough, difficulty breathing, tiredness)
- Kidney involvement can lead to hypertension
- Fatigue (easily becoming tired)
- Muscle weakness
Diagnosis and Tests
How is pediatric systemic scleroderma diagnosed?
The diagnosis of systemic scleroderma is often made by a rheumatologist (arthritis/autoimmune specialist) or dermatologist (skin specialist) based on a combination of factors, including:
- The presence of symptoms and physical signs
- Characteristic skin changes (including location, size, shape, color)
- Results of a complete medical history and physical exam
There is no specific testing to diagnose systemic scleroderma. Lab tests are used to eliminate other diseases that are similar, to assess how active scleroderma is and to determine if organs other than the skin are involved. Testing for some autoimmune protein can help determine the course of the disease. A skin biopsy is not typically performed.
Additional tests for systemic scleroderma include:
- Blood tests in which autoimmune proteins and kidney function are measured
- X-rays, which can show changes in the skin, bones and internal organs (such as the lungs and intestines)
- Tests to evaluate the swallowing function of the esophagus (the tube leading from the mouth to the stomach)
- Pulmonary function test (breathing test) to make sure the lungs are working properly
- Echocardiography (ultrasound of the heart) to look at how the heart is functioning
Management and Treatment
How is pediatric scleroderma treated?
There is no cure for scleroderma, but with proper diagnosis, it can be treated and controlled. The objective of treatment is to stop the inflammation, keep the disease from getting worse and prevent internal organ involvement.
The choice of the most suitable treatment is made by a pediatric rheumatologist with experience in scleroderma, in conjunction with other specialists looking after specific systems (GI tract, heart, lungs and kidneys).
- Corticosteroids may be used to decrease inflammation in muscles, joints or rarely in the skin itself. Steroids can also be helpful in treating the early stages of internal organ inflammation. Generally, steroids do not work in the later stages of systemic sclerosis.
- Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and naproxen are sometimes used for children with arthritis to decrease joint inflammation.
- Medications that dilate blood vessels and improve blood flow are often used to treat Raynaud's phenomenon.
Other treatments are currently under investigation and there is concrete hope that more effective therapies will be found in the future. In very severe cases, autologous bone marrow transplantation may be considered.
Protecting the skin will help maximize blood flow to the skin, hands and feet, especially for children who have Raynaud's phenomenon. Here are some tips:
- Avoid injury to the affected areas, especially the tips of the fingers and the toes.
- Protect the child's hands and feet from cold. Keep rooms at a warm temperature and have the child wear an extra layer of clothing in the winter, as well as a hat with ear muffs, gloves and warm socks. Wool is warmer than cotton or synthetic fabrics, and several layers of thin clothing are better than one heavy or thick layer of clothing.
- Avoid smoking or exposure to smoke.
- Avoid cold medications that include pseudoephedrine.
- Protect the child from excess sun exposure and use sunscreens as recommended.
- Avoid using astringents, body or facial scrubs or harsh detergents on the skin.
- Use lotions as prescribed by your doctor to keep your child's skin soft.
Basic stretching and guided exercise programs with physical and occupational therapists help the child maintain flexibility, joint range of motion, muscle strength and blood flow to the affected areas. Therapy will also help prevent joint contractures (bends at the joints). Splints may be recommended if necessary.
In rare instances, orthopedic hand or cosmetic surgery may become necessary to correct severe joint contractures or skin deformities or scars. Before surgery can be performed, the disease must usually be in remission (not active) for several years.
Can pediatric systemic scleroderma be prevented?
There is no known way to prevent systemic scleroderma. It is not contagious: you cannot get scleroderma by shaking hands, sharing eating utensils, hugging, kissing, sexual contact, and contact with blood or bodily fluids, or by airborne contact from coughing or sneezing.
Outlook / Prognosis
What is the prognosis (outlook) for children with pediatric systemic scleroderma?
Systemic scleroderma is a chronic (long-term) and slowly developing disease, lasting for months or years. The outlook depends on how much skin is involved and whether or not internal organs are affected.
Children who have lung, heart or kidney problems have the greatest risk for complications, including joint contractures, cosmetic changes and uneven bone growth.
Although systemic scleroderma often does not go away, it can remain at the same level without getting worse for several years.
What are concerns for children living with systemic slceroderma?
Children with systemic scleroderma should live life as normal as possible. They should attend school, play sports, and participate in extra-curricular and family activities. In general, there are no limitations to physical activity children want to do (as long as it is safe). Exercise will help prevent deconditioning, increase muscle strength and muscle endurance.
There is no special diet proven to be effective for scleroderma. Children with scleroderma should eat a healthy well-balanced diet.
Is there supporting groups for systemic scleroderma?
The Scleroderma Foundation is a leading non-profit organization that is dedicated to addressing the needs of adults and children who live with scleroderma in the United States. Many local and national events are organized to educate and connect patients and families.
More information can be found at www.scleroderma.org.