Juvenile Systemic Scleroderma

What is juvenile systemic scleroderma?

Juvenile systemic scleroderma (systemic sclerosis) is a condition that causes your child’s skin to become unusually thick and hard. It may also cause symptoms that affect their organs. Systemic means that the condition affects your child’s entire body.

Systemic scleroderma is an autoimmune disease. This condition causes your child’s immune system to attack their body’s healthy cells. Scleroderma creates inflammation (swelling) in the skin. The swelling triggers an overproduction of collagen cells, a protein that gives tissues support and contributes to your child’s flexibility. Too much collagen causes fibrosis, or scarring, in your child’s skin.

What are the types of systemic scleroderma?

There are three types of systemic scleroderma, which include:

• Diffuse cutaneous systemic sclerosis: Symptoms include hardening of the skin and problems with organ function throughout your child’s body.
• Limited cutaneous systemic sclerosis (CREST syndrome): CREST is an acronym for symptoms of the condition, including calcinosis (calcium deposits under the skin), Raynaud’s phenomenon (difficulty managing body temperature), esophageal motility dysfunction (heartburn), sclerodactyly (thick finger skin) and telangiectasia (enlarged blood vessels).
• Limited systemic sclerosis (systemic sclerosis sine scleroderma): A condition that affects organ function but doesn’t cause the skin to thicken.

Who does juvenile systemic scleroderma affect and how common is it?

Juvenile systemic scleroderma can affect anyone of any age or sex, but it’s rare in early childhood. The term “juvenile” means that the condition affects children. There are about 5,000 to 7,000 children with scleroderma in the United States. Only 2% of all people with scleroderma develop the disease before age 10, and 7% develop it between ages 10 and 19.

What are the symptoms of juvenile systemic scleroderma?

Juvenile systemic scleroderma causes symptoms that affect your child’s skin and organs. Children with systemic scleroderma also typically experience Raynaud’s phenomenon.

Skin and tissue symptoms

Symptoms of systemic scleroderma that affect your child’s skin and tissues include:

• Loss of the skin’s ability to stretch.
• Decreased hand function (skin tightens on the fingers and hands).
• Enlarged red blood vessels seen at the skin on the hands, face and around the nail beds (telangiectasias).
• Calcium deposits under the skin or in other areas (calcinosis).

Initially, the skin of the hands and feet appear swollen (bigger). Over time, your child's skin tightens and hardens and may appear to have ridges, depressed areas or small pits.

Organ symptoms

Systemic scleroderma affects your child’s internal organs and could cause symptoms that include:

• Joint inflammation with stiffness and pain.
• Sores (ulcers), mostly on the fingertips.
• Digestive problems like heartburn, trouble swallowing, diarrhea, stomach cramps.
• Respiratory problems like a chronic cough or difficulty breathing.
• Kidney problems that lead to hypertension.
• Fatigue or easily becoming tired.
• Muscle weakness.

Pain isn’t usually severe, so it’s common for children to have scleroderma without knowing about it.

Children diagnosed with systemic sclerosis should see their healthcare provider often to check for high blood pressure and lung, kidney, gastrointestinal and heart problems.

Raynaud’s phenomenon

Raynaud’s phenomenon causes white, blue and red color changes to your child’s fingers and/or toes when they're exposed to cold or stress. This condition is present early in the disease’s course and may be a sign of systemic sclerosis.

Other symptoms of Raynaud’s phenomenon include:

• Fatigue.
• Joint pain.
• Difficulty swallowing.
• Abdominal pain.
• Heartburn.
• Diarrhea.
• Shortness of breath.

What causes juvenile systemic scleroderma?

The exact cause of juvenile systemic scleroderma is unknown. Research suggests an injury to the cells that line blood vessels, which then over-activates the skin’s connective tissue cells (fibroblasts), causes the condition. Fibroblasts produce proteins that include collagen, and a buildup of collagen causes symptoms of systemic scleroderma.

What causes my child’s skin to become hard?

With systemic scleroderma, too much collagen in your child’s tissues causes their skin to become hard. The immune system helps defend the body against infection or illnesses. For children diagnosed with scleroderma, their immune system overreacts and defends itself from their body’s healthy cells. This causes your child’s cells to produce too much collagen (protein). The extra collagen deposits in your child’s skin and organs and causes hardening and thickening (similar to the scarring process).

How is systemic scleroderma diagnosed?

Your child’s healthcare provider will diagnose systemic scleroderma based on several 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.

What tests diagnose systemic scleroderma?

Lab tests help eliminate other conditions that are similar to systemic scleroderma, assess how active scleroderma is and determine if there are organs other than the skin involved. Testing for autoimmune proteins can help determine the course of the condition. Rarely do physicians perform a skin biopsy.

Additional tests for systemic scleroderma include:

• Blood tests to measure autoimmune proteins and kidney function.
• X-ray to show changes in your child's 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 your child's lungs are working properly.
• Echocardiography (ultrasound of the heart) to look at how your child's heart is functioning.

Who diagnoses juvenile systemic scleroderma?

Your child's healthcare provider might team up with a rheumatologist (arthritis/autoimmune specialist) or dermatologist (skin specialist) and other specialists that are experts in specific areas of the body (GI tract, heart, lungs and kidneys) to diagnose, monitor and treat systemic scleroderma.

How is juvenile systemic scleroderma treated?

The objective of systemic scleroderma treatment is to stop inflammation, keep the condition from getting worse and prevent internal organ involvement.

Skin protection

Protecting the skin will help maximize blood flow to the skin, hands and feet, especially for children who have Raynaud's phenomenon. Tips to protect your child’s skin include:

• Avoid injury to the affected areas, especially the tips of their fingers and toes.
• Protect your child's hands and feet from cold. Keep rooms at a warm temperature and have your child wear an extra layer of clothing in the winter, as well as a hat with earmuffs, 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 exposing your child to smoke.
• Avoid cold medications that include pseudoephedrine.
• Protect your child from excess sun exposure, and use sunscreens as recommended.
• Avoid using astringents, body or facial scrubs or harsh detergents on your child's skin.
• Use lotions as prescribed by your child's healthcare provider to keep your child's skin soft.

Physical therapy

Basic stretching and guided exercise programs with physical and occupational therapists help your 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). Your provider might recommend splints if necessary.

Surgery

In rare cases, orthopedic hand or cosmetic surgery may be necessary to correct severe joint or skin deformities or scars. Before surgery, the condition must be in remission (not active) for several years.

Your child's healthcare provider might consider autologous bone marrow transplantation as a treatment option. Other treatments are currently under investigation.

What medications treat systemic scleroderma?

Your child’s healthcare provider might recommend different medicines to treat their diagnosis, including:

• Corticosteroids to decrease inflammation in muscles, joints and in the skin itself. Steroids can also help treat the early stages of internal organ inflammation. Generally, steroids don’t work in the later fibrotic 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. Care should be placed to not overuse NSAIDs in the setting of renal dysfunction.
• Other immune modulator medications to lessen the autoimmune system’s response and to prevent inflammation and subsequent scarring that can occur.
• Medications that dilate blood vessels and improve blood flow to treat Raynaud's phenomenon.

How can I prevent juvenile systemic scleroderma?

There's no way to prevent systemic scleroderma because the cause is unknown.

What can I expect if my child has systemic scleroderma?

There's no cure for scleroderma, but you can help your child manage their condition.

Systemic scleroderma is a chronic (long-term) and slowly developing disease, lasting for months or years. Your child's outlook depends on how widespread their symptoms are and how much of their body (especially their skin and internal organs) is involved.

Children with lung, heart or kidney problems have the greatest risk for complications, including joint contractures and changes to their physical appearance (cosmetic changes). The condition can affect your child’s bone growth.

Although systemic scleroderma often doesn’t go away, it can remain at the same level without getting worse for several years.

How long can you live with juvenile systemic scleroderma?

The life expectancy for a child diagnosed with systemic scleroderma varies based on the severity of their condition, especially if it affects their organs.

How do I take care of my child diagnosed with systemic scleroderma?

Children with systemic scleroderma should live life as normally as possible. They should attend school, play sports and participate in activities. In general, there are no limitations to the physical activities children can do (as long as they're safe). Exercise will help prevent deconditioning and increase muscle strength, flexibility and endurance.

When should I see my child’s healthcare provider?

Your child should visit their provider regularly for checkups, especially to monitor for signs and symptoms that affect their internal organs. If your child experiences severe pain, has difficulty moving parts of their body or has symptoms that affect their day-to-day life, visit their provider immediately.

What questions should I ask my doctor?

• How severe is my child’s diagnosis?
• How do I help protect my child’s skin at home?
• How often should my child go to physical therapy?
• What signs or symptoms of disease progression should I be looking out for?
• Does my child need surgery?

What are the different types of scleroderma?

There are two types of scleroderma that are different from the types of systemic scleroderma. These types include:

• Localized scleroderma: This form of scleroderma affects the skin in only some areas of the body and may or may not spread to underlying muscles or bones. It rarely involves internal organs.
• 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 may 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.

A note from Cleveland Clinic

Although systemic scleroderma targets your child’s entire body, you can make efforts to preserve your child’s ability to have a normal childhood whenever possible. As your child’s caregiver, make sure to stay up to date on checkups to monitor your child’s diagnosis and treatment. If your child has trouble moving, playing or participating in activities, talk to your child's healthcare provider.