What Is Pediatric Scleroderma?

Pediatric scleroderma is a rare autoimmune disease Pediatric scleroderma is an autoimmune disease that causes inflammation of the skin, triggering an overproduction of collagen, the main structural protein found in skin and other connective tissues. The condition can also affect the joints and internal organs.The condition can also affect the joints and internal organs.

There are two main types of pediatric scleroderma: localized and systemic. Both are uncommon in children with the localized type affecting 1–3 per 100,000 children and the systemic type affecting one per million children. The average age of onset for both types of pediatric scleroderma is between ages 7 and 9.

Keep reading to learn more about the types and symptoms of pediatric scleroderma, how it is different than the adult type, and more.

Types and Symptoms

While pediatric-onset scleroderma shares some similarities to adult-onset scleroderma, there appear to be immunologic differences. One characteristic both conditions share is that they both come in two types.

Localized Scleroderma

Pediatric-onset localized scleroderma (LS) mainly affects the skin, connective tissues, muscles, and bones. LS is also called morphea.

LS usually starts as reddish to purplish patches (called plaques) with normal skin texture and thickness. With time, these patches will start to swell and become hard with yellow or white waxy centers surrounded by a pink or purple halo. If the patches worsen, they become brown in color and then white.

Pediatric LS comes in five different forms, each with its own unique set of symptoms.

Circumscribed morphea: This is the least harmful type of LS, mainly affecting the skin, and sometimes, the tissue just below the skin. Patches are small, few in number, and will only appear on one or two areas of the body.

Linear morphea: This is the most common type of morphea seen in children. It causes long, linear-like plaque areas to appear across the body. These linear patches might travel in the same direction as the arms or legs.

With linear morphea, thickened skin affects underlying bone and muscle tissue, and limits joint motion. It might also affect the scalp or the face causing indented, vertical, and colored skin lines on the forehead or face.

Generalized morphea: This type of LS affects two or more areas of the body—usually the trunk and legs. Plaques can spread and join together.

Bullous morphea: When the skin in LS blisters or bubbles, it is called bullous. Usually, this happens because of trauma to a plaque area or because the normal flow of lymphatic fluid is blocked.

Deep morphea: This is the most harmful form of LS. Fortunately, it is quite rare. Deep morphea affects the tissue just below the skin, including bone and muscle.

Systemic Scleroderma

Also called systemic sclerosis (SS), this type of scleroderma causes widespread thickened skin throughout the body. Widespread skin involvement may lead to limited joint movement and disability. In addition to skin changes, scar tissue will develop on internal organs, including the heart, lungs, kidneys, and gastrointestinal (GI) tract.

SS is also linked to a condition called Raynaud’s phenomenon—a disorder that causes decreased blood flow to the fingers in response to cold or stress. Raynaud's may also affect the ears, toes, nipples, knees, or nose. It affects at least 84% of children with SS.

SS may cause fatigue, joint pain, problems swallowing, shortness of breath, and a variety of GI problems, including abdominal pain, heartburn, and diarrhea. Pediatric SS is also associated with high blood pressure and lung, kidney, or heart problems.

Additional symptoms of SS include:

• Loss of the skin’s ability to stretch
• Decreased hand function due to skin tightening in the hands and fingers
• Enlarged blood vessels in the hands, face, and nail beds—a condition called telangiectasias
• Calcium deposits in the skin or other areas—called calcinosis 
• Sores—usually on the fingertips
• Respiratory problems, including chronic cough and breathing troubles
• Kidney involvement
• Muscle weakness

Pediatric vs. Adult Scleroderma

According to the Scleroderma Foundation, pediatric-onset scleroderma is different than adult scleroderma. One important difference is the prevalence of the two types. Systemic scleroderma is more common in adults, while localized scleroderma is more common in children and teenagers.

Localized scleroderma in children causes extensive skin involvement whereas the adult form causes superficial and generalized plaques.

In addition, children will also have more deep tissue involvement and non-skin symptoms, including joint contractures that affect the movement, limb length and girth discrepancies, skull, scalp, and jaw changes, brain lesions, and neurological symptoms.

Active disease duration of LS is longer in children than in adults—three to five years for adults and seven to 10 years for pediatric scleroderma. With a longer disease duration in children and teens, there is more time for damage, growth and developmental problems, and limb and face symptoms.

With systemic scleroderma, severe disease is less common in children and teens. Organ involvement is also less common. Mortality rates in children and teens with SS are lower than what is seen with the adult type and studies have shown there is a much higher survival rate in pediatric SS, compared to adult-onset disease.

Causes

An exact cause of pediatric scleroderma is unknown. Scleroderma is an autoimmune disease so that means symptoms are caused because the body is attacking its own healthy tissues.

Under normal circumstances, the immune system defends the body against foreign invaders. In pediatric scleroderma, the immune system overacts and triggers the production of too much collagen. Extra collagen is deposited in the skin and organs.

Researchers think scleroderma might also have a genetic component to it. This is because scleroderma sometimes runs in families. It is also more common in certain ethnic groups, including Black Americans, according to the Scleroderma Foundation.

In some people, scleroderma might be caused by environmental triggers, including exposure to viruses and certain medications. Repeated exposure to chemicals and other harmful substances might increase the risk of scleroderma.

Diagnosis

A diagnosis of pediatric scleroderma starts with your child’s healthcare provider (HCP) asking about the child’s health history and family history. The HCP will assess the skin for swelling, tightening, and signs of Raynaud’s phenomenon. They will also look for enlarged blood vessels and calcium deposits in the skin.

If your child’s doctor suspects scleroderma, tests will be ordered to confirm a diagnosis or determine disease severity. Testing may include:

• Blood tests check for elevated blood markers, including antinuclear antibodies, which are found in 90–95% of people with scleroderma. Because these types of antibodies are common with many different types of autoimmune diseases, they are not enough to confirm a diagnosis, but they will be used with other factors to determine if a child or teen has scleroderma.
• Pulmonary function testing measures lung function and to determine if scleroderma has spread to the lungs. An X-ray or computed tomography (CT scan) can check for lung damage.
• An electrocardiogram checks if scleroderma has affected the heart.
• An echocardiogram (ultrasonogram) checks for conditions like pulmonary hypertension or congestive heart failure.
• An endoscopy allows views the esophagus and intestines to determine if scleroderma has caused any GI damage.
• Kidney function tests, including bloodwork, are done to determine whether scleroderma has affected the kidneys.

Treatment

Treatment for pediatric scleroderma will depend on the child’s age, symptoms, general health, and the severity of the condition. 

In general, treatment may include:

• Medications to ease pain and inflammation, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids
• Medications that slow down skin growth and to delay damage to the internal organs, including penicillamine therapy
• Medications to reduce the activity of the immune system cased immunosuppressive drugs, including methotrexate
• Treatment for specific symptoms of the condition, including for treating Raynaud’s phenomenon
• Physical therapy to maintain muscle strength

A Word From Verywell

There is no way to prevent pediatric scleroderma. It is a lifelong condition that will progress over many years. The outlook for children and adolescents with this condition will depend on how much skin involvement there is and whether the internal organs are affected.

Most children and adolescents with pediatric scleroderma can live normal lives. They can attend school, be active, and participate in a variety of activities. They usually don’t have limitations and can participate in any physical activity that is safe.