What is juvenile localized scleroderma?

Scleroderma is a condition in which the skin becomes unusually thick and hard. The word scleroderma comes from two Greek words: “sclera,” meaning hard, and “derma,” meaning skin.

Scleroderma is an autoimmune disease in which the person’s immune system causes inflammation in the skin. The inflammation can trigger connective tissue cells to produce too much collagen, a fibrous protein that is a major part of many tissues. Excess collagen can lead to fibrosis, which is like scarring.

Juvenile localized scleroderma refers to disease that affects children. The term "localized" means that it mainly involves the skin, connective tissue, muscle and bone (unlike systemic sclerosis, which can affect organs deep inside the body). Females are slightly more likely to have the disease than males. Another name for localized scleroderma is morphea.

What causes juvenile localized scleroderma?

The exact cause of juvenile localized scleroderma has not been found. Patients who have localized scleroderma are born with genetic (inherited) factors to have an overactive immune system. However, not all patients with these genetic predisposition develop the disease. In some patients, some environmental trigger kicks off a response in the immune system that causes localized scleroderma. These possible triggers include infection, trauma or certain drugs.

What are the symptoms of juvenile localized scleroderma?

Juvenile localized scleroderma usually begins as red-to-purplish patches with normal skin texture and thickness. Over time, the patches become hard and swollen, with a whitish or yellowish waxy center surrounded by a pinkish or purplish halo. In late stages, the affected areas become brown and then white.

There are five different types of localized scleroderma, each with its own symptoms:

• Circumscribed or plaque morphea: This is the least harmful of the morphea types. It mainly affects the skin, and occasionally the tissue just under the skin. The plaques are small, few in number, and appear on only one or two areas of the body.
• Linear morphea: This is the most common type of morphea in children. Long plaques appear in lines across the body or traveling in the same direction as the arms and legs. The thickened skin can affect underlying bone and muscle and limit the motion of the joints and muscles. This can cause limb defects, poor growth and disabilities. If the face or scalp are affected, the condition is known as "en coup de sabre" (because it looks as if the person has been struck by a sword). En coup de sabre appears as an indented, vertical, colorless line of skin on the forehead.
• Generalized morphea: In this condition, there are four or more plaques affecting two or more areas of the body (usually the trunk and legs). Individual plaques may spread and join one another.
• Bullous morphea: When the skin blisters or bubbles, it is said to be bullous. This condition can occur because of some type of trauma at the site of the plaque, or because the normal flow of lymphatic fluid is blocked.
• Deep morphea: This is the most harmful form, but is very rare. It usually occurs in the tissue just under the skin (including muscle and bone).

How is juvenile localized scleroderma diagnosed?

The diagnosis is mainly made by careful physical examination and recognizing the atypical appearance of hard skin.

Further tests and imaging can be done to confirm the diagnosis and determine deeper structure involvement, including:

• Skin biopsy at the lesion
• Infrared thermography to measure temperature differences between normal skin and the lesion. This can help determine abnormal areas of tissue growth.
• A computerized skin score, which uses scanned images of skin lesions over time to measure their dimensions
• Ultrasound to measure blood flow through the tissues and depth of lesions
• Magnetic resonance imaging (MRI) to measure the depth of lesions

Not all children will need all these tests.

How is juvenile localized scleroderma treated?

Treatment of juvenile localized scleroderma depends on how severe the disease is. The goal of treatment is to stop the inflammation, keep the disease from getting worse and reduce the formation of fibrous tissue. The available treatments have very little effect on the fibrous (scar) tissue once it is formed. The fibrous tissue is the end stage of the inflammation. Once the inflammation has gone, the body is capable of reabsorbing some of the fibrous tissue and the skin can soften again.

Treatment usually lasts 2-3 years and includes some combination of the following options:

• Corticosteroids: topical cream, oral or intravenous drugs.
• Topical cream: calcipotriene (Dovonex®), tacrolimus (Protopic®, Prograf®), pimecrolimus (Elidel®), and imiquimod (Aldara®, Zyclara®)
• Immunomodulating agents: methotrexate (Otrexup®, Rasuvo®), mycophenolate mofetil (CellCept®, Myfortic®)
• Skin creams containing lanolin to help relieve dryness and itching
• Phototherapy using ultraviolet (UVV/UVB) rays to help soften plaques. This must be done carefully, as it can prematurely age the skin or lead to skin cancer.
• Physical therapy and massage to improve muscle strength and maintain joint mobility

Can juvenile localized scleroderma be prevented?

There is no known way to prevent juvenile localized scleroderma. It is not contagious: you cannot get scleroderma by shaking hands, hugging, kissing, sexual contact, contact with blood or bodily fluids, sharing eating utensils, or by airborne contact from coughing or sneezing. Scleroderma is not passed down along family lines.

What is the prognosis (outlook) for patients who have juvenile localized scleroderma?

Juvenile localized scleroderma often affects only skin tissues and does not harm major organs. It may get better or go away on its own. At some point, the hard skin may soften and only hyperpigmented (darkened) areas may persist. Old lesions can recur (come back), or new skin lesions can develop. Localized scleroderma rarely transforms into the more serious systemic sclerosis.

Some patients may end up with hardened skin, while others may suffer damage to the skin or limbs. Surgery may be necessary if the disease was not well-controlled when the patient was younger, and if there are deformities in the bones or face. Surgery should not be done until the child has finished growing and the disease is inactive. Juvenile localized scleroderma does not reduce a person's life expectancy.

Children with morphea should live as normal a life as possible. They should attend school, play sports and take part in extracurricular and family activities.

In general, there are no specific limitations to physical activity children want to do (as long as it is safe). Exercise does no harm to children who have morphea; in fact, it helps prevent deconditioning and increases muscle strength and muscle endurance.

There is no special diet that has been shown to be effective for morphea nor worsen the condition. Therefore, children with morphea should eat a well-balanced healthy diet.

Is there a support group for people who have juvenile localized scleroderma?

The Scleroderma Foundation (https://www.scleroderma.org) is a non-profit organization 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 family.