Juvenile Dermatomyositis

Juvenile dermatomyositis is a rare autoimmune disorder in which the immune system attacks blood vessels throughout the body (vasculopathy), causing muscle inflammation (myositis). Your child may be exhausted by simple, everyday activities, like walking up stairs or lifting a backpack, or he may have trouble keeping up with friends at recess or on the soccer field. Often it is not until the condition appears in the form of a rash around the eyelids or over the knuckles or finger joints that parents seek medical attention.

• Juvenile dermatomyositis affects more children than adults.
• The exact cause of JDM isn’t known, but problems with a child’s immune system are believed to be a factor.
• JDM is rare, affecting only 3,000 to 5,000 kids under age 18 in the United States.
• There’s no typical age when a child first gets the condition, but the average age is 7.
• The disease often begins with nonspecific, general symptoms such as fever, fatigue, and muscle weakness.
• A rash may develop around the eyelids (heliotrope rash), elbows, knees and/or knuckles and finger joints or involve the toes (Gottrons papules).
• In mild cases, a child may recover without any apparent long-term effects.
• Without treatment, a child may have residual muscle weakness, atrophy (wasting of the muscles), or contractures, a condition in which muscles in a particular location may become permanently paralyzed.

The course of juvenile dermatomyositis has historically been divided into four phases:

• Prodromal period: This phase can last for weeks or months. JDM is difficult to diagnose in this phase because the symptoms are so nonspecific.
• Progressive muscle weakness and rash: In this phase, muscle weakness increases for days and weeks and then stabilizes. Once the stabilization occurs, it may last for several years before a child fully recovers.
• Persistent muscle weakness, muscle inflammation, and rash: During this phase, symptoms include persistent muscle weakness, active inflammation of the muscles, and a rash lasting up to two years.
• Recovery: Recovery may occur after two or more years with residual muscle weakness, atrophy, or contractures. Other times, a child recovers without any apparent long-term effects.

Juvenile dermatomyositis can result in calcinosis, calcium deposits under the skin, around the joints, and in the intramuscular facial planes. Mild cases of calcinosis are usually cleared with treatment. In some cases, calcinosis can cause chronic severe pain, joint contractures, fever, and other complications.

Boston Children’s experts have conducted numerous studies of the formation and treatment of calcinosis — specifically early, aggressive treatment — with the goal of uncovering the most effective way to manage it.

Symptoms often appear gradually, although your child may have more acute, or intense, symptoms. Each child may experience symptoms differently, but the most common signs are:

• Fever
• Rash around the eyelids and/or knuckles and finger joints; a rash may also occur on the elbows, knees, and ankles
• Muscle weakness
• Fatigue
• Malaise
• Muscle pain and tenderness
• Irritability
• Weight loss
• Joint pain and inflammation
• Calcinosis
• Mouth ulcers

Symptoms may resemble other medical conditions or problems. Always consult your child's physician for a diagnosis.

Doctors don’t fully understand what causes juvenile dermatomyositis. However, doctors think that certain children have a genetic predisposition to it. Factors thought to be associated with the condition include problems with the immune system that are triggered by environmental factors (which can include an illness and even sunlight). We do know is that a number of factors go into a child’s development of juvenile dermatomyositis, so it’s not caused by just one thing.

In addition to a complete medical history and physical examination, diagnostic procedures may include:

• Laboratory tests used to assess the presence of antibodies, muscle enzymes, and indicators of inflammation in the blood
• Electromyography (EMG): An electrical test to determine nerve or muscle damage
• Muscle biopsy: The removal of a small piece of muscle for microscopic examination
• X-rays: A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film
• Magnetic resonance imaging (MRI): A diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body

We partner closely with families to understand and address any individual, family, or school issues which may arise as we work together to optimize your child's adjustment to the challenges of living with JDM.

If your child has JDM, there are three possible outcomes:

• Continuous disease
• Chronic limitations
• Full remission

The Boston Children's Rheumatology Program has extensive experience in treating juvenile dermatomyositis. Within our program, JDM is the second-most common condition we see to arthritis. Compared to other institutions, which report patients in full remission at about 33 percent, nearly 90 percent of children treated at Boston Children's end up in full remission.

There's currently no known cure for juvenile dermatomyositis, but we've found that using a combination of immunosuppressive therapies can put the disease into remission over time, especially if we work to get the condition under control as early as possible. We aim to get your child into full remission and off medicines over time.

We tailor treatment for your child to the stage of his condition and his body's initial response to treatment. Prescribed treatment methods may include:

• Medications, such as glucocorticosteroids and methotrexate, which treat the inflammatory disorder, and hydroxychloroquine, which treats the skin-related aspect of the condition (dermatomyositis)
• Intravenous therapy
• Physical and occupational therapy to improve muscle function and strength
• Liberal use of sunscreens to prevent further irritation or damage to the skin
• Nutritional support to ensure an adequate diet
• Alternative therapies such as reiki, acupuncture, and massage in order to make your child more comfortable

We aim to put your child’s juvenile dermatomyositis into remission by using supportive therapy and a multidisciplinary team approach to treatment. In 2006, we formed the Dermatology-Rheumatology Center to treat kids with conditions like JDM. This partnership allows us to take advantage of our expertise in both areas.

We specialize in innovative, family-centered care. From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s medical, emotional, and psychosocial needs. Our interdisciplinary team offers your family many avenues of support, including the services of social workers, Child Life specialists, and psychiatric nurses.

Most kids with JDM need to see a rheumatologist regularly. Most children come back to Boston Children's or visit a rheumatologist in their area at least once every other year once they are in remission.

We place great emphasis on ongoing care, and we’ll work with you to establish a relationship with a rheumatologist in your area. The Center for Adults with Pediatric Rheumatic Illness (CAPRI) is a collaborative effort between Boston Children’s and Brigham and Women's Hospital. CAPRI is devoted to the multidisciplinary treatment of adults with childhood-onset arthritic and inflammatory disorders. Specialists from both hospitals collaborate as we transition patients into CAPRI when they reach adulthood, allowing them to see some of the same doctors as they did when they were children.

Researchers in our Rheumatology Program are looking at the results of aggressive treatment for juvenile dermatomyositis as it affects complete remission.

Between 1994 and 2004, 49 children with JDM received standardized therapy with steroids and methotrexate. If a patient's strength or muscle enzyme levels did not improve with this initial therapy, additional medications were quickly added. We then measured how long it took for a child to reach complete remission.

Our findings suggested that aggressive treatment of JDM aimed at achieving rapid, complete control of muscle weakness and inflammation improves outcomes and reduces disease-related complications. In more than one-half of the children whose disease was treated in this manner (28 of the 49), a prolonged, medication-free remission was attained an average of 38 months from the time of diagnosis. We concluded that aggressive management of juvenile dermatomyositis results in improved outcome and decreased incidence of calcinosis.

Some of our other research projects also include studying:

• Aggressive treatment directed at achieving rapid and complete control of muscle inflammation
• The effects of biologic agents on treatment of JDM and other autoimmune conditions.

Boston Children’s is known worldwide for pioneering some of the most effective diagnostic tools, therapies and preventive approaches in pediatric medicine. A significant part of our success comes from our commitment to research — and to advancing the frontiers of health care by conducting clinical trials.

Boston Children’s coordinates hundreds of clinical trials at any given time. Clinical trials are studies that may involve:

• Evaluating the effectiveness of a new drug therapy
• Testing a new diagnostic procedure or device
• Examining a new treatment method for a particular condition
• Taking a closer look at the causes and progression of specific diseases

We are involved in several multi-site clinical trials and studies focusing on pediatric dermatology and rheumatology. While children must meet strict criteria in order to be eligible for a clinical trial, your child may be a candidate for participation in a study. Before considering this option, you should be sure to:

• Consult with your child’s treating physician and treatment team
• Gather as much information as possible about the specific course of action outlined in the trial
• Do your own research about the latest breakthroughs relating to your child’s condition

Taking part in a clinical trial at Boston Children’s is entirely voluntary. Our team will be sure to fully address any questions you may have, and you may remove your child from any medical study at any time.