A Focused Approach to Pediatric Connective Tissue Disorders

Understanding Connective Tissue Disorders

The connective tissues of the skeleton consist of cartilage, bone, tendon, muscle and ligaments. These tissues come together to provide shape and strength to the skeleton so it can provide protection, mobility and produce blood. When your child has a connective tissue disorder, the proteins or components that make up connective tissues can be abnormal for several different reasons. In some cases, it is because they become inflamed or irritated. In others, it is because there is a change in a gene that affects the protein. When these connective tissues do not function properly, the organs that they are found in work less effectively and can experience long-term damage.

Connective Tissue Disorders: Why There Are So Many

The body has 78 organs and the skeleton has 206 bones. Connective tissues are found throughout all of these complex structures. In fact, there are more than 200 of these types of connective tissue disorders.

The most common connective tissue disorders include:

Juvenile Rheumatoid Arthritis (RA), also known as Juvenile Idiopathic Arthritis (JIA)

Juvenile rheumatoid arthritis (JRA) is the most common autoimmune connective tissue disorder. In an autoimmune disease, the immune system, which normally attacks foreign invaders like viruses and bacteria, instead starts attacking the body, particularly joints that are made up of tendons, ligaments, cartilage and coverings. Juvenile rheumatoid arthritis can cause pain, swelling, stiffness, limited motion or impaired joint function.

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Scleroderma

Like juvenile rheumatoid arthritis, scleroderma is an autoimmune condition, though much more rare. It causes connective tissues to become hard or thick, which leads to pain or swelling in the joints and muscles. There are 2 main types of scleroderma: localized and systemic. Localized scleroderma tends to impact mostly the skin and joints. Systemic scleroderma is rarer, and can impact both the skin and internal organs, particularly the lungs.

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Systemic Lupus Erythematosus (SLE)

Systemic lupus erythematosus, the most common type of lupus, is a chronic autoimmune disease in which tissue in every organ of the body—such as the brain, lungs, blood and skin—becomes inflamed. This can cause a wide range of symptoms, from headaches and fatigue to swelling and hair loss. Frequently, early signs include joint pain.

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Osteogenesis Imperfecta (OI)

Osteogenesis imperfecta is a genetic disease that is the result of changes in genes that are important to the quality and quantity of collagen in the bone. It causes bones to break easily, even without trauma. It can also cause weak muscles, a curved spine, hearing loss or brittle teeth.

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Ehlers-Danlos Syndrome (EDS)

EDS is actually a group of disorders that results from abnormal collagen which is a major protein that forms connective tissues, such as tendon, ligaments, muscles and bone. It can cause symptoms such as extremely loose joints, weak muscle tone, scoliosis (a curve in the spine), or very fragile skin that easily tears or bruises.

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Marfan Syndrome

Marfan syndrome is a genetic disorder that causes connective tissue to be weaker than normal. It often affects the heart, eyes, blood vessels and skeleton, and can put a child at risk for heart problems. Marfan’s syndrome is present at birth, but may not be detected until later in life.

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Congenital Muscular Torticollis and Torticollis

Congenital muscular torticollis, also called twisted neck, is a condition where an infant is born holding their head tilted to one side. Torticollis is typically noticed when an infant is 6 to 8 weeks old and is more common in firstborn children.

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The Symptoms of Connective Tissue Disorders

Since there are so many different kinds of connective tissue disorders, signs and symptoms vary widely. However, some of the common symptoms of these disorders include:

• Fevers
• Pain, stiffness, or weakness in the muscles and joints
• Delayed motor skills development)
• Bone deformities
• Low energy

However, certain disorders, like rheumatoid arthritis, scleroderma and systemic lupus erythematosus, can sometimes cause serious health problems. For instance, they can create abnormalities in the lungs, causing breathing problems like breathlessness or chronic coughing.

Diagnosing Connective Tissue Disorders

The first step in treating connective tissue disorders is getting the right diagnosis. In some cases, our doctors can diagnose a disorder through a physical exam. Other times, your child might need blood tests, DNA tests or imaging tests such as X-rays, CT scans, or MRIs to confirm a diagnosis.

Treating Connective Tissue Disorders

Treatment for connective tissue disorders not only varies by diagnosis, but is based on your child’s overall health. The treatment team at OIC will work closely with you to design a treatment that is tailored to your child’s specific needs. To learn more about the treatment of a specific connective tissue disorder, click the “Types” tab shown above.