Autoimmune & Connective Tissue Diseases

Lupus is a chronic autoimmune disease that causes inflammation in the skin, joints, kidneys, heart, and other organs. Lupus most commonly develops in adolescent girls, though boys and younger children can also be affected. The exact cause of lupus is not fully understood, but it is believed to result from a mix of genetic, hormonal, and environmental factors.

Symptoms of lupus in children may include:

• Fatigue and weakness
• Joint pain or swelling
• Butterfly-shaped rash across the cheeks and nose
• Sensitivity to sunlight
• Hair loss
• Fever without an infection
• Mouth or nose ulcers.
• Unexplained weight loss or decrease in appetite.

Diagnosing lupus may include blood tests to detect inflammation, autoantibodies, or kidney function, as well as urine tests to check for protein or blood. Imaging, like X-rays or echocardiograms, may also be used to assess organ involvement.

Treatment focuses on managing symptoms and preventing disease flares. Options often include anti-inflammatory medications, corticosteroids, or immunosuppressants to calm the overactive immune system. Lifestyle adjustments, such as sun protection and nutritional guidance, are also crucial.

Scleroderma, literally meaning “hard skin,” is a rare condition that causes the hardening and tightening of the skin and connective tissues. It can be localized, mainly affecting the skin, or systemic, impacting internal organs and the vascular system. The condition develops when the immune system triggers an overproduction of collagen, causing the tissues to become stiff and thick.

Symptoms of scleroderma in children may include:

• Thickened, shiny, or hardened patches of skin.
• Swelling or stiffness in joints
• Raynaud’s phenomenon (fingers or toes turning white or blue in response to cold or stress)
• Fatigue and general discomfort
• Difficulty swallowing or digestive issues (in systemic scleroderma)

Diagnosis of scleroderma typically involves a combination of physical exams, imaging like X-rays or MRIs, and lab tests such as bloodwork to detect antibodies associated with autoimmune activity. Skin biopsies may also be used to confirm the diagnosis.

Treatment options may include physical therapy to maintain mobility, medications like immunosuppressants or corticosteroids to control inflammation, and therapies to improve circulation or manage specific complications.

Juvenile dermatomyositis (JDM) is a rare autoimmune condition that causes inflammation of the muscles and blood vessels, leading to muscle weakness and skin rashes. While the exact cause of JDM is unknown, some cases have been linked to respiratory and gastrointestinal infections.

Symptoms of juvenile dermatomyositis may include:

• Muscle weakness, often in the shoulders, hips, or neck
• Skin rash, especially on the face, knuckles, or knees (such as a violet-colored or heliotrope rash)
• Difficulty climbing stairs, running, or lifting objects.
• Fatigue and general weakness
• Joint pain or stiffness
• Swallowing difficulties or changes in voice

Diagnosing JDM involves a comprehensive evaluation, including imaging like MRI to detect muscle inflammation and blood testing for specific enzymes. Skin or muscle biopsies may also be performed for confirmation.

Treatment options may include corticosteroids, immunosuppressive medications, or IV therapy to manage the immune system's activity. Physical therapy plays an essential role in helping children regain strength and mobility.

Raynaud's disease affects blood flow to certain parts of the body—most commonly the fingers and toes—due to the narrowing of blood vessels triggered by cold temperatures or stress. This reduced circulation causes temporary changes in color, temperature, and sensation in the affected areas.

Symptoms of Raynaud's disease in children may include:

• Fingers or toes turning white, blue, or red in response to cold or stress.
• Numbness, tingling, or pain in the affected areas
• Cold sensitivity or discomfort
• Swelling or throbbing when normal blood flow returns

Diagnosis often includes extensive bloodwork to rule out autoimmune disorders. CT scans may also be recommended to view blood vessels and capillaries more closely and confirm diagnosis.

Treatment options often depend on the severity of the condition. Mild cases can improve with lifestyle changes, such as keeping hands and feet warm, managing stress, and avoiding triggers. For more severe cases, medications like calcium channel blockers may be prescribed to improve blood flow.

Hypermobility syndrome allows the joints to move beyond the normal range of motion. This can sometimes lead to joint pain or instability. The exact cause of hypermobility syndrome may vary; however, connective tissue disorders like Marfan syndrome or Ehlers-Danlos syndrome may be an underlying contributing factor.

Symptoms of hypermobility syndrome in children may include:

• Joint pain, especially after physical activity
• Frequent sprains or dislocations
• Fatigue after long periods of standing or walking.
• Clicking or popping sounds in the joints
• Difficulty with coordination or balancing

Diagnosis typically involves a physical examination to assess joint flexibility, pain levels, and a review of medical history. For cases where an underlying condition is suspected, genetic testing or imaging studies like X-rays may be recommended.

Treatment often includes physical therapy to strengthen muscles around the joints, pain management strategies, and sometimes the use of braces or orthotics. For children with more severe forms, such as those linked to connective tissue disorders, a specialized care plan may be needed.