Juvenile Systemic Scleroderma - Causes, Symptoms, Diagnosis, and Treatment

Introduction:

Juvenile systemic scleroderma (systemic sclerosis) is an autoimmune disorder that affects children and teenagers, typically beginning before age of 18. It is a rare, chronic condition characterized by the hardening of the skin and other organs and tissues. In juvenile systemic scleroderma (JSS), the body’s immune system mistakenly attacks healthy cells and tissue, resulting in inflammation and scarring. As a result, JSS causes the hardening of the skin, which typically appears first on the face, hands, feet, and abdomen. In addition, individuals with JSS may experience difficulty with joint movement due to stiffness or swelling, gastrointestinal problems such as difficulty swallowing or abdominal pain, and fatigue. Over time, these conditions can worsen, leading to more severe complications.

What Are the Types of Systemic Scleroderma?

Systemic scleroderma is classified into three main types: diffuse cutaneous systemic scleroderma, limited cutaneous systemic sclerosis, and limited systemic sclerosis.

• Diffuse Cutaneous Systemic Scleroderma: The most severe form of systemic scleroderma is characterized by the thickening and hardening of the skin on large body areas. It may also affect other organs, such as the lungs, kidneys, heart, digestive system, and muscles.

• Limited Cutaneous Systemic Sclerosis: It is the most common form of systemic scleroderma. It is characterized by the thickening and hardening of the skin on restricted body areas, usually the hands and face. It may also affect other organs, such as the lungs, kidneys, heart, digestive system, and muscles.

• Limited Systemic Sclerosis: It is a milder systemic scleroderma typically involving organ function. It usually does not causes the thickening of the skin.

What Are the Sign and Symptoms of Juvenile Systemic Scleroderma?

Systemic scleroderma causes symptoms that affect the child’s skin and organs. They may include:

Skin and Tissue Symptoms:

• Swelling and tightening of the skin, with a thick leathery texture.

• Calcinosis, which is calcium deposits in the skin or muscles.

• Ulcers on the fingertips, toes, and other areas of the body.

• Loss of skin’s ability to stretch.

• Reduced hand function due to tightening of the fingers and hand.

• Telangiectasias (enlarged red blood vessels at the skin area of the hand, face, and nail beds).

Organs symptoms:

• Stiffening of the joints can lead to reduced mobility.

• Pulmonary arterial hypertension.

• Raynaud's phenomenon causes coldness, tingling, and pain in the extremities.

• Chronic fatigue due to decreased blood flow.

• Fatigue or tired easily.

• Muscle weakness.

• Organ damage, including kidney, gastrointestinal, and heart.

• Digestive problems include heartburn, difficulty swallowing, diarrhea, and stomach cramps.

Raynaud’s Phenomenon:

Raynaud's phenomenon is when the body's blood vessels contract, leading to decreased blood flow in the extremities. Symptoms include coldness, tingling, and pain in the fingers, toes, and other body areas. Raynaud's phenomenon can be triggered by exposure to cold temperatures or stress, lasting a few minutes to several hours. People living with juvenile systemic scleroderma often experience this phenomenon more frequently.

What Are the Causes of Juvenile Systemic Scleroderma?

Juvenile systemic scleroderma (JSS) is rare when the body's immune system attacks healthy cells. While the exact cause of JSS is unknown, it is believed to be caused by an overactivity of skin connective tissue cells called fibroblasts. These cells produce collagen, a protein that provides structure and strength to the skin and other tissues. When these cells become overactive, they can cause an excessive buildup of collagen in the body, leading to the symptoms associated with JSS. In addition to this overactivity of fibroblasts, other factors such as genetics, environmental exposures, and infections may also contribute to the development of JSS.

How Is Systemic Scleroderma Diagnosed?

The healthcare provider will diagnose juvenile systemic scleroderma based on physical examination, patient history, laboratory tests, and imaging studies.

• Physical Examination: The doctor will conduct a thorough physical examination to look for signs of the condition, such as swelling and skin discoloration.

• Blood Tests: Are used to measure autoantibodies that may indicate systemic scleroderma.

• Imaging Tests: Imaging studies such as X-rays and magnetic resonance imaging (MRI) are used to look for the thickening of the skin and underlying tissues. Sometimes, a skin biopsy may be necessary to confirm the diagnosis.

• Pulmonary Function Tests: such as breathing tests to assess lung function.

• Echocardiography ( Heart Ultrasound): Measures the child's heart function.

• Tests to measure the swallowing function of the esophagus (a tube inserted into the mouth to the stomach).

How to Treat Juvenile Systemic Scleroderma?

When treating juvenile systemic scleroderma, the main goal is managing symptoms and preventing complications. Treatment options for JSS include skin protection, physical therapy, and surgery, and medications.

Skin Protection:

• Protecting the skin is an important part of managing JSS. Skin protection will maximize blood flow to the skin of the hands and feet. It is important to moisturize the skin and avoid sun exposure. Applying sunscreen before going outdoors can help protect the skin from damage. Special dressings or clothing may also help protect the skin.

• Avoid injury to the affected areas, such as fingertips and toes.

• Protect the child’s hands and feet from the cold.

• Avoid smoking or exposing the child to smoke.

• Avoid cold medications that may include pseudoephedrine.

• Avoid using astringents on the body.

• Avoid hard detergents and facial scrubs.

• Use the lotions a healthcare provider prescribes to keep the skin calm and soft.

Physical Therapy: Physical therapy can help improve the range of motion in affected joints and build muscle strength. Physical therapists can also provide exercises that help maintain joint flexibility and decrease pain by improving the blood flow of the affected area.

Surgery: In some cases, surgery may be necessary to treat severe symptoms of JSS. For example, surgery may remove hardened tissue from affected areas, repair damaged tendons or ligaments, or reduce joint stiffness.

Medication:

• Corticosteroids: such as prednisone, are frequently used to treat inflammation in the muscle joints and the skin. However, it is also used to reduce the early stages of internal organ inflammation and decrease the activity of the immune system.

• NSAIDs (Non-Steroidal Anti-Inflammatory Drugs): Ibuprofen and Naproxen are also used to help reduce inflammation and pain in the joint area for children with arthritis.

• Immune Modulator Medication: It is another type of treatment for JSS. These medications help to alter the immune system and reduce its activity, which can help to lessen the severity of symptoms. Immunosuppressive agents, such as Methotrexate, may also be prescribed to reduce the activity of the immune system.

• Medications may also be prescribed to help manage Raynaud’s phenomenon, which is a condition that causes episodes of decreased blood flow to the fingers and toes. Medications such as nifedipine or angiotensin-converting enzyme inhibitors may help improve circulation and reduce the frequency of Raynaud’s episodes.

Conclusion:

Juvenile systemic scleroderma (JSS) is a rare autoimmune disorder that can affect children. The thickening of the skin, connective tissue, and other organ system involvement characterizes it. JSS is a serious condition, but treatment options are available to manage symptoms and improve quality of life. It is important to seek the advice of a qualified physician to determine the best course of action for managing JSS. Treatment may include medications, lifestyle modifications, and physical therapy. With proper care, living with juvenile systemic scleroderma and maintaining a good quality of life is possible.