Overview

Scleroderma is a chronic autoimmune connective tissue disease characterized by the hardening and tightening of the skin and, in some cases, involvement of internal organs. The term "scleroderma" means "hard skin," which reflects the most common visible symptom. There are two main types of scleroderma: localized and systemic. Localized scleroderma primarily affects the skin, while systemic scleroderma (systemic sclerosis) can affect the skin, blood vessels, muscles, and internal organs such as the lungs, heart, kidneys, and digestive tract. The severity and progression of the disease vary widely between individuals.

Causes

The exact cause of scleroderma is unknown, but it is considered an autoimmune condition, where the immune system mistakenly attacks the body's own tissues. Several factors are thought to contribute:

• Immune system dysfunction: An overactive immune system causes inflammation and abnormal collagen production, leading to tissue hardening.
• Genetics: A family history of autoimmune diseases may increase susceptibility.
• Environmental factors: Exposure to certain chemicals, such as silica dust or solvents, may trigger scleroderma in predisposed individuals.
• Vascular abnormalities: Damage to small blood vessels plays a significant role in the development of scleroderma symptoms.
• Hormonal factors: Scleroderma is more common in women, suggesting a possible hormonal influence.

Symptoms

The symptoms of scleroderma depend on the type and severity of the disease. Common symptoms include:

• Skin thickening and hardening: Especially on the hands, arms, face, and legs.
• Raynaud’s phenomenon: Fingers and toes turn white or blue in response to cold or stress, due to blood vessel constriction.
• Joint pain and stiffness: Often accompanied by muscle weakness.
• Digestive issues: Heartburn, acid reflux, difficulty swallowing, and bloating are common, particularly in systemic scleroderma.
• Shortness of breath: Occurs if the lungs are affected (interstitial lung disease or pulmonary hypertension).
• Fatigue: Chronic tiredness is a frequent complaint.
• Kidney involvement: Severe cases may lead to kidney crisis with high blood pressure and kidney failure.
• Skin discoloration and ulcers: Dark or light patches and painful sores, especially on fingertips.

Diagnosis

Diagnosing scleroderma involves a combination of clinical evaluation, laboratory testing, and imaging studies:

• Physical examination: Assessing skin changes, joint mobility, and signs of Raynaud’s phenomenon.
• Blood tests: Checking for specific autoantibodies like anti-centromere, anti-topoisomerase (Scl-70), and anti-RNA polymerase III antibodies.
• Nailfold capillaroscopy: Examining tiny blood vessels at the base of fingernails to detect characteristic abnormalities.
• Pulmonary function tests: To evaluate lung involvement.
• Imaging: Chest X-rays or high-resolution CT scans to assess lung fibrosis or pulmonary hypertension.
• Echocardiogram: Used to evaluate heart function and detect pulmonary hypertension.
• Kidney function tests: Monitoring blood pressure and urine tests for early detection of kidney involvement.

Treatment

There is no cure for scleroderma, but treatment focuses on managing symptoms, slowing disease progression, and preventing complications:

• Immunosuppressive medications: Drugs like methotrexate, mycophenolate mofetil, or cyclophosphamide may help reduce immune system overactivity.
• Anti-inflammatory medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) help manage joint and muscle pain.
• Corticosteroids: Used cautiously to reduce inflammation but can increase the risk of kidney complications.
• Vasodilators: Medications such as calcium channel blockers or sildenafil to treat Raynaud’s phenomenon and pulmonary hypertension.
• Proton pump inhibitors: To manage acid reflux and gastrointestinal symptoms.
• Physical therapy: Helps maintain joint flexibility and prevent contractures.
• Skin care: Moisturizers and wound care for skin ulcers.
• Regular monitoring: Ongoing evaluation of lung, heart, and kidney function to catch complications early.

Prognosis

The prognosis for scleroderma varies widely depending on the type and organ involvement:

• Localized scleroderma: Generally has an excellent prognosis, often limited to skin involvement with minimal internal organ damage.
• Systemic scleroderma: Prognosis depends on the severity and speed of disease progression. Some individuals experience mild disease, while others may have significant organ involvement.
• Early diagnosis and treatment: Improve quality of life and reduce the risk of serious complications.
• Lung and kidney involvement: Associated with a higher risk of morbidity and mortality if not managed properly.
• Overall outlook: Many people with scleroderma lead active lives with proper treatment and regular medical care, though some may require ongoing therapy and monitoring.

With advancements in medical therapies and early interventions, outcomes for individuals with scleroderma continue to improve.