Scleroderma

Scleroderma is a chronic autoimmune disease that causes hardening and tightening of the skin and, in many cases, affects internal organs and blood vessels. The body's immune system triggers an overproduction of collagen, leading to fibrosis (thickening and scarring of tissue). It comes in two main forms: localized scleroderma (affects skin only) and systemic sclerosis (affects skin and internal organs).

Skin: Tight, shiny, or thickened skin (especially fingers, hands, face); Swelling or puffiness; Limited mobility of fingers or joints; Raynaud's phenomenon (fingers turn white or blue when cold or stressed). Internal: Heartburn or acid reflux; Difficulty swallowing (esophageal issues); Shortness of breath (lung involvement); High blood pressure (especially in lungs); Fatigue or weakness; Kidney dysfunction (in severe cases).

Exact cause is unknown, but scleroderma is autoimmune in nature: The immune system attacks connective tissue; Triggers excess collagen production, leading to scarring and thickening; Likely influenced by genetics and environmental factors. Risk factors: Women (4x more likely than men), Age 30-60, Family history of autoimmune disease, Exposure to certain chemicals.

Blood tests: ANA (positive in >90% of patients), Anti-centromere antibodies, Anti-Scl-70 (topoisomerase I) antibodies; Skin biopsy (may confirm fibrosis); Imaging (e.g., CT scan for lung involvement); Pulmonary function tests; Echocardiogram or kidney tests.

No cure, but symptoms and complications can be managed: Immunosuppressants (e.g., mycophenolate mofetil, methotrexate); Blood pressure meds for Raynaud's or kidney crisis; Proton pump inhibitors for acid reflux; Physical and occupational therapy for mobility; Regular monitoring of lungs, heart, and kidneys.

Localized scleroderma often improves or stabilizes over time. Systemic sclerosis varies - some people live normal lives, while others may have serious complications. Early detection and monitoring are critical. Lung, heart, or kidney complications can be life-threatening.

Affects about 240 per million people in the U.S. More common in women aged 30-60. Rare in children.