Scleroderma

Scleroderma is a rare autoimmune disease that primarily affects the skin on hands, but can extend to the elbows and also impacts several organs like the gastrointestinal tract, lungs, heart, and kidneys. Current estimates it’s prevalence to be 17.6 cases per 100,000 people. It has a fairly high mortality rate with over one-third of patients dying after 10 years. Nearly half of the deaths are due to cardiovascular or pulmonary disorders, the most common of which is the development of interstitial lung disease. Scleroderma combines vascular, inflammatory, immunological, and blood coagulation disorders. It is most commonly marked by increased collagen production and puffiness in the fingers.

There are two kinds and two subtypes of scleroderma.

Localized scleroderma normally appears as lesions on the skin in only a few places, generally the hands.

Systemic scleroderma can appear in limited or diffused forms:

Limited: skin lesions in forearms, hands, feet, and face, fibrotic lesions in the lungs and gastrointestinal tract, and early onset of Raynaud’s phenomenon.
Diffused: Raynaud’s phenomenon coexists with skin lesions which extend to the elbows and trunk, and changes to the gastrointestinal tract, lungs, heart, and kidneys.

Scleroderma is marked by skin discoloration or thickening, hair loss, ulcers on fingertips and toes, and tight skin on the face.

Current diagnoses rely upon a points-based test from the American Center for Rheumatology and European League Against Rheumatism, with scores above 9 indicating systemic scleroderma.

Increased collagen production (along with a couple other things) forms a thick and rigid connective tissue that impairs or destroys the tissue’s original function. This production causes the over-activation of the vascular endothelial cells and leads to severe inflammation, mostly in the fingers. The additional pressure on various structures leads to nerve compression and hair loss. After this, the skin hardens and is accompanied by ulcers, scarring and bacterial infections, which can lead to amputation.

No direct cause is known, but it is believed that exposure to certain chemicals may contribute. There is also no standard treatment for scleroderma, and depends largely on the severity of lesions and organs affected. There are two options often considered as the first step for treatment. Immunosuppressants like mycophenolate mofetil and cyclophosphamide are somewhat commonly used to reduce the extent of the lesions. Organ therapy is also commonly considered which protects a specific organ from further damage. Scleroderma presents differently in patients so the organ targeted also varies.

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2025-06-14: Created