Scleroderma (systemic sclerosis)
An autoimmune connective-tissue disease in which the body lays down too much collagen, thickening and tightening the skin and, in the systemic form, scarring internal organs such as the lungs, kidneys and gut. Raynaud's phenomenon is often the first sign; care focuses on protecting organs.
What it is
Scleroderma means 'hard skin', and it describes a group of autoimmune conditions in which the immune system, small blood vessels and connective tissue are all disturbed, driving excess collagen and scarring (fibrosis). There is a localised form limited to the skin, and a systemic form (systemic sclerosis) that can also affect internal organs. In systemic sclerosis, the earliest and most common sign is usually Raynaud's phenomenon — the fingers turning white then blue in the cold — often years before other features. The skin becomes thickened and tight, first as puffy fingers and then hardening over the fingers, hands and sometimes the face and trunk. Small blood vessels are damaged, and internal organs can be scarred: the lungs (interstitial lung disease and raised lung-artery pressure), the gut (reflux, swallowing and motility problems), the heart, and the kidneys (a dangerous rise in blood pressure called scleroderma renal crisis). It is more common in women. Antibodies help classify it: a positive ANA is usual, anti-Scl-70 is linked to the diffuse form and lung risk, and anticentromere antibodies to a more limited form. There is no cure, but treatments target the affected organs and complications, and monitoring is central to care.
Key lab markers
- ANA — usually positive; the screening autoantibody.
- Anti-Scl-70 (anti-topoisomerase I) — specific for scleroderma; linked to diffuse disease and lung risk.
- Anticentromere antibody — associated with the more limited form.
- Creatinine and kidney function, with blood pressure — to detect scleroderma renal crisis.
- Lung function tests and imaging — for interstitial lung disease (not blood tests, but central to monitoring).
- Inflammatory markers (ESR, CRP) — may be raised.
Symptoms
- Raynaud's phenomenon (fingers turning white/blue in the cold), often the first sign
- Thickening and tightening of the skin, starting with puffy fingers
- Skin changes over the fingers, hands and sometimes the face
- Heartburn, reflux and difficulty swallowing
- Breathlessness (from lung involvement)
- Joint pains and stiffness
- Small dilated blood vessels on the skin and fingertip sores
Related symptoms
Related lab panels
When to discuss with a doctor
Scleroderma should be considered when Raynaud's phenomenon appears alongside skin thickening, puffy fingers, reflux or breathlessness, particularly with a positive ANA — this warrants referral to a rheumatologist. Because the danger lies in the internal organs, people with systemic sclerosis need ongoing monitoring of the lungs, heart and kidneys, and a sudden rise in blood pressure (a possible renal crisis) or new breathlessness needs prompt attention. New Raynaud's on its own, especially starting later in life or with ulcers on the fingertips, is worth checking. Mediora.AI can surface the ANA and scleroderma-antibody pattern and flag kidney-function changes from your results, but diagnosing systemic sclerosis and managing its organ risks is specialist care, led by a rheumatologist.