Scleroderma means hard skin. Systemic sclerosis is a rare autoimmune disease in which small blood vessels are damaged and the body lays down too much collagen, which thickens the skin and can scar internal organs, above all the lungs, gut, heart and kidneys. A separate form, localised scleroderma or morphoea, affects only patches of skin.
The course differs greatly. The limited form progresses slowly over many years, while the diffuse form can advance quickly in the first 3 to 5 years. There is no cure, but treatment directed at each affected organ and regular screening for lung and heart involvement have improved outcomes considerably.
Symptoms
- Raynaud's phenomenon, often the first sign by several years
- Puffy fingers followed by tight, shiny skin on the hands and face
- Painful fingertip ulcers or small pitted scars
- Heartburn and difficulty swallowing
- Bloating, constipation or diarrhoea
- Breathlessness on exertion or a dry cough
- Small red spots of dilated vessels on the face and hands
- Hard calcium lumps under the skin
- Joint stiffness and tendon friction
Causes and risk factors
The cause is unknown. A combination of genetic susceptibility and an environmental trigger sets off autoimmunity, injury to small vessels and overactive scar-forming cells. Exposure to silica dust and certain solvents increases the risk. Women are affected about four times as often as men, usually between the ages of 30 and 60. Specific autoantibodies predict the pattern: anticentromere with limited disease and pulmonary hypertension, anti-Scl-70 with lung fibrosis, and anti-RNA polymerase III with rapid skin thickening and kidney crisis.
How it is diagnosed
- Clinical examination with skin score: Skin thickness is scored at 17 sites using the modified Rodnan score. Classification criteria combine this with other features.
- Autoantibodies: ANA and a panel of scleroderma-specific antibodies.
- Nailfold capillaroscopy: Shows the characteristic enlarged and lost capillary loops.
- Lung function tests and high-resolution CT: Done at diagnosis to detect interstitial lung disease. Lung function is repeated every 3 to 12 months.
- Echocardiogram, NT-proBNP and right heart catheterisation: Yearly screening for pulmonary arterial hypertension, with catheterisation to confirm it.
- Blood pressure and kidney tests: Home blood pressure monitoring is advised in early diffuse disease.
- Gut tests: Endoscopy or manometry as symptoms require.
Treatment options
- Treatment of Raynaud's and finger ulcers: Calcium channel blockers, sildenafil, iloprost infusions and bosentan.
- Immunosuppression: Mycophenolate, methotrexate, cyclophosphamide, rituximab or tocilizumab for progressive skin or lung disease.
- Antifibrotic therapy: Nintedanib for progressive interstitial lung disease.
- Pulmonary hypertension medicines: Endothelin antagonists, PDE5 inhibitors and prostacyclins, often used in combination.
- Management of the gut: Proton pump inhibitors, medicines that improve motility, antibiotics for bacterial overgrowth and nutritional support.
- ACE inhibitors for renal crisis: Started immediately when it occurs. High-dose steroids are avoided because they can provoke it.
- Autologous stem cell transplant: For selected patients with rapidly progressive diffuse disease. It improves outcomes but carries a real risk of treatment-related death, and belongs only in experienced centres.
- Physiotherapy and hand therapy: To maintain movement and hand function.
When it is urgent
A sudden rise in blood pressure with headache, blurred vision or reduced urine may be scleroderma renal crisis and needs emergency care the same day. Rapidly worsening breathlessness, chest pain or fainting, or a finger that turns black, are also emergencies to be handled where you are.
Travelling to Türkiye for treatment
Scleroderma requires lifelong shared care with a local rheumatologist. A trip can provide a thorough baseline or yearly assessment in one week, covering capillaroscopy, the antibody profile, CT, lung function, echocardiogram and review by an experienced team. That is valuable if such expertise is scarce where you live. A course of iloprost or a planned procedure can also be arranged. Long-term immunosuppression needs blood monitoring at home, so agree the plan with your own doctor before starting. Treat offers of stem cell therapy from non-transplant clinics with great caution.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
Frequently Asked Questions
What is the difference between limited and diffuse disease?
In the limited form the skin changes stay below the elbows and knees and on the face, with slower progression. The diffuse form also involves the trunk and upper limbs and carries earlier organ risk.
Can the skin soften again?
Yes. In many patients the skin softens to some degree after the first few years, with or without treatment.
Is the stem cell transplant the same as commercial stem cell injections?
No. It is an intensive hospital procedure with chemotherapy and return of your own blood stem cells. Commercial stem cell injections are unproven.
Can I become pregnant?
Often yes when the disease is stable, with planning, adjustment of medicines and high-risk obstetric care.