Early diffuse cutaneous systemic sclerosis (scleroderma)

Systemic sclerosis is an autoimmune disease. The immune system damages small blood vessels and pushes the body to make too much collagen, a tough protein. The extra collagen builds up as scar tissue, called fibrosis, in the skin and sometimes in internal organs.

Doctors describe two main skin patterns. In limited cutaneous disease, thick skin mostly stays on the fingers, hands, face and lower arms and legs, and it comes on slowly. In diffuse cutaneous disease, the skin changes spread more widely and quickly, and internal organs are more likely to be affected.

This page is about early diffuse cutaneous systemic sclerosis, the form in which transplant has been studied most. It is different from localized scleroderma, which affects only the skin and the tissue just under it. Diagnosis combines a physical exam, blood tests and checks of the lungs, heart and other organs.

The exact cause is unknown. Researchers think genes, an overactive immune response, hormones and things in the environment, such as some chemicals, all play a part. No single cause explains why one particular person gets it.

Systemic sclerosis is not passed from parent to child like some genetic diseases. Still, parents, brothers, sisters and children of someone with it have a higher risk than other people.

It is more common in women than in men and usually starts between ages 30 and 50. In the US, it can affect African American people more severely. They tend to get it earlier and are more likely to have more skin involvement and lung disease than other groups.

Raynaud phenomenon is usually the first sign: fingers and toes turn white or blue in the cold or with stress. Skin can become tight and thick, and open sores called digital ulcers can form on the fingers. Tiredness is common, and the hands and joints can become stiff and painful.

Scarring in the lungs, called interstitial lung disease, can cause shortness of breath and a dry cough. High blood pressure in the lungs, heart problems, heartburn, trouble swallowing and bowel problems can also happen. An uncommon but serious kidney problem called renal crisis makes blood pressure rise suddenly to dangerous levels and can quickly lead to kidney failure.

In the early diffuse form, skin and organ changes can move fast. Heart involvement can be silent, with no clear symptoms. That is why regular breathing tests, heart checks and blood pressure checks are part of care.

Care is usually led by a rheumatologist, with lung, heart, kidney, gut and skin specialists as needed. Regular lung-function tests, heart scans and blood pressure checks help catch changes early. Hand therapy, keeping warm, skin care and help with eating and swallowing can make daily life easier.

Before a transplant, the team runs detailed heart and lung tests, which can include a heart MRI and a catheter test of lung pressure. People are also counseled about fertility, because the chemotherapy can cause infertility, and sperm or egg freezing may be offered. Some serious infections remain a concern for up to two years, so medicines to prevent them are recommended during that time.

The disease can come back or keep progressing after a transplant, and some people need more treatment. This can happen even after a good first response. Experts say it needs a specialized center with the right experience and a team from several medical fields.

No donor is needed. The transplant used for systemic sclerosis is autologous, which means it uses the person’s own blood-forming stem cells, usually collected from the bloodstream. There is no registry search and no need for a family match.

A transplant using cells from another person is not a standard treatment for this disease. European transplant guidance (EBMT, 2025) generally does not recommend an unrelated-donor transplant for it, and newer cell therapies such as CAR-T are still being studied. Registry donors help patients with blood cancers and other conditions who need healthy blood-forming cells from someone else.