Scleroderma

What is scleroderma?

Scleroderma is a chronic autoimmune disease, which means the body’s immune system mistakenly attacks its own healthy tissue. The name comes from Greek words meaning “hard skin,” and hardening or thickening of the skin is the most recognizable feature of the condition. However, scleroderma is more than a skin disease. In many people it also affects blood vessels and, in some forms, internal organs such as the lungs, heart, kidneys, and digestive tract.

The underlying problem in scleroderma is the overproduction of collagen, a protein that normally gives skin and connective tissue its structure. When the body makes too much collagen, tissues become thick, tight, and scarred. Doctors also use the term systemic sclerosis when the disease involves internal organs, and the ICD-10 code M34.9 refers to systemic sclerosis when the exact subtype has not been specified.

There are two broad categories of the disease:

• Localized scleroderma: affects mainly the skin and the tissues just beneath it. It usually does not involve internal organs and is more common in children.
• Systemic sclerosis: affects the skin plus blood vessels and internal organs. It is further divided into limited cutaneous disease (skin thickening mostly on the hands, forearms, feet, and face, often progressing slowly) and diffuse cutaneous disease (more widespread skin involvement that can develop faster and carries a higher chance of internal organ problems).

Scleroderma is uncommon. It most often appears in adults between the ages of 30 and 50, and it affects women considerably more often than men. It can occur in people of any background, although the pattern and severity of the disease can vary between individuals and populations. Because it is rare and its features overlap with other conditions, many people see several doctors before receiving a clear answer to the question “what is scleroderma and do I have it?” The condition is usually managed by a rheumatologist, a physician who specializes in autoimmune and connective tissue diseases.

Symptoms of scleroderma

Scleroderma symptoms vary widely from person to person, depending on the type of disease and which tissues are involved. Some people have only mild skin changes for many years, while others develop symptoms in several organ systems. Common signs and symptoms include:

• Raynaud’s phenomenon: fingers or toes turn white or blue and feel numb or painful in response to cold or stress, then flush red as blood flow returns. This is often the very first symptom and may appear years before other problems.
• Skin thickening and tightening: usually starting on the fingers and hands, sometimes spreading to the arms, face, chest, or legs. The skin may look shiny and feel hard.
• Swollen or puffy fingers: especially in the early stage of the disease.
• Sores or ulcers on the fingertips: caused by poor blood flow; these can be painful and slow to heal.
• Small red spots on the skin (telangiectasias): widened tiny blood vessels visible on the face and hands.
• Calcium deposits under the skin (calcinosis): firm lumps that can sometimes break through the skin.
• Heartburn and swallowing difficulty: the esophagus, the tube that carries food to the stomach, is often affected, causing acid reflux and a feeling that food gets stuck.
• Digestive problems: bloating, constipation, diarrhea, or poor absorption of nutrients if the intestines are involved.
• Shortness of breath or a dry cough: possible signs of lung involvement, either scarring of the lung tissue (pulmonary fibrosis) or high blood pressure in the lung arteries (pulmonary hypertension).
• Joint pain, stiffness, and muscle weakness: which can limit movement, especially of the hands.
• Fatigue: a persistent sense of tiredness that is common in many autoimmune diseases.

Symptoms often differ by disease type and stage. In limited cutaneous systemic sclerosis, Raynaud’s phenomenon may be present for years before skin changes appear, and internal organ involvement, when it occurs, tends to develop slowly. In diffuse cutaneous disease, skin thickening usually spreads more quickly and internal organs, particularly the lungs, heart, and kidneys, may be affected earlier in the course. Early disease is often marked by puffy, swollen fingers and inflammation, while later stages are dominated by skin tightening, contractures (fingers becoming fixed in a bent position), and, in some people, organ scarring. Localized scleroderma, by contrast, typically causes patches or lines of hardened skin without internal symptoms.

A sudden, severe rise in blood pressure with kidney problems, called scleroderma renal crisis, is an uncommon but serious complication that requires urgent medical care. It occurs more often in people with diffuse disease, particularly in the first few years.

Causes and risk factors

The exact scleroderma causes are not fully understood. Researchers believe the disease develops when several factors come together: an immune system that becomes overactive, injury to the small blood vessels, and excessive production of collagen by cells called fibroblasts. The result is inflammation, poor circulation, and scarring (fibrosis) in the skin and sometimes internal organs.

Scleroderma is not contagious. You cannot catch it from another person, and it is not caused by anything you ate or by ordinary lifestyle choices. Known or suspected risk factors include:

• Sex: women are affected much more often than men.
• Age: systemic sclerosis most often begins between ages 30 and 50, though it can occur at any age.
• Genetics: certain genes appear to make some people more susceptible. Scleroderma itself is not directly inherited, but autoimmune diseases in general can run in families.
• Environmental exposures: long-term exposure to silica dust and certain solvents or chemicals has been linked to a higher risk in some studies.
• Immune system triggers: in people who are genetically susceptible, infections or other triggers may set off the abnormal immune response, although no single trigger has been proven.

Because the causes are complex and only partly understood, there is currently no known way to prevent scleroderma.

Diagnosis

There is no single test that confirms scleroderma on its own. Scleroderma diagnosis is usually made by a rheumatologist who combines a careful physical examination with laboratory tests and imaging. Because early symptoms such as Raynaud’s phenomenon and fatigue occur in many other conditions, reaching a diagnosis can take time.

Steps and tests your doctor may use include:

• Medical history and physical examination: the doctor examines the skin for thickening and tightness, checks the fingers for swelling, ulcers, or color changes, and asks about heartburn, breathing problems, and joint symptoms.
• Blood tests: most people with systemic sclerosis have antinuclear antibodies (ANA), which are immune proteins directed against the body’s own cells. More specific antibodies, such as anti-centromere antibodies (more common in limited disease) and anti-Scl-70 (anti-topoisomerase, more common in diffuse disease), help identify the subtype and estimate the risk of certain complications.
• Nailfold capillaroscopy: a painless examination in which the doctor looks at the tiny blood vessels at the base of the fingernails under magnification. Abnormal capillary patterns support the diagnosis and can help distinguish scleroderma-related Raynaud’s from harmless Raynaud’s.
• Skin biopsy: occasionally, a small sample of skin is taken and examined under a microscope, particularly when localized scleroderma is suspected or the picture is unclear.
• Lung tests: pulmonary function tests measure how well the lungs work, and a high-resolution CT scan (a detailed X-ray-based image) can detect lung scarring.
• Heart tests: an echocardiogram (an ultrasound of the heart) screens for pulmonary hypertension and heart involvement; an electrocardiogram (ECG) checks the heart’s rhythm.
• Digestive studies: tests of the esophagus or endoscopy (a camera examination of the digestive tract) may be used when swallowing problems or severe reflux are present.
• Kidney monitoring: blood pressure checks and blood and urine tests help detect kidney involvement early.

Doctors also use internationally accepted classification criteria, developed jointly by American and European rheumatology organizations, which assign points for features such as skin thickening of the fingers, fingertip ulcers, abnormal nailfold capillaries, Raynaud’s phenomenon, specific antibodies, and lung involvement. These criteria help standardize diagnosis, but the final judgment always rests with the treating physician, who considers the whole clinical picture.

Treatment options for scleroderma

There is currently no cure for scleroderma, and no treatment can reliably reverse established scarring. However, scleroderma treatment has improved considerably, and many complications can now be managed effectively, especially when they are found early. Care is tailored to each person, based on the disease type, the organs involved, and how active the disease is. A detailed overview of the condition and its management is available on the scleroderma treatment page.

Monitoring and watchful waiting

For people with mild or localized disease, active drug treatment may not be needed right away. Instead, the doctor may recommend regular check-ups with periodic lung, heart, and kidney testing so that any new involvement is caught early. This careful monitoring is an important part of treatment, not a lack of it.

Medications

No single drug treats all aspects of scleroderma, so medications are chosen to target specific problems:

• For Raynaud’s phenomenon and circulation: vasodilators, medicines that widen blood vessels (such as calcium channel blockers), can reduce the frequency and severity of attacks and help fingertip ulcers heal. Other blood-vessel medicines may be used for severe ulcers.
• For skin and immune activity: immunosuppressive drugs, which calm the overactive immune system (for example methotrexate or mycophenolate), are often used when skin thickening is progressing or the lungs are involved.
• For lung involvement: immunosuppressants and, in some cases, antifibrotic drugs that slow lung scarring may be prescribed. Pulmonary hypertension is treated with specific medicines that lower pressure in the lung arteries.
• For digestive symptoms: acid-reducing medicines (proton pump inhibitors) help control reflux and protect the esophagus; other drugs can improve gut movement.
• For kidney involvement: a class of blood pressure medicines called ACE inhibitors is the standard treatment for scleroderma renal crisis and has greatly improved outcomes for this complication.
• For joint and muscle symptoms: anti-inflammatory medicines and, when needed, low doses of other agents may ease pain and stiffness. High doses of corticosteroids are generally used cautiously in systemic sclerosis because they have been associated with kidney complications.

Physical and occupational therapy

Regular stretching and hand exercises help keep joints flexible and reduce the risk of contractures. Occupational therapists can suggest tools and techniques that make daily tasks easier when the hands are stiff. Skin care, moisturizing, and protection from cold are also part of routine management.

Procedures and surgery

Procedures are reserved for specific problems. Examples include wound care or minor surgery for fingertip ulcers that do not heal, removal of painful calcium deposits in selected cases, endoscopic procedures for severe esophageal narrowing, and hand surgery for disabling contractures. For a small number of people with severe, rapidly progressing disease, specialized centers may consider intensive options such as stem cell transplantation, which carries significant risks and is only appropriate after very careful evaluation. In advanced lung disease, lung transplantation may be discussed in selected patients.

Because scleroderma can involve several organ systems, care usually requires a team approach. The rheumatology department typically coordinates treatment, working together with lung, heart, kidney, digestive, and skin specialists as needed. At Acibadem, this multidisciplinary follow-up is organized through the rheumatology unit.

Living with scleroderma and outlook

The outlook for people with scleroderma varies widely. Many people with localized or limited disease live full lives with manageable symptoms, while those with diffuse disease and significant organ involvement face a more serious course. In general, the prognosis depends most on whether and how much the lungs, heart, and kidneys are affected. With modern monitoring and treatment, many complications that were once life-threatening can now be detected early and managed, although no outcome can be guaranteed.

Practical steps that often help day to day include:

• Keeping warm: wearing gloves and layered clothing, and avoiding sudden cold exposure, to reduce Raynaud’s attacks.
• Not smoking: smoking narrows blood vessels and can significantly worsen circulation problems and lung health.
• Skin care: using moisturizers regularly and protecting the skin from injury.
• Managing reflux: eating smaller meals, avoiding late-night eating, and raising the head of the bed.
• Gentle regular exercise: to maintain flexibility, strength, and overall well-being, as advised by your care team.
• Attending all follow-up visits: regular lung, heart, and kidney checks allow problems to be treated before they become severe.
• Emotional support: living with a chronic, unpredictable illness can be stressful; counseling and patient support groups help many people cope.

Scleroderma is usually a lifelong condition, but its activity can change over time. In some people, skin thickening softens after the first few years. Your medical team can give you the most realistic picture of your individual situation, because outlook depends heavily on your disease subtype, antibody profile, and organ involvement.

Frequently asked questions

What is scleroderma in simple terms?

Scleroderma is an autoimmune disease in which the body makes too much collagen, a structural protein, causing the skin to become thick and hard. In its systemic form, called systemic sclerosis, it can also affect blood vessels and internal organs such as the lungs, heart, kidneys, and digestive tract. It is not contagious and is not a type of cancer.

Can scleroderma be cured or go away on its own?

There is currently no cure for scleroderma, and established scarring generally does not fully reverse. However, the disease does not always progress steadily; in some people skin changes soften over time, and localized forms sometimes become inactive. Treatment focuses on controlling the immune system, protecting the organs, and relieving symptoms, and many people achieve good long-term control with appropriate care.

How serious is scleroderma?

Severity varies greatly. Localized scleroderma is usually limited to the skin and is rarely dangerous. Systemic sclerosis can be serious when it affects the lungs, heart, or kidneys, which is why regular monitoring matters so much. Many people with limited disease have a slowly evolving condition, while diffuse disease often requires closer follow-up, especially in the first few years.

What are the first scleroderma symptoms people usually notice?

For many people, the earliest sign is Raynaud’s phenomenon, in which fingers turn white or blue and feel numb in the cold. Puffy or swollen fingers, tight skin on the hands, heartburn, and fatigue are also common early symptoms. Having Raynaud’s alone does not mean you have scleroderma, since it also occurs in healthy people, but persistent symptoms deserve medical evaluation.

How is scleroderma diagnosed?

Doctors combine a physical examination of the skin with blood tests for specific autoantibodies, an examination of the small blood vessels at the fingernails (nailfold capillaroscopy), and tests of the lungs, heart, and kidneys. There is no single definitive test, so a rheumatologist usually makes the diagnosis by putting all of these findings together using internationally accepted criteria.

What is the best treatment for scleroderma?

There is no single best treatment, because scleroderma treatment is tailored to the organs involved. Doctors may use vasodilators for circulation problems, immunosuppressive drugs for active skin or lung disease, acid-reducing medicines for reflux, and specific blood pressure medicines for kidney complications, alongside physical therapy. Your rheumatologist will design a plan based on your disease type and test results.

Can you live a normal life with scleroderma?

Many people with scleroderma continue to work, care for their families, and stay active, particularly when the disease is limited or well controlled. Life often involves adjustments, such as protecting the hands from cold, managing digestive symptoms, and attending regular check-ups. The impact on daily life depends on the type and extent of the disease, so outcomes differ from person to person.

When to see a doctor

If you have persistent skin thickening, new Raynaud’s phenomenon that starts in adulthood, fingertip sores, or worsening heartburn and swallowing difficulty, arrange a medical evaluation. Early assessment allows organ involvement to be detected and treated sooner.

Seek urgent medical care if you experience any of the following red-flag warning signs:

• Sudden severe headache, blurred vision, or confusion with very high blood pressure — possible signs of scleroderma renal crisis, a medical emergency.
• New or rapidly worsening shortness of breath, especially with chest pain, dizziness, or fainting.
• A finger or toe that turns black, stays blue, or becomes intensely painful — this may indicate critically reduced blood flow.
• A fingertip ulcer that becomes increasingly painful, swollen, or produces pus, or is accompanied by fever, suggesting infection.
• Inability to swallow, vomiting blood, or black tarry stools — possible signs of serious digestive tract problems.
• A marked, sudden drop in urine output or new significant swelling of the legs, which can signal kidney involvement.

If you have already been diagnosed with scleroderma, report any new or changing symptoms to your care team promptly, even between scheduled visits. Early treatment of complications gives the best chance of protecting your organs and preserving your quality of life.