Scleroderma: Causes, Symptoms, Types, Diagnosis and Treatment

Scleroderma is a rare autoimmune condition that can cause the skin to become unusually thick, hard and tight. But the condition is more complicated than its name suggests. In some people, it affects only the skin. In others, it can affect blood vessels and internal organs such as the lungs, heart, kidneys and digestive tract.

The word “scleroderma” literally relates to hardened skin, but the disease is not simply a skin disorder. It involves changes in the immune system, blood vessels and connective tissue. The body produces excessive amounts of collagen and other connective-tissue proteins, which can eventually cause fibrosis, or abnormal thickening and scarring of tissues.

There is currently no cure that completely eliminates scleroderma. However, treatment has improved considerably, and many people can control their symptoms and reduce the risk of serious complications with appropriate medical care.

What is scleroderma?

Scleroderma is an autoimmune connective-tissue disease in which the immune system becomes overactive and contributes to inflammation, blood-vessel abnormalities and excessive collagen production.

Collagen is an important structural protein that normally provides strength and support to tissues. In scleroderma, too much collagen can accumulate in the skin and, in systemic forms of the disease, in internal organs.

Scleroderma is sometimes called systemic sclerosis, although the terms are not always interchangeable in everyday clinical use. Systemic sclerosis generally refers specifically to the form that can involve multiple organs.

The condition varies enormously from one person to another. Someone with a mild form may have a few areas of hardened skin, while another person may develop significant lung, kidney, heart or digestive complications.

What is the main cause of scleroderma?

The exact cause of scleroderma is not known.

It is believed to develop through a combination of abnormal immune-system activity, genetic susceptibility, blood-vessel dysfunction and environmental factors. Researchers have identified several factors that may increase the risk, but there is no single cause that explains every case.

In simple terms, the immune system appears to become dysregulated. This can cause inflammation and injury to small blood vessels and stimulate fibroblasts, the cells responsible for producing connective tissue. The fibroblasts can then produce excessive collagen, leading to fibrosis and tissue hardening.

So, when people ask about the “major cause” of scleroderma, the most accurate answer is abnormal autoimmune activity leading to excessive collagen production, although the reason that autoimmune process begins remains uncertain.

Scleroderma is not contagious, and it is not caused by something a person has done or eaten.

Are there two types of scleroderma?

Yes. Scleroderma is broadly divided into two major types:

Localized scleroderma

Localized scleroderma primarily affects the skin and tissues immediately beneath it. It usually does not cause the widespread internal-organ problems associated with systemic sclerosis.

Two common forms are morphea, which causes firm patches of thickened skin, and linear scleroderma, which produces bands or lines of hardened skin.

Localized scleroderma can occur in children as well as adults.

Systemic scleroderma

Systemic scleroderma, also called systemic sclerosis, can affect the skin, blood vessels and internal organs.

It is commonly divided into:

• Limited cutaneous systemic sclerosis, where skin thickening is mainly restricted to areas such as the fingers, hands, face, forearms and lower legs.
• Diffuse cutaneous systemic sclerosis, where skin thickening extends more widely and the risk of internal-organ involvement is generally greater.

Diffuse disease can progress more rapidly, particularly during the early years after onset.

What are the first signs of scleroderma?

One of the earliest and most common symptoms of systemic scleroderma is Raynaud’s phenomenon.

The fingers or toes may suddenly become white or pale when exposed to cold or emotional stress. They may then turn blue or purple and eventually become red as blood flow returns. The fingers can feel cold, numb, painful or tingly during an episode.

Other early signs can include:

• Puffy or swollen fingers
• Tight or shiny skin
• Increasing stiffness in the fingers
• Difficulty bending the fingers
• Joint or muscle pain
• Persistent fatigue
• Heartburn or acid reflux
• Difficulty swallowing
• Small red spots on the face or hands
• Skin that gradually becomes harder or less flexible

Not everyone develops all of these symptoms. Raynaud’s phenomenon is common in the general population and does not automatically mean someone has scleroderma.

However, new Raynaud’s symptoms accompanied by puffy fingers, skin tightening, abnormal nailfold blood vessels or autoimmune antibodies deserve medical evaluation.

At what age does scleroderma start?

Scleroderma can develop at almost any age, but systemic scleroderma most commonly begins during adulthood, particularly between approximately 30 and 50 years of age.

Localized scleroderma is more common in children than systemic scleroderma.

Age alone cannot determine whether someone has the disease. A person developing new Raynaud’s symptoms, skin changes or unexplained autoimmune symptoms should be assessed based on their complete clinical picture.

What does a person with scleroderma look like?

There is no single appearance associated with scleroderma.

Some people look completely healthy, particularly during the early stages. Others develop visible changes in their skin and face.

Possible skin findings include:

• Thick, tight or shiny skin
• Puffy fingers
• Hardened skin over the hands
• Reduced flexibility of the fingers
• Areas of lighter or darker skin
• Small visible blood vessels called telangiectasias
• Calcium deposits beneath the skin in some people
• Digital ulcers around the fingertips

In more established disease, the skin may become tight enough to restrict movement.

It is important to remember that the severity of visible skin changes does not always correspond perfectly to the severity of internal-organ involvement.

What are the facial changes associated with scleroderma?

Facial changes can occur when the skin becomes tight and loses some of its normal elasticity.

A person may develop:

• Tighter facial skin
• A smaller mouth opening
• Thinning or tightening around the lips
• Fine lines around the mouth
• Reduced facial movement
• A sharper or more defined facial appearance
• Small red blood vessels, particularly on the face
• Difficulty opening the mouth widely

Dental care is particularly important because restricted mouth opening, dry mouth and changes in the tissues around the mouth can make brushing and dental treatment more difficult.

What organs are affected by scleroderma?

Localized scleroderma generally remains limited to the skin and nearby tissues. Systemic sclerosis can affect several organs.

Lungs

The lungs are among the most important organs to monitor. Some people develop interstitial lung disease, which causes inflammation and scarring of lung tissue.

Others may develop pulmonary hypertension, in which pressure rises in the blood vessels supplying the lungs.

Digestive system

The oesophagus and other parts of the gastrointestinal tract can be affected. Symptoms may include:

• Heartburn
• Acid reflux
• Difficulty swallowing
• Bloating
• Constipation
• Diarrhea
• Poor absorption of nutrients

Kidneys

A serious complication called scleroderma renal crisis can cause a sudden and severe increase in blood pressure and rapid kidney damage.

Heart

Systemic sclerosis may affect the heart muscle and its surrounding tissues. Abnormal heart rhythms, heart failure and other cardiovascular complications can occur.

Because internal-organ involvement may initially cause few symptoms, regular monitoring is an important part of treatment.

How is scleroderma detected?

There is no single test that confirms every case of scleroderma.

Doctors usually combine the person’s symptoms and medical history with a physical examination, blood tests and, when necessary, imaging and organ-function tests.

A rheumatologist is often involved because systemic sclerosis is an autoimmune rheumatic disease. A dermatologist may also be involved, especially when skin symptoms dominate.

What blood tests are positive with scleroderma?

Several autoantibodies are associated with systemic sclerosis. The most important include:

Antinuclear antibody (ANA): ANA is commonly positive in systemic sclerosis, although a positive ANA does not by itself prove that someone has scleroderma.

Anti-centromere antibodies: These are particularly associated with limited cutaneous systemic sclerosis and are commonly linked with the CREST pattern.

Anti-topoisomerase I antibodies (anti-Scl-70): These antibodies are associated with systemic sclerosis and are more often seen in people with diffuse disease and interstitial lung disease.

Anti-RNA polymerase III antibodies: These are another systemic-sclerosis-associated antibody and can be associated with diffuse skin involvement and an increased risk of scleroderma renal crisis.

Other blood tests may be ordered to evaluate inflammation, blood counts, kidney function and other aspects of overall health.

A crucial point is that a positive antibody test does not automatically mean a person has scleroderma. Likewise, laboratory results have to be interpreted alongside symptoms and examination findings.

What tests confirm scleroderma?

There is no single “scleroderma test.”

Depending on the suspected type and symptoms, a doctor may recommend:

• ANA and specific scleroderma antibody testing
• Nailfold capillaroscopy
• Skin biopsy in selected cases
• Pulmonary function tests
• High-resolution CT of the chest
• Echocardiography
• Electrocardiography
• Kidney-function tests
• Urine tests
• Blood-pressure monitoring
• Gastrointestinal investigations when required

Nailfold capillaroscopy can be especially useful when Raynaud’s phenomenon is present because it allows doctors to examine the tiny blood vessels near the fingernails.

The purpose of testing is not only to establish the diagnosis but also to determine whether organs have already been affected.

What is mistaken for scleroderma?

Several conditions can produce symptoms that resemble scleroderma.

These include:

• Rheumatoid arthritis
• Systemic lupus erythematosus
• Mixed connective tissue disease
• Eosinophilic fasciitis
• Scleromyxedema
• Certain skin disorders
• Other connective-tissue diseases
• Some occupational or medication-related conditions

This is one reason diagnosis can sometimes take time. A person may initially present with joint pain, Raynaud’s phenomenon, skin changes or fatigue, all of which can occur in other conditions.

What is the difference between scleroderma and rheumatoid arthritis?

Scleroderma and rheumatoid arthritis are both autoimmune diseases, but they affect the body differently.

Scleroderma is primarily associated with abnormal fibrosis, skin thickening, blood-vessel changes and, in systemic disease, damage to organs such as the lungs, kidneys, heart and digestive tract.

Rheumatoid arthritis, on the other hand, primarily causes inflammation of the joints. It commonly produces persistent joint swelling, pain, stiffness and progressive joint damage.

There can be overlap. A person can have features of more than one autoimmune condition, which is why proper medical evaluation is important.

Can scleroderma be cured?

Currently, there is no cure for scleroderma.

However, saying that there is no cure does not mean that nothing can be done.

Treatment can control symptoms, reduce inflammation, improve circulation, slow some forms of organ damage and manage complications. Early identification of lung, kidney, heart or gastrointestinal involvement can make a major difference to long-term care.

The treatment plan is highly individual because two people with scleroderma can have very different symptoms and levels of organ involvement.

What is the best medicine for scleroderma?

There is no single medicine that is best for everyone with scleroderma.

Treatment depends on which parts of the body are affected.

Doctors may use:

• Vasodilators for Raynaud’s phenomenon and some circulation problems
• Immunosuppressive medicines for certain forms of skin or organ involvement
• Antifibrotic treatment, such as nintedanib, for appropriate patients with systemic-sclerosis-associated interstitial lung disease
• Tocilizumab in selected adults with systemic-sclerosis-associated interstitial lung disease
• Acid-suppressing medicines for reflux and oesophageal symptoms
• Other medicines for gastrointestinal problems, pain, ulcers, pulmonary hypertension or kidney complications

For severe disease that does not respond adequately to standard treatment, specialist centres may consider advanced approaches, including autologous stem-cell transplantation in carefully selected patients.

Treatment decisions should always be made by a rheumatologist or another specialist familiar with systemic sclerosis.

What is the newest treatment for scleroderma?

There is no single new treatment that has replaced all existing therapies.

One of the important advances in recent years has been the development of treatments aimed at slowing lung damage, particularly in systemic-sclerosis-associated interstitial lung disease.

Nintedanib is an antifibrotic medicine that can slow the decline in lung function in appropriate patients. Tocilizumab is another targeted treatment approved for certain adults with systemic-sclerosis-associated interstitial lung disease.

Researchers continue to study additional immune-targeting, antifibrotic and cell-based therapies.

The “newest” treatment is therefore not necessarily the best treatment for an individual patient. The right therapy depends on disease subtype, antibody profile, organ involvement, disease activity and potential medication risks.

How can scleroderma be controlled?

Scleroderma is best managed through a combination of medical treatment and daily habits.

Keeping the hands and body warm can help reduce Raynaud’s attacks. Smoking should be avoided because nicotine constricts blood vessels and can worsen circulation.

Regular physical activity can help maintain mobility, muscle strength and flexibility. Stretching and hand exercises may be particularly useful when joint and skin stiffness develops.

People with digestive symptoms may benefit from eating smaller meals, remaining upright after eating and identifying foods that trigger reflux.

Regular dental care, vaccinations when recommended, skin moisturising and routine medical monitoring are also important.

Perhaps most importantly, follow-up should not stop simply because symptoms improve. Some organ complications can develop with relatively few early warning signs.

What foods make scleroderma worse?

There is no universal scleroderma diet, and no particular food has been proven to cause scleroderma.

However, certain foods can worsen symptoms, particularly acid reflux and digestive problems.

Depending on the individual, potential triggers may include:

• Very spicy foods
• Large or high-fat meals
• Alcohol
• Excess caffeine
• Foods that personally trigger reflux
• Large meals close to bedtime

Rather than unnecessarily eliminating large numbers of foods, it is usually better to identify individual triggers.

People with significant swallowing difficulties, poor nutrient absorption or severe gastrointestinal disease may need personalised dietary advice from a doctor or dietitian.

Is scleroderma life threatening?

It can be, particularly when systemic sclerosis affects vital organs.

However, having scleroderma does not automatically mean that a person has a life-threatening illness.

The prognosis varies substantially depending on the type of scleroderma and the organs involved. Localized scleroderma is generally much less likely to cause life-threatening internal-organ complications.

With systemic sclerosis, the most serious complications can involve the lungs, pulmonary blood vessels, heart and kidneys.

Modern monitoring and treatment have improved outcomes, particularly by allowing doctors to detect complications earlier.

Is scleroderma very serious?

It can be serious, but its severity varies widely.

A person with mild localized disease may experience mainly cosmetic or skin-related problems. Someone with diffuse systemic sclerosis and significant lung, heart or kidney involvement can have a much more serious illness.

This is why doctors focus not only on the amount of skin thickening but also on organ screening and monitoring.

A person with systemic sclerosis may need regular lung-function testing, imaging, heart assessment, blood-pressure checks and kidney tests depending on their individual risk profile.

What are the final stages of scleroderma?

Scleroderma does not have universally defined “final stages” in the way some cancers are described.

Instead, doctors assess the severity and complications of the disease.

In advanced systemic sclerosis, a person may develop severe complications such as:

• Advanced interstitial lung disease
• Pulmonary hypertension
• Heart failure or serious cardiac involvement
• Severe kidney disease
• Significant gastrointestinal dysfunction
• Severe digital ulcers or tissue damage
• Malnutrition or weight loss

Not everyone with systemic sclerosis progresses to these complications.

Early diagnosis and regular screening are important because many complications can be treated more effectively when detected before they become advanced.

How long do most people live with scleroderma?

There is no single life-expectancy figure that applies to everyone with scleroderma.

Studies of systemic sclerosis have reported widely different survival rates depending on the patient population, disease subtype, treatments and duration of follow-up. More recent cohorts generally show better outcomes than older studies.

People with limited disease often have a better prognosis than those with diffuse disease, although limited systemic sclerosis can also cause serious internal-organ complications.

Lung, heart and kidney involvement are among the major factors that influence prognosis. The presence and severity of interstitial lung disease, pulmonary hypertension and cardiac disease are particularly important.

For an individual patient, prognosis should therefore be discussed with the treating rheumatologist rather than estimated from a general survival statistic.

How many people have died from scleroderma?

There is no reliable single worldwide number for deaths caused by scleroderma.

Scleroderma is a relatively uncommon disease, and mortality statistics differ between countries and studies. Death may also be recorded under a specific complication, such as interstitial lung disease, pulmonary hypertension, heart disease or kidney failure, rather than simply being labelled “scleroderma.”

Research consistently shows that serious systemic sclerosis-related deaths are often associated with lung, heart, pulmonary vascular or kidney complications.

Importantly, survival has improved over time as doctors have become better at detecting and treating complications such as scleroderma renal crisis and pulmonary hypertension.

Living with scleroderma

A diagnosis of scleroderma can understandably be frightening, especially when patients read about possible complications involving internal organs.

But the disease is highly variable. Some people experience relatively limited symptoms, while others require ongoing treatment for several organ systems.

The most useful approach is regular medical follow-up, taking prescribed medicines consistently and reporting new symptoms promptly. New or worsening breathlessness, persistent cough, chest symptoms, sudden blood-pressure elevation, severe headaches, reduced urine output, significant swallowing difficulties or worsening fingertip ulcers should not be ignored.

A rheumatologist can coordinate care with pulmonologists, cardiologists, gastroenterologists, nephrologists, dermatologists and other specialists when necessary.

The goal is not simply to treat hardened skin. It is to identify the form of scleroderma, understand how active it is, monitor organs at risk and intervene early when complications appear.

Frequently asked questions about scleroderma

Is scleroderma an autoimmune disease?

Yes. Scleroderma is an autoimmune connective-tissue disease. Abnormal immune activity contributes to inflammation, blood-vessel dysfunction and excessive collagen production.

Is scleroderma contagious?

No. Scleroderma cannot be transmitted from one person to another.

Is Raynaud’s phenomenon always a sign of scleroderma?

No. Raynaud’s phenomenon is relatively common and can occur by itself. However, Raynaud’s combined with puffy fingers, skin tightening, abnormal nailfold capillaries or certain autoantibodies may prompt evaluation for systemic sclerosis.

What is another name for scleroderma?

The term systemic sclerosis is commonly used for systemic scleroderma. However, scleroderma as a broader term also includes localized forms such as morphea and linear scleroderma.

Can scleroderma go away?

Localized scleroderma can become inactive over time. Systemic sclerosis is generally considered a chronic condition, although symptoms and disease activity can change over time. Treatment aims to control symptoms and prevent or limit organ damage.

Which doctor treats scleroderma?

A rheumatologist commonly leads the treatment of systemic sclerosis. Depending on symptoms, other specialists may also be involved.

Can people with scleroderma lead a normal life?

Many people can maintain active and fulfilling lives, particularly when the disease is diagnosed early and complications are monitored carefully. The experience varies considerably according to the type and severity of disease.

Final takeaway

Scleroderma is a complex autoimmune disease that can range from a condition affecting only patches of skin to a systemic illness involving the lungs, heart, kidneys, blood vessels and digestive tract.

The main underlying problem is abnormal immune activity that contributes to excessive collagen production and fibrosis. Early symptoms can be subtle, with Raynaud’s phenomenon, puffy fingers and skin tightening sometimes appearing before more obvious disease develops.

There is currently no cure, but treatment has come a long way. Modern medicines can help manage circulation problems, suppress harmful immune activity, treat gastrointestinal symptoms and slow certain forms of lung disease.

If you notice persistent Raynaud’s symptoms together with skin tightening, swollen fingers, unexplained joint symptoms or other changes suggestive of scleroderma, medical evaluation is worthwhile. Early diagnosis and regular monitoring can play an important role in protecting organs and maintaining quality of life.

To consult a Rheumatologist at Sparsh Diagnostic Centre, call our helpline number 9830117733.

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