Scleroderma

What is scleroderma?

Scleroderma is a rare condition that makes your body produce tissue that’s thicker than it should be. Scleroderma usually affects your skin, but can cause symptoms in any tissue throughout your body.

Scleroderma is an autoimmune disorder. Autoimmune disorders happen when your immune system accidentally attacks your body instead of protecting it. Experts don’t know why your immune system turns on you. It’s like it can no longer tell the difference between what’s healthy and what’s not — between what’s you and what’s an invader like bacteria or a virus.

If you have scleroderma, your immune system triggers your body’s cells to produce too much collagen (a protein). Your body needs collagen to have strong, healthy connective tissue to support your organs and hold parts of your body in place. But when you produce too much of it, your skin and other tissue can be thicker and more fibrous than they should be.

Scleroderma is a chronic condition, which means you’ll need to manage your symptoms for a long time (maybe the rest of your life). It can also cause life-threatening complications if it affects tissue in your organs. Call 911 (or your local emergency services number) or go to the emergency room if you feel like you’re having a heart attack, can’t breathe or can’t swallow.

Visit a healthcare provider if you’re experiencing symptoms like pain and stiffness in your joints, especially if you notice thickened skin around your fingers and toes.

Types of scleroderma

Healthcare providers classify scleroderma into two main types:

Localized scleroderma: Localized means concentrated in one area. Localized scleroderma only affects one part of your body (usually your skin). It causes thick patches or streaks on your skin that feel waxy. Localized scleroderma can get better (resolve) on its own. It usually doesn’t spread to other parts of your body.

Systemic sclerosis: Systemic sclerosis can affect other organs, in addition to your skin. It can affect parts of your respiratory system (the organs that help you breathe and smell) and your digestive system (the organs that help you turn foods and drinks into energy). Scleroderma is more likely to cause serious complications if it affects your ability to breathe or process nutrition. It can be fatal. Systemic sclerosis has three subtypes — diffuse, limited and sine sclerosis.

Diffuse sclerosis

Diffuse means spread out widely. Diffuse sclerosis causes thickened skin over larger areas at once, including your:

• Chest.
• Abdomen.
• Thighs.
• Arms.
• Legs.
• Face.

It can also affect multiple organs at once, including your:

• Digestive system (GI tract).
• Kidneys.
• Heart.
• Lungs.

Limited sclerosis (CREST syndrome)

Healthcare providers usually refer to limited scleroderma with the acronym CREST syndrome. Each letter in CREST stands for a symptom it causes:

• Calcinosis (extra calcium deposits in your skin).
• Raynaud’s syndrome (color changes and numbness in your fingertips and toes).
• Esophageal dysfunction (difficulty swallowing and acid reflux).
• Sclerodactyly (tight skin on your fingers).
• Telangiectasias (red or discolored spots on your skin).

Sine sclerosis

Sine sclerosis causes limited sclerosis symptoms, but doesn’t affect your skin. You may have any CREST syndrome symptoms but not experience any thickened skin.

How common is scleroderma?

Scleroderma is rare. Experts estimate that all types of scleroderma affect around 250 out of every 1 million people in the U.S. Around 100,000 people in the U.S. have systemic scleroderma.

What are scleroderma symptoms?

Some people with early scleroderma don’t have any symptoms. The most common scleroderma symptom is having patches or streaks of thickened, waxy skin. Other common symptoms include:

• Joint pain.
• Stiffness (especially when waking up in the morning).
• Fatigue (feeling extremely tired all the time).
• Unexplained weight loss.

Which other symptoms you experience (and where they affect you) depends on which type of scleroderma you have.

Localized scleroderma symptoms

People with localized scleroderma usually only experience skin thickening. The thickened skin can be isolated to one specific area or appear in patches. It can affect skin on your:

• Chest.
• Abdomen (the area around your stomach).
• Arms and legs (your limbs).
• Hands and fingers.
• Feet and toes.

It’s rare for localized scleroderma to affect your internal organs.

Systemic sclerosis symptoms

Systemic scleroderma can cause lots of symptoms. It causes thickened skin, usually in larger areas and patches, including on your face and hands. Thick skin usually appears on your fingers or toes and then spreads toward the center of your body. If you have Raynaud’s syndrome, the skin on your affected fingers and toes may change color when they’re exposed to cold (usually white, reddish or purple).

Systemic sclerosis can also cause symptoms in other organs and tissue, like your:

• Muscles: Numbness and swelling, especially in your hands and feet (your extremities).
• Joints: Stiffness, swelling and loss of mobility (how easily you can move your joint).
• Lungs: Coughing and shortness of breath (dyspnea).
• Digestive tract: Difficulty swallowing (dysphagia), heartburn, bloating, constipation and diarrhea.
• Heart: Abnormal heartbeats (arrhythmia), fluid buildup around your heart (pericardial effusion) and fibrosis (thickened heart muscle).
• Kidneys: Kidney failure (which can be life-threatening).
• Genitals: Erectile dysfunction (ED) and vaginal dryness.

What causes scleroderma?

Experts don’t know for sure what causes scleroderma.

Some studies have found that it can run in families (meaning biological parents can pass it on to their children), but this is rare enough that there’s no definite proof it’s a genetic disorder.

Scleroderma risk factors

Anyone can develop scleroderma, but some groups of people have a higher risk:

• People assigned female at birth (AFAB) are four times more likely than people assigned male at birth (AMAB) to develop scleroderma.
• People 30 – 50 years old — it’s rare for people younger than 30 to have scleroderma.
• Black people are more likely to have scleroderma, usually develop it earlier and are more likely to experience symptoms that affect their lungs. They also usually have more severe skin symptoms.

What complications can scleroderma cause?

People with scleroderma are much more likely to have two other conditions: Raynaud’s syndrome and Sjögren’s syndrome.

Reynaud’s syndrome affects small blood vessels in your fingers and toes (your digits). People with it have episodes of symptoms (sometimes called attacks). It makes blood vessels in your digits suddenly tighten (contract) more than they should. This can make the skin in your affected digits turn pale or lighter than your natural skin tone. They might also look bluish.

Sjögren’s syndrome makes your body produce less moisture in certain glands — usually the salivary glands in your mouth and the glands in your eyes that produce tears. Some people with Sjögren’s syndrome experience muscle and joint pain, too.

Some types of scleroderma can cause severe complications, including:

• Kidney failure.
• Pulmonary hypertension (high blood pressure in the arteries that carry blood from your heart to your lungs).
• Pulmonary fibrosis (scarring in your lung tissue).
• Cardiovascular disease (issues that affect your heart and blood vessels).
• Congestive heart failure.
• A weakened immune system (immunodeficiency).
• Gastrointestinal diseases (conditions that affect how your body processes food and absorbs nutrition).
• Cancer.

Some of these complications can be fatal. Visit a healthcare provider as soon as you notice any new or changing symptoms. Call 911 (or your local emergency services number) or go to the emergency room if you think you’re experiencing a heart attack or feel like you can’t breathe or swallow.

How is scleroderma diagnosed?

A healthcare provider will diagnose scleroderma with a physical exam and some tests.

You might need to visit a rheumatologist, a healthcare provider who specializes in treating autoimmune disorders. They’ll examine your body and ask you about your symptoms. Tell your provider which symptoms you’re experiencing, when you first noticed them and if anything seems to make them worse.

You’ll also need a few tests to rule out other conditions that cause similar symptoms.

What tests do healthcare providers use to diagnose scleroderma?

Diagnosing scleroderma is usually part of a differential diagnosis. This means your provider will probably use a few tests to determine what’s causing your symptoms before ruling out other conditions and diagnosing you with scleroderma. Some tests you might need include:

• Blood tests to see how well your immune system is working.
• Pulmonary function tests to show if your lungs or respiratory system are affected.
• Biopsy to remove a sample of your affected skin or other tissue for testing in a lab.
• Endoscopy (looking inside your throat or stomach with a tiny camera attached to a long, thin tube) if you’re experiencing gastrointestinal (GI) symptoms.

You’ll probably also need a few imaging tests to take pictures of the inside of your body, including:

• Electrocardiogram (ECG).
• Echocardiogram (Echo).
• A chest X-ray.
• A computed tomography (CT) scan.

How is scleroderma treated?

There’s no cure for scleroderma, but your healthcare provider will help you find a combination of treatments that manages your symptoms and minimizes how much they impact your daily routine.

Which treatments you’ll need depends on where you’re experiencing symptoms and how severe they are. Some common scleroderma treatments include:

• Skin treatments: You might need creams and moisturizers to prevent your skin from drying out.
• Immunosuppressants: Immunosuppressants stop your immune system from damaging healthy cells and tissues.
• Medicines to manage specific symptoms: For example, you might need medication to manage your blood pressure, improve your breathing, manage kidney failure or relieve gastrointestinal symptoms.
• Physical therapy: A physical therapist will help you improve how your body physically moves.
• Light therapy (phototherapy): Light therapy uses bright, focused UV light to treat skin conditions. It can help treat thickened skin.
• Stem cell transplants: Some people with severe symptoms might need a stem cell transplant. A stem cell transplant helps your body replace damaged blood cells with healthy donor cells.

Can I prevent scleroderma?

Because experts don’t know what causes it, there’s no way to prevent scleroderma.

What can I expect if I have scleroderma?

You should expect to manage scleroderma and its symptoms for the rest of your life. Even though there’s no cure, most people find treatments and lifestyle tweaks to minimize how much their symptoms impact their day-to-day lives.

Living with a chronic condition can be extremely frustrating. Ask your healthcare provider about additional resources like support groups or educational opportunities to help you manage stress and your mental health.

How can I take care of myself?

In addition to your regular treatments, you might be able to manage some of your symptoms by making some changes in your daily routine, including:

• Following a diet and exercise plan that’s healthy for you.
• Avoiding intense physical activity when you’re not feeling well.
• Protecting your skin with the right clothing for your environment and wearing high-quality sunscreen when you’re outside.
• Visiting a dental care provider for regular cleaning and checkups.

When should I see my healthcare provider?

Scleroderma can cause so many different symptoms that it’s sometimes hard to notice at first. Visit a healthcare provider if you notice any new pain or other symptoms, especially if they’re getting worse. Even if something else is causing your symptoms, a provider will diagnose the cause and suggest treatments to manage them.

Talk to your provider if you feel like your scleroderma treatments aren’t working as well or if your symptoms are changing or getting worse — especially if they affect your ability to breathe or swallow.

When should I go to the ER?

Call 911 (or your local emergency number) or go to the emergency room if you’re experiencing heart attack symptoms like chest pain, trouble breathing or you feel like you can’t swallow.

What questions should I ask my healthcare provider?

• Do I have scleroderma or another condition?
• Which type of scleroderma do I have?
• Which treatments will I need?
• Which complications should I keep an eye out for?

What is the life expectancy of a person with scleroderma?

Most people with scleroderma don’t experience life-threatening complications.

You have a higher risk of severe complications if you have systemic scleroderma that affects your internal organs. Your healthcare provider will tell you what to expect and if you have an increased risk of fatal complications.

Is scleroderma a serious disease?

Any chronic condition is serious, including scleroderma. That’s because you’ll probably have to manage symptoms for the rest of your life. However, that doesn’t mean scleroderma will control your life. No two people’s experiences are the same. Share your concerns or worries with your healthcare provider.

A note from Cleveland Clinic

Scleroderma can be a very frustrating condition to live with. Because experts aren’t sure what causes it and there’s no one treatment that works for everyone, it might take time to find treatments that manage your symptoms well. Your healthcare provider will help you at every step of the process.

Trust your instincts and your body if something feels “off.” Even subtle changes in your symptoms can be a sign of an issue your healthcare provider should examine. Don’t be afraid to ask them questions or share concerns about your symptoms or treatments.

Living with a chronic condition can be exhausting. Take time to give yourself credit and recognition for all the hard work it takes to manage your symptoms.