Scleroderma

Medically Reviewed by Zilpah Sheikh, MD on February 27, 2024
11 min read

Scleroderma is a long-lasting autoimmune condition that can affect your skin, connective tissues, and internal organs. An autoimmune condition is when your immune system mistakenly attacks your own tissues as if they were invaders, such as bacteria. In the case of scleroderma, your immune system causes inflammation and injury to the cells in your blood vessels. The cells in your skin and connective tissues react by making too much of the protein collagen, which forms the structure in your skin, connective tissues, and internal organs.

As a result, your skin gets thick and tight, and scars can form on your lungs and kidneys. Your blood vessels may thicken and stop working the way they should. This leads to tissue damage and high blood pressure.

Scleroderma isn’t contagious or infectious, meaning you can’t get it from other people. There’s no cure, but treatment can ease your symptoms so you feel better.

Systemic sclerosis vs. scleroderma

Systemic sclerosis is also called systemic scleroderma. It's another form of scleroderma that can affect many organ systems in your body. It's more serious than localized scleroderma, which tends to only affect your skin and the structures that underlie your skin, such as fat, ligaments, and tendons.

In addition to affecting your skin, systemic sclerosis may also affect your blood vessels and other internal organs, such as your heart, lungs, and kidneys.

There are two main kinds of scleroderma: localized and systemic. And there are different types of each kind, for instance:

Localized scleroderma mainly affects your skin, but it sometimes affects your bones and muscles. Most people with scleroderma have this kind. There are two kinds of localized scleroderma:

  • Morphea scleroderma. This causes hard, oval-shaped patches on your skin. You usually only have one patch. If you have a light skin tone, they may start as red or purple and then turn whitish in the center. When you have multiple patches, it's called generalized morphea. This form is somewhat rare, but it may be more common in people assigned female at birth (AFAB) and Black people. Rarely, this type can become systemic.
  • Linear scleroderma. This kind causes lines or streaks of thickened skin on your arms, legs, or face. It's a little more common in children. If it's not treated, it can slow the growth and development of your bones and muscles, which may cause functional impairment and disfigurement. If you have it on your face or head, it may also lead to problems with your vision and nervous system.

Systemic scleroderma (systemic sclerosis) can affect organs other than your skin, especially your esophagus (the tube that carries food from your mouth to your stomach), heart, lungs, and kidneys. You may also get open sores or ulcers on your fingers, painful lumps under your skin, or clusters of blood vessels you can see under your skin. It's more serious than localized scleroderma. There are two main types based on the amount of skin that's involved: limited and diffuse.

Limited scleroderma. This comes on slowly and affects the skin of your face, hands, and feet. In rare cases, it can damage your lungs, intestines, or esophagus. It’s sometimes called CREST syndrome . CREST is an acronym that stands for the five typical signs of the condition:

  • Calcinosis, when calcium salts form nodules under your skin or in your organs.
  • Raynaud’s phenomenon, when blood flow is cut off to parts of your body such as your fingers, toes, or nose. Exposure to cold often triggers it. When you have a Raynaud's attack, your fingers and toes may look red, blue, or much paler than your normal skin tone. People with darker skin tones may have a harder time noticing skin color changes, but you may notice that your fingers and toes are very sensitive to the cold. Your skin may easily become tingly or numb when you're in the cold.
  • Esophageal motility dysfunction, when your esophagus doesn’t work the way it should, so you get chest pain, heartburn, or have a hard time swallowing.
  • Sclerodactyly, a thickening of the skin on your fingers and toes.
  • Telangiectasia (pronounced tuh-lang-jee-uhk-tay-zhuh), when small blood vessels widen so you can see them through your skin. Some people also call them called spider veins.

Diffuse scleroderma. This type tends to come on quickly. It causes your skin to get thicker over a larger area of your body than with limited systemic scleroderma. This is usually on your fingers, hands, arms, chest, belly, legs, and face. Your skin may feel itchy and dry because of the tightness, and you may get pain in your bones and muscles. It can also affect your internal organs, such as your heart, lungs, kidneys, mouth, stomach, and intestines.

A third type of systemic scleroderma is called sclerosis sine scleroderma. It's a very rare type in which you may have symptoms of organ damage, but you don't have skin thickening.

Doctors don’t know what causes scleroderma. It’s one of a group of conditions known as autoimmune conditions. Autoimmune conditions can run in families. Some of the factors that may play a part in your development of scleroderma include:

  • Genetics. If your parents, siblings, or children have scleroderma, you have a higher chance of getting it than other people.
  • Exposure to a triggering event. Some triggering events include exposure to certain chemicals, including silica gel, trichloroethylene, welding fumes, and some chlorinated or aromatic solvents. Other triggers include some prescription and recreational drugs, such as bleomycin and other chemotherapy drugs, penicillamine, appetite suppressants, vitamin K, and cocaine.
  • Changes in your immune system. If your immune system mistakenly attacks the cells in your blood vessels, the cells in your skin and connective tissues react by making too much collagen, which can cause the symptoms of scleroderma.
  • Hormones. Like most autoimmune conditions, people assigned female at birth (AFAB) get scleroderma more often than people assigned male at birth (AMAB). Researchers think this may be because of hormone differences between these two groups of people.

Anyone can get scleroderma, but some groups of people have a higher chance of developing it, for instance:

  • It's more common in adults, especially those between 30 and 50 years of age.
  • In the U.S., it's more common in people of African American ancestry than in those of European ancestry. It also tends to be more severe in African American people because this group develops the disease at a younger age and has more skin involvement and lung disease than other groups.
  • It may also be slightly more common in people of Native American ancestry than in those of European or Asian ancestry.

 

The symptoms are different depending on the type of scleroderma you have and how severe it is. However, most people with the condition have skin thickening and a condition called Raynaud's phenomenon. Raynaud's phenomenon causes your fingers and toes to become:

  • Sensitive to the cold
  • Turn pale, then blue when you are cold or feeling stressed out
  • Puffy and stiff

The symptoms of localized scleroderma include:

  • Oval-shaped patches of thick, hard skin. These areas may look yellow and waxy (shiny and smooth), surrounded by a bruise-like edge. They're most common on your hands and face, but they may spread to other areas.
  • Lines of thickened or different-colored skin that may run down your arms and legs or your forehead
  • Fatigue

The symptoms of systemic scleroderma may include:

  • Skin thickening on your fingers, hands, face, lower arms, and shins
  • Hardened or thickened skin that's lighter or darker than your usual skin tone
  • Skin that looks shiny, tight, and smooth
  • Ulcers or sores on your fingertips
  • Small red spots on your face and chest
  • Trouble swallowing
  • Belly cramps and bloating
  • Heartburn
  • Diarrhea
  • Constipation
  • Fatigue
  • Shortness of breath
  • Painful or swollen joints
  • Muscle weakness
  • Dry eyes or mouth (Sjogren's syndrome)
  • Weight loss with no clear cause

If you have any heart attack symptoms, such as chest pain, trouble breathing, or inability to swallow, call 911 or go to the emergency room right away.

End-stage scleroderma symptoms

Systemic scleroderma can cause damage to your internal organs. End-stage scleroderma is what doctors call it when your organs become seriously damaged and begin to fail.

Lung problems are the leading cause of death in people with scleroderma. If it attacks your lungs, it can cause pulmonary hypertension, which is a serious type of high blood pressure in the arteries of your lungs. It can also cause pulmonary fibrosis, which is scarring in your lungs that can make it hard for you to breathe.

Scleroderma may also damage your kidneys and heart, thus causing kidney and heart failure and other problems.

There are no specific tests for scleroderma. But, your doctor may suspect you have scleroderma after a physical exam and asking about your symptom history. Part of your physical exam may include:

  • Checking for thickened and hardened skin areas (they may use a scoring system, such as the modified Rodnan skin score to help them tell how serious your skin symptoms are)
  • Pressing on your tendons and joints to listen and feel for changes that are related to scleroderma
  • Looking at your fingernails underneath the microscope for swollen small blood vessels (nailfold capillary test)
  • Imaging tests, such as ultrasound and computerized skin scoring, to check how your disease develops over time
  • Blood tests to use in antibody testing
  • Upper gastrointestinal tests
  • Lung function tests, including diffusion capacity
  • Heart tests such as an EKG or right heart catheterization

They might also take a small sample of skin (called a biopsy) for a specialist to look at under a microscope.

Scleroderma antibodies

Tests for proteins made by your body called antibodies may also help your doctor diagnose scleroderma and plan your treatment. Some of these antibodies include:

  • Antinuclear antibody (ANA). Many people who have an autoimmune condition are positive for ANA antibodies, and so are most people with scleroderma.
  • Anti-RNA polymerase 3 (Pol 3). It is most often positive in people with diffuse scleroderma. People positive for Pol 3 are at a high risk of getting skin thickening and kidney problems.
  • Anti-topoisomerase (TOPO or anti-SCL-70). It is mostly positive in people with diffuse scleroderma and in those at high risk of developing interstitial lung disease.
  • Anti-centromere antibodies (ACA). These are most often positive in people with limited skin systemic sclerosis and in those who may develop pulmonary artery high blood pressure.

The presence of other antibodies such as anti-fibrillarin, anti-TH/To, anti-U11/U12 RNP, anti-U1 RNP, anti-PM-Sci, and anti-Ku may indicate that you also have another connective tissue disease that overlaps with scleroderma.

Some people with scleroderma have complications depending on what part of their body is affected. Some complications can be serious. Treatment can help lower your risk of complications.

Digestive tract complications:

  • Trouble swallowing, heartburn, and severe acid reflux because your esophagus doesn't work well
  • Slowed stomach emptying
  • Constipation, bowel blocks, or watery diarrhea due to sores in your intestines
  • Red-streaked areas on your stomach (watermelon stomach), slow bleeding, and anemia

Lung complications can be the most serious complication of scleroderma:

  • Shortness of breath or trouble taking deep breaths
  • Dry cough and reduced ability to exercise due to lung inflammation and scarring
  • Chest pain
  • Weakness
  • Fatigue

Kidney complications:

  • High blood pressure
  • Increased amount of protein in your urine
  • A sudden increase in your blood pressure that can cause fast kidney failure (renal crisis due to malignant hypertension)

Heart complications:

  • Chest pain
  • Low blood pressure
  • Heart rhythm problems
  • Swelling in the membrane around your heart (pericarditis) 

Other complications, such as:

  • Feelings of numbness, pain, tingling, or burning in your legs, feet, arms, fingers, and toes that can get worse over time and lead to open sores, especially on your hands.
  • Bone loss (osteoporosis)
  • Underactive thyroid (hypothyroidism)
  • Erectile dysfunction
  • An increased risk of giving birth early or having a baby with low birth weight
  • Depression
  • Malnutrition due to swallowing problems and other digestive problems
  • A higher risk of some cancers, such as lung and esophageal cancers and lymphoma

There is no cure for scleroderma. But your doctor can treat your symptoms and help prevent complications. You will most likely need a combination of treatments. Your doctor will help you find the combination that eases your symptoms and minimizes how much they impact your day-to-day life.

Some common treatments include:

Skin treatments, such as creams and moisturizers, to keep your skin from drying out, and ease tightness and itching.

Immunosuppressants to stop your immune system from damaging your cells and tissues. For instance, immunosuppressive therapy, such as methotrexate, can help control inflammation and prevent tissue scarring and damage. Steroids can help with muscle, joint, or internal organ problems.

Medicines to manage organ-specific symptoms, which include:

  • Anti-inflammatory medicines, such as ibuprofen or aspirin, can reduce swelling and manage your pain.
  • Vasodilators help widen your blood vessels, which may treat Raydaud's phenomenon and some lung problems.
  • Angiotensin-converting enzyme (ACE) inhibitors can help prevent scleroderma-related kidney failure.
  • Heartburn medication, such as proton pump inhibitors and H2 blockers.

Physical therapy to help relieve pain, improve your muscle strength and mobility, and teach you techniques to help you function better in your day-to-day life.

Light therapy (phototherapy) to help treat thickened skin.

Stem cell transplants for people with severe symptoms to help replace damaged blood cells with healthy cells.

Organ transplants for people with severely damaged organs.

Scleroderma can impact your life in many ways. In addition to following your doctor's treatment plan, here are a few things you can do to manage your symptoms, for instance:

  • Follow a diet and exercise plan that's healthy for you.
  • Eat small, frequent meals. After you eat, stay upright for 3 hours and try to avoid slouching.
  • Eat moist, soft foods, and chew them well. If your doctor recommends a specific diet, follow that.
  • Avoid caffeine, alcohol, and tobacco.
  • Drink plenty of water and stay hydrated.
  • Rest and avoid intense physical activity when you don't feel well.
  • Avoid cold or wet environments, if you can, to help control Raynaud's symptoms.
  • Protect your skin by wearing the right clothes for your environment and sunscreen when you're outside. Treat dry, itchy skin with lotions and moisturizers.
  • Visit your dentist regularly for cleaning and checkups.
  • Create a support network of friends and family.
  • Improve your stress and mental health through counseling or group therapy.

Scleroderma is an autoimmune disease that affects your skin, connective tissue, and internal organs. There are different types of scleroderma, and it can range from mild to severe. There is no cure for scleroderma, but your doctor can help come up with a combination of treatments that can make you feel better and self-care that you can do at home to make living with it easier.

What is the life expectancy of a person with scleroderma?

The way scleroderma affects people varies depending on what type they have and how severe it is, so it's hard to give a general life expectancy. People with localized scleroderma generally have the same life expectancy as the general population. People with limited and diffuse scleroderma may have shorter life spans than the general population, but with improvement in treatments, life expectancy is getting better. For instance, kidney disease used to cause a lot of mortality in people with scleroderma; however, medicines such as ACE inhibitors, enalapril, and lisinopril, have decreased the number of people who die from kidney problems.

Is scleroderma considered a terminal illness?

Not usually. You will need to manage your illness and symptoms for the rest of your life, but localized scleroderma generally has a good life expectancy. Systemic scleroderma is a very serious medical condition that can cause serious complications, but life expectancy gets better over time with improving treatment options.