What is this systemic sclerosis?

Systemic sclerosis (also sometimes referred to as scleroderma, systemic scleroderma, or CREST syndrome) is an autoimmune sclerosing disease of the skin and the internal organs.  Autoimmune diseases occur when the immune system, which normally protects you from infections and cancer, makes a mistake and begins to attack parts of your body.  Sclerosing means that the tissues become hardened and thickened, somewhat like scar tissue.

Systemic sclerosis (SScl) has three main presentations: limited cutaneous systemic sclerosis, diffuse cutaneous systemic sclerosis and systemic sclerosis sine scleroderma.  All three subtypes have Raynaud’s phenomenon (red, white and blue changes of the fingers associated with temperature changes or strong emotions), positive anti-nuclear antibodies (ANA – a blood test that screens for autoimmune disease) and changes of the blood vessels along the nailfolds in common.

Patients with limited cutaneous systemic sclerosis have skin changes (hardening and tightening of the skin) that are limited to their face and neck, arms below the elbows and legs below the knees.  Limited cutaneous systemic sclerosis gets its name from the amount of skin involvement (i.e. limited cutaneous means limited skin involvement).  Interestingly, the amount of skin involvement can predict what additional organs may be involved (see more below in “complications”).

Patients with diffuse cutaneous systemic sclerosis have skin changes (hardening and tightening of the skin) that extend to the arms above the elbows and legs above the knees.  The face, neck and trunk may also be involved.

Patients with systemic sclerosis sine scleroderma do not have skin changes.  Their fibrosis is limited to internal organs (commonly the lungs, the intestines and the large arteries entering the heart and the kidneys).

What caused my disease?

The cause of systemic sclerosis is currently unknown.  Certain genetic factors appear to be involved, as the risk of developing systemic sclerosis is higher if a family member also has systemic sclerosis.  Environmental factors may also play a role.  Patients who are exposed to silica, solvents and spirits, and certain medications have an increased risk of developing systemic sclerosis.  Having an underlying cancer may also be a trigger for the disease process.

Systemic sclerosis starts out with inflammation.  The inflammation seems to start in the blood vessels and damage the blood vessels.  The damage of the blood vessels causes more inflammation, which results in more tissue (skin and organ) damage, and the formation of autoantibodies (immune proteins targeted against your own body).  The inflammation, damaged blood vessels, and autoantibodies result in sclerosis (scar-like changes) in the skin, organs and blood vessels.

It is also thought that the autoantibodies that are formed have a role in the disease progression.  Patients with limited cutaneous systemic sclerosis are most likely to develop anti-centromere antibodies.  Patients with diffuse cutaneous systemic sclerosis are more likely to develop anti-topoisomerase antibodies (also called Scl-70 antibodies) or anti-RNA polymerase antibodies.  Patients with systemic sclerosis who have muscle inflammation are more likely to have anti-PM-Scl antibodies.

What other complications am I at risk for?

Almost everyone with systemic sclerosis will develop Raynaud’s phenomenon (red, white and blue changes of the fingers that occur with cold exposure).  Sometimes Raynaud’s phenomenon progresses to painful sores on the tips of the fingers.  In severe, uncontrolled Raynaud’s phenomenon the ulcers can progress to loss of the finger tips.

The hardening of the skin in systemic sclerosis may limit joint movements and may make it difficult to open your mouth all of the way.

You may develop red blotches on your skin referred to as telangiectasias.  These are dilated blood vessels.

Myositis (inflammation of the muscles) may also occur in systemic sclerosis patients and may cause weakness and fatigue.

Patients with systemic sclerosis also tend to have involvement of their digestive tract.  Most people have problems with heartburn, because the muscle that attaches the esophagus to the stomach stops working correctly, allowing the stomach acid to enter the esophagus.  Some patients with have involvement of their intestines as well, which can cause bloating, increase belching and gas, pain and cramping, constipation and diarrhea.  In extreme cases patients are not able to absorb food from their digestive tract.

Up to one third of patients will develop sclerosis of the lungs.  This is referred to as interstitial lung disease (ILD).  ILD can cause shortness of breath and coughing.  Patients who have diffuse cutaneous systemic sclerosis are at the highest risk of developing ILD.

Systemic sclerosis can sometimes affect the pulmonary arteries.  The pulmonary arteries delivers de-oxygenated blood (blood that is oxygen poor) from the right ventricle (the large chamber on the right side of the heart) to the lungs where it is oxygenated.  In patients with systemic sclerosis the pulmonary artery can be involved in the sclerosis.  The artery becomes non-flexible because of the scar-like changes within it.  This can make it very difficult for the right ventricle to pump the blood into the pulmonary artery.  The right ventricle can get larger over time as it tries to overcome the resistance of the pulmonary artery.  This process causes problems.  It can lead to tricuspid regurgitation (flowing of the blood backwards in the heart), right heart failure (back up of the blood into the legs) and it decreases the amount of oxygen that can be delivered to the body.  This whole process is referred to as pulmonary artery hypertension (PAH).  PAH most frequently happens in patients with limited cutaneous systemic sclerosis.

Systemic sclerosis can also affect the kidneys, which causes dangerous elevations in blood pressure referred to as “renal crisis.”  Renal crisis is most common in patients with diffuse cutaneous systemic sclerosis.  Taking prednisone (an oral steroid) in doses of 15 mg or more per day increases the risk of renal crisis.

What can I expect?

Every patient with systemic sclerosis is different, which makes predicting additional complications and life span nearly impossible.  Some patients with systemic sclerosis never develop severe involvement of their internal organs and live relatively normal lives.  The skin involvement tends to get better on its own over years.  The skin will soften and become more flexible.  If limitations in movement have occurred due to thickening of the skin around a joint, these unfortunately are usually not reversible.

Changes in life style, activity level and life span are very dependent on not only the type of systemic sclerosis you have, but also the organ involvement that you develop.  Patients with limited cutaneous systemic sclerosis have a 10-year survival estimate of approximately 90%.  However, development of interstitial lung disease (ILD) or pulmonary artery hypertension (PAH) dramatically increases the risk of death.  Patients with diffuse cutaneous systemic sclerosis have a 10-year survival estimate of approximately 75%.  However, development of ILD, PAH, or renal crisis dramatically increases the risk of death.

What can I do to make my skin better/worse and how do I treat the itch?

Patients with limited cutaneous systemic sclerosis do not usually require immune suppression for their skin manifestations.  Patients with diffuse cutaneous systemic sclerosis may require immune suppression, usually in the form of methotrexate or mycophenolate mofetil, for their skin involvement.  If the disease is not rapidly progressive, phototherapy (a type of light treatment) may also be helpful.

Physical therapy may be helpful if the sclerosis crosses the joints.

All patients will have less itching and symptoms if the areas of involvement are kept moisturized.  It is important to find a thick cream that you are comfortable applying twice a day to decrease symptoms.  Thick creams, oils, and vaseline-based products are more effective than lotions (products that are thin and can be poured) at moisturizing the skin.

Sun exposure may be helpful for the skin involvement in systemic sclerosis, but do not over-do it.  Ten to 15 minutes of exposure two to three times per week may improve the thickening and the symptoms of itch.  If you have severe itch, light therapy (also referred to as phototherapy) may be helpful to treat your itch.  Two main type of phototherapy have been found to be helpful for the itch in systemic sclerosis, narrow band UVB and UVA1.  Phototherapy generally requires 2 to 3 visits per week over the course of 2 to 3 months.

Protecting your skin from the cold is extremely important for patients with Raynaud’s, especially in cold weather, and can help prevent sores on the fingers and toes.  In addition, medications that dilate the blood vessels (vasodilators) can help.  Certain dressings are important if you develop sores on your fingers, such as hydrocolloid dressings and bionect, and these can help the sores heal and prevent infection.

Naltrexone, a pill that is an opioid receptor antagonist, has also been found to be helpful in treating itch in some patients with systemic sclerosis

Is my family at risk?

The overall risk of developing systemic sclerosis is very low.  Your family members do have an increased risk of developing systemic sclerosis (because you share genes with them), but their overall risk still remains very low.  Systemic sclerosis is often a sign of an increased risk of autoimmune disease in families.  Your family members may not develop systemic sclerosis, but they may develop other types of autoimmune diseases.  Again, your family’s overall risk of developing autoimmune diseases is still very low.

Other Resources

Mayo Clinic Scleroderma Patient Information



National Institute of Health Scleroderma Information