Scleroderma

Scleroderma is a rare, long-term (chronic) autoimmune disease that can affect the connective tissue in the skin, joints, and internal organs. An autoimmune disease develops when the body’s immune system mistakenly attacks healthy tissue. In scleroderma, this leads to the overproduction of collagen, an important part of connective tissue. As a result, the skin and other parts of the body with connective tissue scar and become thick.

The exact cause of scleroderma is unknown

The exact cause of the abnormal collagen growth associated with scleroderma is unknown. People who have relatives with scleroderma have an increased risk of developing the condition themselves. This indicates that genes may play a role in the development of the disease. However, many scleroderma patients have no family history. Scleroderma is also most likely to affect women ages 20-50, indicating hormones may also be involved in the disease.

Common scleroderma symptoms

Symptoms of scleroderma vary from patient to patient. Generally, they include your skin thickening or becoming tight. Skin may also appear shiny. This is the most common appearance of scleroderma, regardless of type. The size, color, location, and shape of patches may vary, but they tend to be discolored streaks or ovals on the limbs, face, and abdomen.

Who is at risk for scleroderma?

Couple kayaking on sunlit river

A risk factor is anything that increases your chances of developing a disease.

Scleroderma risk factors include:

  • Environmental exposure. Exposure to certain chemicals, such as polyvinyl chlorides, chlorinated solvents, and silica, may increase the risk of developing scleroderma.
  • Female sex. Females are significantly more likely to develop scleroderma than males.
  • Genetics. There is some evidence that scleroderma is linked to certain genes.
  • Being Native American. Native Americans, particularly people of Choctaw heritage, are at increased risk for developing scleroderma.

 

Types of scleroderma

There are different types of scleroderma, depending on what part of the body is affected.

Localized scleroderma

This is the most common form of scleroderma, and it only affects the skin. It tends to be milder and is more common in children than adults. There are two subtypes of localized scleroderma:

Linear scleroderma. This subtype appears as waxy streaks on the skin. It usually affects the arms, legs, and sometimes the face. It can also affect the fat and muscles underneath the skin.

Morphea. In this subtype, skin thickening results in oval patches of waxy skin. On paler complexions, these patches start off as red or purple before fading to white. On deeper complexions, they may appear as patches of hyper-pigmentation (spots that are darker than surrounding skin) or hypo-pigmentation (spots without pigmentation). These patches develop most often on the belly, abdomen, and back. They can also develop on the face and limbs.

Systemic scleroderma (systemic sclerosis)

This type of scleroderma tends to be more severe than the localized kind. It affects not only the skin but internal organs and blood vessels. This can lead to serious complications, like digestive issues and kidney failure. It is more common in adults than in children. There are two subtypes of systemic scleroderma:

  • Limited scleroderma (CREST syndrome). This is the milder form of systemic sclerosis. It is characterized by the gradual hardening and scarring of tissue on the hands, feet, and face. It also affects internal organs and can damage the lungs, esophagus, and intestines. It is sometimes referred to as CREST syndrome because of its main symptoms:
    • Calcinosis: Small bumps on the fingers caused by calcium deposits.
    • Raynaud’s phenomenon: Condition wherein the fingers and toes become cold and pale in response to stress or temperature. This may be related to scarring or damage to the small blood vessels that feed the fingers and toes, cutting off blood flow.
    • Esophageal dysfunction: Scarring of the esophagus makes it hard to swallow.
    • Sclerodactyly: This refers to the skin of the hands and feet becoming tight, which can make it hard to move.
    • Telangiectasia: The growth of small blood vessels near the surface of the skin. This may be the response to blood vessel damage caused by scleroderma.
  • Diffuse scleroderma (diffuse systemic sclerosis). This type of scleroderma affects large areas of the skin. It often develops more quickly than limited scleroderma. It can also affect the heart, lungs, kidneys, and digestive tract, leading to serious complications.

What are the complications of scleroderma?

Localized scleroderma tends to be a mild disease with few complications.

However, systemic scleroderma often involves essential internal organs. Because of this, untreated systemic scleroderma can have some serious complications, including:

Finger infections or amputations: Raynaud’s syndrome can lead to the development of sores on the fingers and toes. If untreated, these sores could become infected or require amputation.

Heart failure: Systemic scleroderma may cause scarring of the heart muscle. This may lead to an irregular heartbeat, which increases the risk for congestive heart failure.

The heart can also fail because conditions like pulmonary hypertension cause it to wear out.

Pulmonary hypertension: Systemic scleroderma can cause scarring of the lungs and the small blood vessels that supply blood to them.

When this happens, a condition known as pulmonary hypertension (high blood pressure in the lungs) occurs. This prevents oxygen from getting into the blood effectively, leading to symptoms like fatigue and shortness of breath. To compensate, your heart works harder to pump blood.

Scleroderma renal crisis: As with the lungs, scleroderma can lead to increased blood pressure in the kidneys. If kidney blood pressure increases very suddenly and rapidly, this can lead to kidney failure.

Sexual dysfunction: Scleroderma can cause erectile dysfunction or increased vaginal dryness.

Man and Woman in Boat

How is scleroderma diagnosed?

Scleroderma shares symptoms with many other diseases, such as lupus. However, it is a distinct disease and it requires different treatments.

If you are experiencing symptoms of scleroderma, it is important to speak to your doctor. They will begin by asking you about your family and medical history. From there, your doctor may order a few different tests to rule out other conditions or to see the extent of scleroderma’s impact. These tests may include:

Blood tests. No single blood test can tell you if you have scleroderma. However, doctors might check your blood for antinuclear antibodies, as many scleroderma patients have high levels of this specific protein. Also, blood tests can determine if another condition, like rheumatoid arthritis, is causing your symptoms.

Chest x-ray. Your doctor examines an image of the bones and organs in your chest for signs of scarring on the heart muscle.

CT scan. A CT scan uses X-rays and a computer to produce detailed images of different parts of the body. It may be done to check for interstitial lung disease (pulmonary fibrosis), which is scarring of the lungs.

Electrocardiogram (ECG). This test records the electrical activity of the heart and shows abnormal rhythms. This can help your doctor understand how scleroderma has changed your heart.

Gastrointestinal tests, such as an upper endoscope, are used to check for scarring of the esophagus.

Skin biopsy. In this biopsy, a small sample of tissue is removed from an affected area of skin. A specialist then examines this tissue under a microscope to determine the cause of the skin condition.

 

Treatments for scleroderma

Currently, there is no cure for the overproduction of collagen that causes scleroderma. Thus, treatment focuses on managing symptoms and reducing the risk of serious complications.

More invasive treatments, like surgeries, are rarely used for scleroderma. Typically the disease can be managed through a combination of medications, therapies, and lifestyle modifications.

Medication

  • Antibiotic creams or pills to combat skin infections. Some antibiotics can also help food move more quickly through your digestive system, which may help alleviate the digestive symptoms of systemic scleroderma.
  • Immunosuppressants: These medications work by reducing your immune system’s activity. Because scleroderma is an autoimmune disorder, these drugs may help alleviate symptoms.
  • Medications to ease digestive problems: Depending on what part of the digestive tract is impacted, you may need different types of medications.
    • Antacids to reduce heartburn.
    • Proton pump inhibitors and H-2 receptor blockers: these medications reduce the amount of acid your stomach produces, thereby reducing heartburn.
    • Medications for constipation.
    • Antidiarrheal medications.
  • Nitroglycerin cream to relieve skin tightness.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen or aspirin: These drugs work by fighting inflammation directly. This will help alleviate the pain associated with swelling, joint aches, or Raynaud’s syndrome.
  • Steroid creams or pills prescribed to help reduce swelling or skin tightness.
  • Vasodilators: These medications work to widen and relax the blood vessels, improving blood flow and reducing blood pressure. Blood pressure medications are vasodilators taken daily to maintain healthy blood pressure. During a scleroderma renal crisis, a strong, fast-acting vasodilator may be used to reduce blood pressure in the kidneys.

Therapies

Physical or occupational therapy can help scleroderma patients manage pain and remain autonomous in day-to-day life. During therapy, a trained specialist will guide you through exercises that help you gain strength and mobility, learn new ways to move, and become more confident in your body. They can be an important part of your scleroderma care plan.

Physical therapy. This therapy focuses on mobility, strength, pain management, and teaching family members or caregivers how to better support you.

Occupational therapy. This therapy helps you with self-care tasks and home chores, cognitive and visual rehabilitation, physical performance, and fatigue management.

The outlook for scleroderma patients

While scleroderma can have some serious complications, it is generally not a life-threatening disease. Many scleroderma patients live happy, full lives. UCHealth can help you find a treatment and management plan that works for you so that you can get back out into the world.