What Is Scleroderma?

Scleroderma is a chronic, autoimmune connective tissue disease that causes changes in the skin, blood vessels, and internal organs due to excess collagen production. While there are different types of scleroderma, each with its own set of symptoms, the most visible manifestation of this disease is skin hardening and tightening. Organs, such as the lungs, kidneys, heart, and digestive tract, may also be affected. There is no cure, but a combination of self-care strategies and medications can help ease symptoms and prevent complications.

Scleroderma Symptoms

There are two main types of scleroderma. Localized scleroderma is limited to skin involvement, while systemic sclerosis involves affects blood vessels and internal organs, in addition to the skin. This article will focus mostly on systemic sclerosis (also known simply as scleroderma).

Localized Scleroderma

Localized scleroderma primarily affects only the skin and is seen mostly in children.

Symptoms may include:

• Morphea: Discolored, hard plaques on the trunk, arms, and legs
• Linear scleroderma: Streaks of thickened and abnormally colored skin that often affects the arms, legs, and forehead

Systemic Sclerosis

Systemic sclerosis is divided into two subtypes: limited cutaneous and diffuse cutaneous.

Limited Cutaneous Systemic Sclerosis

In limited cutaneous systemic sclerosis, skin thickening/tightening is usually restricted to certain areas of the body, mostly the hands and face. A subtype of limited cutaneous systemic sclerosis called CREST syndrome is based on the characteristic symptoms that give it its name.

 Symptoms of CREST syndrome:

• Calcinosis cutis: Calcium deposits underneath the skin
• Raynaud's phenomenon: When fingers and toes turn a white or bluish color in response to cold or stress
• Abnormal movement of the Esophagus, the tube that connects your mouth to your stomach
• Sclerodactyly: Thick, tight, and shiny skin on fingers or toes that results from an overproduction of collagen
• Telangiectasias: Dilated blood vessels that cause small, red spots on hands and face

Diffuse Cutaneous Systemic Sclerosis

Diffuse cutaneous systemic sclerosis causes more extensive skin thickening and tightening, often involving the trunk and moving beyond the hands to above the wrists. Internal organs, such as the lungs, kidneys, heart, and digestive and musculoskeletal systems, are also commonly affected.

For example, joint and muscle pain and swelling of the hands are common in the early stages of scleroderma.

When scleroderma affects the kidneys, a rare but severe complication, called scleroderma renal crisis, may develop. This causes malignant high blood pressure along with kidney failure.

Scleroderma-related heart problems may manifest as abnormal heart rhythms or congestive heart failure.

Interstitial lung disease (scarring of the lung tissue) is more common with diffuse scleroderma, and pulmonary arterial hypertension (high blood pressure in the arteries of the lung) is more common in the limited form. Lung complications are the leading causes of death in systemic sclerosis.

Causes

Scleroderma results from abnormalities within three different systems or tissues of the body:

• Immune system
• Small blood vessels
• Connective tissues

What causes these abnormalities remains largely unknown. Experts suspect that a combination of genetics and exposure to environmental factors could be involved. Environmental exposures that have been evaluated include certain toxins (e.g., polyvinyl chloride, benzene, and silica) or infections with a virus or parasite.

Diagnosis

No single test serves as a definitive diagnosis for scleroderma. A combination of findings from a medical history, physical examination, and various studies are used to diagnose this disease.

History and Physical Examination

You should discuss any symptoms with your healthcare provider. For example, you might notice a change in the physical appearance of your face, which could be due to skin hardening and tightening. Or you might be experiencing digestive problems, like acid reflux and swallowing.

Your healthcare provider may notice stiff joints, enlarged blood vessels on your face and hands (telangiectasias), and calcium deposits on your fingers or along certain tendons. Your hands may appear puffy, or you could have excoriations (evidence of skin picking) and scabs due to itching that's caused by inflammation beneath the skin.

Raynaud's phenomenon is one of the earliest signs of disease in systemic sclerosis. It presents with a triphasic change- white (or blue) discoloration, followed by redness when blood flow returns, then back to normal skin color.

Keep in mind, though, that there are other causes besides scleroderma, which will need to be considered. Raynaud's phenomenon may also occur on its own, meaning it's not associated with any underlying disease process.

Your healthcare provider may refer you to a rheumatologist, which is a physician who specializes in the diagnosis and treatment of connective tissue diseases.

Blood Tests

Various blood tests can support a diagnosis of scleroderma.

The vast majority of people with scleroderma are positive for the anti-nuclear antibody (ANA). In addition, the anti-topoisomerase I (anti-Scl-70) antibody is associated with diffuse cutaneous systemic sclerosis; the anticentromere antibody (ACA) is associated with limited cutaneous systemic sclerosis.

Because scleroderma may affect your kidney function, your healthcare provider may also order urine tests and a blood test called the basic metabolic panel (BMP).

Imaging and Other Tests

Imaging and other tests are used to evaluate for internal organ involvement in scleroderma:

Examples of these tests include:

• Skin biopsy
• Chest X-ray
• Computed tomography (CT) scan
• Pulmonary function tests (PFTs)
• Esophageal manometry and/or upper endoscopy
• Echocardiogram
• Electrocardiogram (ECG)

Treatment

There is no cure for scleroderma. In other words, there is no medication that can stop or reverse the skin from hardening and thickening. However, through a combination of self-care strategies and medications, many symptoms of scleroderma can be managed and some complications can be prevented.

Here are some examples of how various symptoms/complications are treated in scleroderma.

Raynaud's Phenomenon

Keeping the whole body warm (not just your hands and feet) by wearing a hat and multiple layers is important for managing this symptom.

Medications, such as calcium channel blockers or phosphodiesterase type 5 (PDE-5) inhibitors, may also be used.

Digestive Problems

Along with lifestyle and diet changes, medications to control acid reflux, like the proton pump inhibitor Prilosec (omeprazole), can be helpful.

For problems swallowing related to scleroderma, the drug Reglan (metoclopramide) can provide some relief.

Kidney Disease

Angiotensin-converting enzyme (ACE) inhibitors are medications used to treat kidney problems related to scleroderma. Captopril, a short-acting ACE inhibitor, is considered first-line for treating renal crisis.

Lung Disease

The medications Cytoxan (cyclophosphamide) or CellCept (mycophenolate mofetil) are used to treat interstitial lung disease.

For people with symptomatic pulmonary arterial hypertension, a variety of medications may be given including:

• Endothelin receptor antagonists: e.g., Flolan (epoprostenol), Remodulin (treprostinil), or Ventavis (iloprost)
• Prostanoids and prostacyclin analogs: e.g., Flolan (epoprostenol), Remodulin (treprostinil), or Ventavis (iloprost)

Muscle and Joint Problems

Muscle and joint pain from scleroderma may be treated with a combination of physical and occupational therapy and medication, like a nonsteroidal anti-inflammatory drug (NSAID).

And they are also treated with disease-modifying anti-rheumatic drugs (DMARDs), like hydroxychloroquine, and methotrexate. Steroids are typically avoided because they can precipitate a renal crisis, especially in the diffuse form.

Coping

Living with a chronic, complex, disease like scleroderma is challenging.

In addition to debilitating physical symptoms, people with scleroderma commonly report problems with:

• Sleeping and intimacy, as well as emotional problems, like depression and body image distress.
• Most people in the general population have very little (if any) knowledge about scleroderma. This lack of knowledge can lead to stigmatization and/or related isolation.
• Financial worries, including steep medical bills and limited employment opportunities
  

With support and a day-by-day approach, you can improve your quality of life and alleviate many of these stresses.

For support, the Scleroderma Foundation provides contact information for individuals and groups throughout the United States you can talk or meet with. Getting to know others who experience your same struggles can be immensely comforting and helpful.

It's also sensible to work with a therapist, specifically someone who has experience helping people with chronic illnesses.

To optimize your daily functioning and sense of well-being, it's important to adopt healthy lifestyle habits.

A few examples of these habits include:

• Eating well-balanced, nutritious meals
• Managing stress well (you may consider incorporating mind-body therapies, like mindfulness meditation, into your daily routine)
• Avoiding smoking

A Word From Verywell

If you or a loved one has scleroderma, be sure to seek out care from a team of specialists who have experience treating this uncommon condition and its various manifestations. While scleroderma is a disease that poses unique challenges, there are therapies and strategies out there to help you manage it and live well.