An Overview of Scleroderma

Scleroderma is a chronic, autoimmune connective disease that causes changes in the skin, blood vessels, and internal organs due to excess collagen production.

While the symptoms of scleroderma vary from person to person, 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.

The diagnosis of scleroderma requires a medical history, physical examination, and blood, imaging, or other specialized tests, depending on various organ involvement. While there is no cure for scleroderma, the combination of self-care strategies and medications can help ease symptoms and prevent complications.

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, though, that a combination of genetics and exposure to an environmental factor is the likely culprit behind the development of scleroderma. Environmental exposures that have been evaluated include certain toxins (e.g., polyvinyl chloride, benzene, and silica) and infection with a virus or parasite.

There are two types of scleroderma—localized scleroderma and systemic sclerosis. Localized scleroderma is limited to skin hardening, while systemic sclerosis involves blood vessels and internal organs, in addition to the skin.

Localized scleroderma primarily affects only the skin and is seen mostly in children. Symptoms may include discolored, hard plaques on the trunk, arms, and legs (called morphea) or streaks of thickened and abnormally colored skin that often affects the arms, legs, and forehead (called linear scleroderma).

Systemic sclerosis is further divided into limited cutaneous systemic sclerosis and diffuse cutaneous systemic scleroderma.

Limited Cutaneous Systemic Sclerosis

This subtype of scleroderma is also called CREST syndrome based on the symptoms it causes. It is usually restricted to certain areas of the body, mostly the hands and to a lesser degree, the face and neck.

Classic symptoms of limited scleroderma fit the CREST mnemonic and include:

• Calcinosis (calcium deposits that look like small white lumps 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 result from an overproduction of collagen)
• Telangiectasias (dilated blood vessels that cause small, red spots on hands and face)

Diffuse Cutaneous Systemic Scleroderma

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

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

When scleroderma affects the kidneys, a rare but severe complication, called scleroderma renal crisis, may develop. With this condition, a person develops malignant high blood pressure along with kidney failure. Likewise, scleroderma-related heart problems may manifest as abnormal heart rhythms or congestive heart failure.

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

Many symptoms of scleroderma may come to light during an appointment with your doctor. For instance, a patient may notice a change in the physical appearance of their face due to skin hardening and tightening. Their hands may also appear puffy, and there may be excoriations and scabs present (from itching caused by inflammation occurring beneath the skin).

Moreover, in a patient with scleroderma, a doctor may notice stiff joints, enlarged blood vessels on the face and hands (telangiectasias), and calcium deposits on the fingers or along certain tendons.

Complaints of digestive problems—acid reflux and problems swallowing—may also be reported, as can color changes (red, blue, and white) in the fingers and sometimes, toes, especially when exposed to the cold (Raynaud's phenomenon).

In the end, if your doctor suspects a potential diagnosis of scleroderma, they will refer you to someone who specializes in the diagnosis and treatment of connective tissue diseases, called a rheumatologist.

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 scleroderma while the anticentromere antibody (ACA) is associated with limited cutaneous systemic scleroderma.

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

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
• Esophageal manometry and/or upper endoscopy
• Echocardiogram
• Electrocardiogram (ECG)

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:

Keeping the whole body warm (not just your hands and feet) by wearing a hat and multiple layers is important to managing this cold-induced symptom. Medications, such as calcium channel blockers or phosphodiesterase type 5 (PDE-5) inhibitors, may also be used.

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.

A medication called an angiotensin-converting enzyme (ACE) inhibitor is used to treat kidney problems related to scleroderma.

The medications Cytoxan (cyclophosphamide) or CellCept (mycophenolate mofetil) are used to treat interstitial lung disease, which is one of two lung complications related to scleroderma.

For patients with symptomatic pulmonary arterial hypertension (a second lung complication of scleroderma), a variety of medications may be given including:

• Prostacyclin-like drugs—for example, Tracleer (bosentan) or Letairis (ambrisentan)
• PDE-5 inhibitors—for example, Viagra (sildenafil) or Cialis (tadalafil)
• Endothelin receptor antagonists—for example, Flolan (epoprostenol), Remodulin (treprostinil), or Ventavis (iloprost)

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).

Living with a chronic, complex disease like scleroderma is no small feat. If you or a loved one has scleroderma, be sure to seek out care from a team of specialists who has experience treating this uncommon condition and its various manifestations.

It's also sensible to seek out psychological care—scleroderma can affect your physical appearance, and this, in combination with its other symptoms, can affect your self-esteem and day-to-day functioning.