Scleroderma is a chronic autoimmune disease characterized by the thickening and hardening of the skin. Some forms of the disease also affect the blood vessels, muscles, bones, and other internal organs.
There are two broad categories of scleroderma. Localized scleroderma affects the skin and subcutaneous tissue (the deepest layer of the skin) and sometimes the underlying muscle or bone. This is the most common type of scleroderma. Systemic scleroderma, also called systemic sclerosis, affects the skin and internal organs, such as the heart, lungs, gastrointestinal tract, kidneys, and blood vessels. Systemic scleroderma is usually more serious than localized scleroderma and can cause damage to internal organs, which may lead to health complications or even death.
Scleroderma is a rare condition. According to the National Scleroderma Foundation, the condition affects around 300,000 people in the United States. (Around 200,000 people have localized scleroderma, while about 100,000 have systemic scleroderma.) Both localized and systemic scleroderma are more common in women than in men. Both forms of the disease can affect people of any age, but systemic scleroderma is most commonly diagnosed in people between ages 20 and 50 and rarely occurs in children.
There is no cure for scleroderma. In many cases, damage caused by the condition cannot be reversed. However, treatments are available that may alleviate symptoms and lessen further skin or organ damage.
What is scleroderma?
Scleroderma is an autoimmune disease in which the body produces too much collagen, a fibrous protein that is a major component of the body’s connective tissues, including the skin, muscles, bones, tendons, and cartilage. It is also found in the gastrointestinal tract, blood vessels, and other organs.
In scleroderma, researchers believe the immune system attacks the body’s blood vessels, damaging them and causing inflammation. When this happens, cells called fibroblasts get activated and overproduce collagen. The excess collagen gets deposited in the skin and internal organs, such as the lungs, kidneys, and gastrointestinal tract, where it causes the buildup of fibrous, scar-like tissue. Affected areas of skin become thickened, tight, and shiny, and affected organs may no longer be able to function properly.
What are the different types of scleroderma?
As mentioned above, scleroderma can be localized, meaning the disease is primarily on the skin, though it may also affect underlying muscles and bones. Or, it can be systemic, meaning it affects the skin and organs throughout the body, such as the heart, lungs, kidneys, and digestive tract. There are also subtypes within each kind of scleroderma.
There are two main types of localized scleroderma:
- Plaque morphea usually begins as one or more reddish, oval patches on the skin that may be itchy and tender. Over time, the patches may thicken and harden, and develop a reddish or purplish border. Affected areas of the skin may become hairless and shiny, and the patches may be darker or lighter than the surrounding skin. In some cases, morphea affects deeper layers of the skin and muscles.
- Linear morphea, the most common type of scleroderma in children, is characterized by lines of thickened skin, often on the arms, legs, head (usually on the forehead or scalp), or trunk. In some cases, this type of scleroderma affects deeper layers of the skin as well as underlying muscles and bone, potentially resulting in muscle weakness, joint problems, and, in children, deformities of affected arms or legs.
There are several types of systemic scleroderma, including:
- Limited cutaneous systemic sclerosis typically causes thickening of the skin on the forearms, hands, lower legs, feet, face, and neck. It begins gradually and progresses slowly. This form of scleroderma used to be known as CREST syndrome, with each letter of the name indicating a symptom:
- Calcinosis: the accumulation of calcium salts in connective tissues
- Raynaud phenomenon: a condition in which the blood vessels—often of the fingers and toes—narrow more than usual in response to cold or emotional stressors
- Esophageal dysmotility: when scarring impairs the normal function of the esophagus, often leading to gastroesophageal reflux disease (GERD)
- Sclerodactyly: when the skin of the fingers thickens and tightens, reducing their mobility
- Telangiectasias: a condition, known as “spider veins,” resulting in small, widened veins that appear as fine red or purple lines under the skin of the fingers, chest, face, lips, and/or tongue
People with limited cutaneous systemic sclerosis usually have one or more of these symptoms.
- Diffuse cutaneous systemic sclerosis causes thickening of the skin across more of a person’s body, including the arms, hands, legs, feet, trunk, and face. This form of scleroderma progresses rapidly. The lungs, kidneys, and other organs are also often affected, and people typically experience Raynaud phenomenon.
- Systemic sclerosis sine scleroderma affects internal organs and blood vessels but does not involve the skin.
- Systemic sclerosis with overlap syndrome occurs when people with systemic sclerosis also have symptoms of other autoimmune diseases, such as rheumatoid arthritis or systemic lupus erythematosus, among others.
All types of systemic sclerosis can cause pulmonary arterial hypertension, interstitial lung disease, and kidney disease.
What causes scleroderma?
Though doctors don’t yet know what causes scleroderma, it’s thought to be caused by a mixture of genetic and environmental factors. Studies have linked a number of genes to scleroderma that may make people more susceptible to the condition. People with a first-degree relative with scleroderma or certain autoimmune diseases, including multiple sclerosis and rheumatoid arthritis, are at increased risk for the condition. Environmental exposures to certain chemicals, drugs, or viral infections have also been associated with the condition.
What are the risk factors for scleroderma?
People may be at increased risk of systemic scleroderma if they:
- Have a first-degree relative (parent, sibling, or child) with scleroderma
- Have a first-degree relative with certain other autoimmune diseases, such as multiple sclerosis, rheumatoid arthritis, systemic lupus erythematosus, and thyroiditis (inflammation of the thyroid)
- Are female
- Are between 20 and 50 years of age
- Were exposed to silica dust, vinyl chloride, welding fumes, epoxy resins, paint thinners, paint removers, industrial solvents, or other chemicals
- Worked as a gold miner or coal miner
- Took certain medications, including the chemotherapy drug bleomycin, the opioid pentazocine, cocaine, hormone replacement therapy, or certain appetite suppressants
- Have certain gene mutations, especially in certain genes that play a role in the immune system
Localized scleroderma has been associated with the following:
- Radiation therapy
- Certain infections, including cytomegalovirus and Borrelia burgdorferi (a species of bacteria known to cause Lyme disease), among others
- Certain medications, including the chemotherapy drug bleomycin and the opioid pentazocine, among others
- Skin injury—for instance, from surgery
What are the symptoms of scleroderma?
The symptoms of scleroderma vary, depending on the type of scleroderma and which parts of the body are affected.
Symptoms of localized scleroderma include:
- Reddish, oval patches on the trunk, legs, arms, or chest that may be itchy and/or tender
- Thickened patches of shiny, hairless skin surrounded by a reddish or purplish ring
- Affected areas of the skin that may be darker or lighter than the surrounding skin
- A line of thickened skin on the arms, legs, face, forehead, scalp, or trunk (the affected skin may be reddish or purplish, or waxy and white, surrounded by darkened skin)
- Muscle weakness
- Loss of joint mobility (known as joint contractures)
- Leg or arm deformities (including differences in limb lengths in children)
Symptoms of systemic scleroderma may include:
- Puffy fingers and/or dry, itchy skin, especially in the early stages of the condition
- Thickened, shiny, hairless areas of skin that are darker or lighter than the surrounding areas
- Calcinosis cutis (calcium deposits under the skin that appear as hard white, yellow, reddish, or skin-colored bumps)
- Ulcerations on the fingertips, finger joints, elbows, and ankles
- Pitting on the fingertips
- A mask-like, expressionless face (due to skin tightening and a reduced ability to move the eyelids, mouth, and cheeks)
- Difficulty opening the mouth
- Fingers, toes, nose, and/or ears that turn white and then blue when exposed to cold temperatures or emotional stress due to reduced blood flow (affected parts of the body may turn red as blood flow returns)
- Ulcers or pitting on fingertips
- Gangrene of the fingers
Muscles, joints, and tendons:
- Joint pain and/or stiffness
- Joint contractures (joints get stuck in a flexed position)
- Impaired joint mobility
- Grating or rubbing feeling or sound when moving joints
- Muscle pain and/or weakness
- Carpal tunnel syndrome
- Difficulty swallowing
- Diarrhea and/or constipation
Heart and lungs:
- Shortness of breath while at rest or during physical activity
- Reduced ability to exercise
- Dry, unproductive cough
- Chest pain
- Abnormal heartbeat (heart arrhythmia)
- Pulmonary arterial hypertension
- Interstitial lung disease
- Heart failure and pericarditis (swelling of the lining that surrounds the heart).
- High blood pressure, which often occurs abruptly
Systemic scleroderma can lead to acute kidney injury (AKI).
People with systemic scleroderma may also experience sexual dysfunction.
How is scleroderma diagnosed?
Doctors diagnose scleroderma after learning about a patient’s medical history, examining the patient, and offering diagnostic tests. It may be more difficult to diagnose scleroderma in its early stages when the condition may be confused with other autoimmune diseases.
If you suspect that you have symptoms of scleroderma, let your doctor know what symptoms you are experiencing and how long they have affected you. Also mention if you have any risk factors for the condition, such as a first-degree relative with scleroderma or past exposure to certain chemicals or drugs.
During a physical exam, doctors will look for thickened, tight, or shiny areas of skin and other signs of scleroderma. They will also listen to your lungs and heart for any abnormalities that could be caused by scleroderma.
The following diagnostic tests may also be offered:
- Blood tests, to check for certain antibodies, including antinuclear autoantibodies (which are present when a person has an autoimmune disease; specific antibodies are particular to systemic scleroderma). Bloodwork also helps doctors rule out other conditions and determine which organs may be involved in the disease.
- Imaging studies, including X-ray, ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI), to look at internal organs for abnormalities
- Skin biopsy of an area of hardened skin, to rule out other conditions
- Pulmonary function testing (PFT), to assess how well the lungs are working. PFT often includes tests to measure how well the lungs exhale air, lung volume, and how efficiently oxygen moves from the lungs into the blood
- Echocardiogram, a test that uses ultrasound waves to produce an image of the heart as it beats
How is scleroderma treated?
Scleroderma treatments aim to alleviate symptoms or prevent further damage to skin and organs. The choice of treatment depends on a patient’s symptoms, the extent of the disease, and which organs are involved.
Some medications used to treat people with scleroderma include:
- Topical medications (such as ointments or creams), including corticosteroids, tacrolimus (a drug that suppresses the immune system), and vitamin D analogs, may be used to treat skin lesions caused by scleroderma.
- Corticosteroids given orally, as injections, or intravenously help reduce inflammation, as well as joint and muscle pain.
- Immunosuppressants—medications that suppress the immune system—such as methotrexate, mycophenolate mofetil, and rituximab—may be used to treat skin lesions and inflammation of internal organs.
- Nonsteroidal anti-inflammatory drugs (NSAIDs) or acetaminophen can help alleviate joint and muscle pain.
- Vasodilators are drugs that dilate, or widen, blood vessels, thereby improving blood flow. Calcium channel blockers or other vasodilators may be used to treat Raynaud phenomenon and pulmonary arterial hypertension caused by scleroderma.
- Antifibrotic medications, such as nintedanib, among others, may reduce scarring (fibrosis) of the skin and other organs seen in people with scleroderma.
Additional medications may be prescribed to treat Raynaud phenomenon as well as lung, kidney, and gastrointestinal problems caused by scleroderma.
Other types of treatment may also be used to treat scleroderma, including:
- Ultraviolet (UV) light therapy, also known as phototherapy, which may be used to treat skin lesions.
- Laser therapy, which can treat telangiectasias (spider veins) caused by scleroderma.
- Physical therapy, which helps patients maintain strength and range of motion in joints.
- Surgery, which can be used when other treatment options are unsuccessful to remove calcium deposits under the skin that cause pain and ulcers.
- Occupational therapy, which can help people with scleroderma learn how to perform everyday activities that may be more difficult due to joint pain or problems with mobility.
Lifestyle changes may help people with scleroderma address certain aspects of the condition. For instance, ointments or creams help keep the dry skin moisturized. People with acid reflux may elevate the head of their bed to help relieve symptoms. Those with Raynaud phenomenon should dress warmly and avoid cold weather when possible.
What is the outlook for people with scleroderma?
The outlook for people with scleroderma varies greatly, depending on their type of scleroderma, which organs are involved, and the severity of the disease.
In general, people with systemic scleroderma are at greater risk of complications or death than those with localized scleroderma. These complications include interstitial lung disease, pulmonary arterial hypertension, and heart failure, among others. Systemic scleroderma also increases the risk of cancer. Among people with systemic sclerosis, those with diffuse cutaneous systemic sclerosis tend to have a worse prognosis than those with limited cutaneous disease.
Localized scleroderma often becomes inactive on its own, without treatment, over three to six years. Thickened patches of skin may soften over time, but they can leave areas of skin that are darker or lighter than the surrounding skin, resulting in cosmetic concerns. In some cases, after a period of inactivity, new areas of skin become affected by the disease. When localized scleroderma affects the muscles and bones, it can cause joint problems and, in children, it can cause differences in the length of the limbs.
What makes Yale unique in its treatment of scleroderma?
“The Yale Scleroderma Program is a regional and national center of expertise in the diagnosis and management of patients with scleroderma,” says Monique Hinchcliff, MD, MS, a Yale Medicine rheumatologist and director of the Yale Medicine Scleroderma Program. “Yale offers a team-based approach to care that involves specialists in the care of the skin, lungs, heart, gastrointestinal tract, and genitourinary tract. Each clinician has specialized expertise in the care of patients with scleroderma. The care approach is holistic, involving social workers, nurses, dieticians, and physical and occupational therapists, in addition to the physician team. The program goal is to provide state-of-the-art care for patients with scleroderma while working to find better treatments and a cure.”