Scleroderma is relatively rare. There are approximately 75,000 to 100,000 affected individuals in the United States. The most common occurrence is in women between 30 to 50 years old. Localized scleroderma is more common in children and systemic scleroderma is more common in adults. Prevalence is higher in African Americans and Native Americans than Caucasians. Although there is no known genetic inheritance pattern for scleroderma, it is common for affected individual family members to have other autoimmune conditions like rheumatoid arthritis, lupus, or thyroid disease.

The exact cause of scleroderma is unknown. It is suspected to involve the overproduction of collagen. Connective tissues are made up of many kinds of proteins; one of the most important proteins is collagen of the skin. When the body is injured, it produces collagen for repair. In scleroderma, the body is attacking itself in an autoimmune response. The body is constantly injuring itself causing an overproduction of collagen. The buildup of collagen in tissue prevents the body’s organs from normal function.

Scleroderma can be mild or life-threatening, depending on how far the disease has spread across the tissues. It is important to recognize and treat organ involvement early on to prevent irreversible damage to the organs. Since the collagen deposits vary in their locations, symptoms vary widely. 

Localized scleroderma is a mild form of the disease and involves the skin; it may spread to the muscles, joints, and bones.  It does not affect the internal organs. The most common symptoms for localized scleroderma are discolored patches on the skin (morphea) and large bands of thick hard skin on the limbs (linear scleroderma) or the face and forehead (en coup de sabre). There are minor laboratory abnormalities, which can cause it to be under diagnosed. It rarely progresses into systemic scleroderma.
 

Morphea is often seen in young children, but can appear in adulthood as well. The discolored patches of the skin are waxy and can be thick. The patches vary in size, shape, and color.

Linear scleroderma are large bands of thick hard skin on the limbs. It can also form on the face or forehead, called en coup de sabre. It involves the deeper layers of the skin and the surface layer. It can affect the joints that lie underneath the deep layers of the skin. It is common in childhood and can affect their limb development.

Systemic scleroderma is a more serious form of the disease. It can affect the skin, muscle, joints, gastrointestinal tract, blood vessels, lungs, kidneys, heart, and other organs. The connective tissues involved in these organs become hard and fibrous, leading to dysfunction. There are two types of systemic scleroderma, limited cutaneous systemic sclerosis (CREST syndrome) and diffuse cutaneous systemic scleroderma.

CREST syndrome or limited scleroderma is skin tightness and thickening at the fingers, toes, hands, and face. It develops slowly and the onset of internal organ problems can be delayed. Pulmonary hypertension is common in CREST syndrome, leading to narrowing blood flow through the lungs and shortness of breath. CREST stands for the five common symptoms of limited scleroderma.

• Calcinosis - calcified nodules form under the skin

• Raynaud’s phenomenon - narrowing of the blood vessels causing numb and cold fingers and toes

• Esophageal dysfunction - problems with moving the esophagus

• Sclerodactyly - skin tightness and thickening at the fingers and toes

• Telangiectasia - dilated blood vessels in the skin

Diffused cutaneous systemic scleroderma involves more skin area; the skin thickens rapidly especially around the hands to above the wrists. The tightness of the skin makes bending joints difficult. Some individuals cannot open their mouth wide because of the tightness in the face. Some patches of skin may be lighter or darker. Some may lose hair, have dry skin, and changes in sweat pattern due to the change on the skin. Affected individuals with diffused scleroderma have a higher risk of developing sclerosis or fibrous hardening of internal organs, such as the lungs, kidneys, or the gastrointestinal tract. Calcinosis and telangiectasia can also be features of diffused scleroderma.

Many affected individuals can have limited or diffused scleroderma. Some can have a different combination of symptoms manifested.

The changes in the fingers are the first telltale sign of scleroderma. Fingers that become cold and changes color is called Raynaud’s phenomenon, a common condition. Primary Raynaud’s phenomenon is when an individual has this autoimmune disorder but not scleroderma. Secondary Raynaud’s phenomenon is when an individual has scleroderma and develops Raynaud’s or an individual with Raynaud’s and develops scleroderma.

Diagnosis can sometimes be difficult because scleroderma shares symptoms with other medical conditions. There are auto-antibodies associated with the disease. However, blood tests are not definitive for a diagnosis, may only be associated with scleroderma.

Scleroderma is usually diagnosed by an arthritis specialist, typically a rheumatologist, or a  a dermatologist. The doctor will perform a physical exam, order labs and tests, evaluate the patient’s history and family history, and assess symptom manifestations. Clinical evaluation and monitoring is the primary diagnostic method for scleroderma.

There are several diagnostics tests that are used to aid in the diagnosis of scleroderma and define the type of scleroderma.

• A blood test called centromere antibodies is used to define CREST syndrome. Centromere antibodies are commonly found in CREST syndrome.

• X-rays and computerized tomography (CT) scans are used for finding any bone abnormalities.

• Sometimes antibody tests for Scl-70 can be used to classify diffused scleroderma.

  • Scl-70 is an anti-topoisomerase antibody-type of anti-nuclear autoantibodies

• Thermography can detect skin temperatures between normal tissue and thickened tissue.

• Ultrasound and MRI exams help visualize the connective tissues.

Treatment and symptoms vary between patients. Treatment for scleroderma is primarily symptom management. There are no treatments that can stop or reverse the thickening or hardening of the skin. The goals of most treatment plans are self-care and to prevent further complication of the condition.
 

Some affected individuals with a mild form of the disease do not need treatment. Some affected individuals who go into remission do not need treatment.

Treatments help manage symptoms, such as:

• Proton pump inhibitors and antacids can control heartburn or gastroesophageal reflux disease (GERD).

• Bowel movement can be improved with medications such as stool softeners and laxatives.

• Raynaud’s phenomenon can be treated with calcium channel blockers or PDE-5 inhibitors to open up narrowed blood vessels and improve blood flow. This helps keep the fingers and toes warm and protects the skin from injury.

• Kidney disease or dysfunction can be treated with ACE inhibitors or ARBs (common blood pressure medications). These medications can decrease the blood pressure in the kidneys and protect the kidneys from damage.

• Muscle pain and soreness is managed with steroids, intravenous immunoglobulin (IVIg), or immunosuppressants. Non-steroid anti-inflammatory drugs (NSAIDs) should not be used because NSAIDs can negatively impact the function of the kidneys.

There are two types of lung diseases in scleroderma: interstitial lung disease (the scarring of the lung tissue) and pulmonary arterial hypertension (high blood pressure in the lung arteries).

• Interstitial lung disease may be managed with cyclophosphamide and mycophenolate in some affected individuals.

• Pulmonary arterial hypertension is treated with a number of drugs: calcium channel blockers, PDE-5 inhibitors, prostacyclin-like drugs, and endothelin receptor antagonists.

Affected individuals should routinely follow-up with a rheumatologist, dermatologist, and/or a team of specialists.

Due to the issues with digestion and heartburn, it is recommended to eat small meals frequently rather than three large meals a day. Moisturizers and lotions can help maintain the integrity of the skin and help with dryness. Keeping the skin moisturized can help decrease stiffness of the joints and increase daily activity. In Raynaud’s phenomenon, the affected individual often feels cold. It is important to keep the body warm, dress in layers, wear socks, boots, and gloves. Exercise and daily activities can decrease stiffness in the joints and increase range of motion. It is beneficial to participate in physical and occupational therapy to maintain joint and skin flexibility. Therapy prevents loss of motion and function.

1. https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Scleroderma
2. http://www.scleroderma.org/site/PageNavigator/patients_whatis.html#.XFnJzM9KgUs
3. https://www.hopkinsscleroderma.org/scleroderma/