What is Scleroderma?

Scleroderma is a condition that affects the skin and connective tissues, causing it to harden and tighten. Scleroderma forms part of a condition known as systemic sclerosis which is a connective tissue disease that affects subcutaneous tissues, muscles and internal organs. It is an autoimmune disease of unknown origin that results in an excessive deposition of collagen in the skin and various other organs.

It is estimated that around 20 people in 1 million is affected by this condition in the United States. Scleroderma is a disease that occurs all around the world, despite being more common in certain countries. It has been observed to be more common among black people. African Americans tend to have a poorer prognosis from the disease compared to white people. Scleroderma is also 4-9 times more common in women compared to men. It is more common among those aged between 30-50 years.

What are the causes of scleroderma?

The exact cause of scleroderma is still unknown. It is not an inherited disorder, however, genetic predisposition may play a role in the development of the disease. This means that if you have close family members with the same condition, you are at increased risk of having it too. Several environmental factors can trigger or accelerate the development of systemic sclerosis. These factors include the following:

• Exposure to silica

• Exposure to certain solvents
• Exposure to radiation or radiotherapy
• Exposure to certain viruses

In the presence of genetic background and environmental exposures, an excessive production and accumulation of collagen is initiated in various tissues of the body. Collagen is a type of protein that makes up body’s connective tissues, for example, the skin.

What are the signs and symptoms of scleroderma?

Scleroderma can present with a variety of signs and symptoms, depending on the parts of the body that is involved. These include:

• Skin: Skin manifestations include a progressive tightening and hardening of the skin. It may also be swollen and puffy at first and does not respond to diuretic therapy. The skin changes usually start at the fingers and extend progressively. The skin may also change colour, becoming either hyperpigmented (darker) or hypopigmented (lighter). Some people may also experience itching of the skin.
• Blood vessels: Various blood vessels may also be affected by the disease. Raynaud phenomenon is usually present initially in 70% of people. This is when the blood vessels in your fingers or toes contract in response to cold temperatures or distress. The toes and fingers then turn blue, painful or numb. When blood vessels are affected, you may also end up with ulcers at your fingertips.
• Gastrointestinal system: When the gastrointestinal system is involved, gastroesophageal reflux, bloating, early satiety, heartburn, constipation, fecal incontinence or malnutrition may occur.

• Lungs: This can present with progressive difficulty to breath, chest pain or persistent dry cough.
• Musculoskeletal system: If the musculoskeletal system is affected the following symptoms may arise: joint pain, muscular pain, inability to flex the joints and muscular weakness.
• Heart: Difficulty to breath, palpitations, irregular heartbeats and syncope are clinical manifestations that can arise if scleroderma involves the heart.
• Kidneys: If the kidneys are affected, you may have increased blood pressure, fatigue, nausea, swelling in your legs and feet and weakness.
• Genitourinary system: This can present with erectile dysfunction, painful sexual intercourse, narrowing of the vagina and vaginal dryness.

How is the diagnosis of scleroderma made?

To make the diagnosis of scleroderma, your doctor will first ask you a series of questions to know more about your symptoms. He/she will then perform a thorough physical examination to look for signs of scleroderma. In many cases, your doctor may request some other tests to confirm the diagnosis. These include:

• Blood tests: Samples of your blood may be taken for further analysis in a laboratory. It can be used to look for the presence of increased creatinine (if kidneys are affected), levels of muscles enzymes, erythrocyte sedimentation rate (ESR), anemia and antibodies

• Computed Tomography (CT) scan: This is an imaging modality that can be used to evaluate the extent of lung involvement.

Other tests include electrocardiography (to check for any cardiac involvement) and gastrointestinal endoscopy (procedure in which a special device with a camera is sent into the gastrointestinal tract to look for any abnormalities).

How is scleroderma managed?

The main goal of treatment of scleroderma is to manage the potential complications as well as providing relief of symptoms. It is important to know that there are no specific medication available to cure scleroderma. Treatment options to manage complications and provide symptomatic relief include:

• Steroid creams or medications: These are usually prescribed to help in the treatment or slowing down skin changes. They are useful in reducing joint swelling and pain, loosen tight skin as well as slowing the development of further skin changes.
• Blood pressure medications: These are useful to help in the dilation of blood vessels. This can prevent Raynaud’s phenomenon, lung and kidney complications related to blood vessels.
• Immunosuppressant: In some cases, drugs that lower your immune system are helpful to reduce the symptoms associated with scleroderma.
• Drugs for digestive symptoms: Acid suppressants can be taken to relieve heartburn. Other medications may also be prescribed to alleviate constipation or bloating.
• Antibiotic ointments: If you have ulcers on your fingertips, it is advised to use antibiotic ointments on the ulcer to prevent infections.

• Pain relief medications: If pain is a bothering symptom of scleroderma, your doctor may prescribe pain medications to provide relief.
• Physiotherapy: This is useful when you have problems to move your joints or to manage pain.
• Amputation: If your fingertips end up being infarcted (deprived from oxygen until tissues die), amputation may be required.

What are the potential complications of scleroderma?

The following complications may arise from scleroderma:

• Digital infarctions: This is when fingers are deprived from oxygen and the cells and tissues and up dying. Amputation may have to be done.
• Pulmonary hypertension: This is when the blood pressure in the arteries of the lungs is increased.
• Myositis: Inflammation of muscles
• Renal failure
• Wound infections

What is the prognosis for scleroderma?

With time, the survival in patients with scleroderma had improved drastically. You are more likely to have a poor prognosis if you:

• Are young
• Are of African descent
• Have a rapid deterioration of skin symptoms
• Have a greater extent of skin affected
• Have anemia
• Have an elevated erythrocyte sedimentation rate (ESR)
• Have your lungs, kidneys and heart involved

Jimenez, S., 2020. Scleroderma

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