Scleroderma

Fast facts

• Scleroderma is a rare, chronic skin condition.

• The condition is caused by excessive collagen building up in the skin and the body's tissues.

• Women between the ages of 35-55 years are the ones most commonly affected by scleroderma.

• Typical signs and symptoms of scleroderma include hard, thick, tight or shiny skin, Raynaud's phenomenon, stiff or painful joints, and small white lumps under the skin of the fingers.

• There is currently no cure for scleroderma, but treatment can make a significant difference to your health and quality of life.

What is scleroderma?

Scleroderma, also known as systemic sclerosis, is a rare chronic condition that affects the skin and other organs of the body. It is more common in women between the ages of 35-55 years, but it can also develop in children.

Causes

Scleroderma is caused by an autoimmune reaction. In a healthy immune system, specific immune cells are deployed to fight off infection. During an autoimmune reaction, the immune system mistakenly attacks healthy tissues.

Collagen is a protein that gives structural support and strength to the skin and to most tissues in the body. In scleroderma, the damage caused by the autoimmune reaction causes the body to produce too much collagen. The excess collagen builds up in the skin and organs, leading them to become thickened and hard.

Types

There are two main types of scleroderma - localized scleroderma, which affects only the skin, and systemic scleroderma, which can affect the skin as well as internal organs including the digestive system, heart, lungs, kidneys, blood vessels, muscles and joints.

Signs and symptoms

Signs and symptoms of scleroderma can vary, depending on whether it is localized or systemic. The symptoms can include:

• Hardening or thickening of the skin. The name 'Scleroderma' literally translates to mean 'hard skin';
• Patches of tight, shiny skin;
• Raynaud's phenomenon, which involves the fingers and toes turning either white or blue-purple due to cold temperatures or emotional stress. This is due to the constriction of blood vessels, which can also result in numbness and ulcers on the fingertips;
• Stiffening or pain of joints, such as in the fingers, due to tightness of the skin;
• Calcinosis: calcium deposits that appear as small white lumps under the skin of the fingers;
• Difficulty swallowing, indigestion, heartburn, bloating or diarrhea, and;
• In some cases, heart, lung and kidney functions can be affected.

Methods for diagnosis

Scleroderma can develop slowly over time and appear in different forms, which can make it difficult to diagnose. A physical examination and a variety of tests may be required to make a diagnosis. Tests can include:

• A physical examination of fingernails under a microscope to look for changes in small blood vessels, called capillaries, that can show signs of scleroderma;
• Blood tests;
• Kidney function tests to assess the impact of scleroderma on the kidneys;
• A skin biopsy to look for skin changes related to scleroderma;
• An X-ray of the hands to identify calcinosis;
• Lung function tests to assess the lungs;
• A computerized tomography (CT) scan can be used to evaluate any lung damage due to scleroderma;
• Electrocardiography and echocardiography can be performed to assess the heart function, as scleroderma can reduce the electrical activity of the heart and lead to heart failure, and;
• An endoscopy can be performed to see if the esophagus and intestines have been affected by scleroderma.

Types of treatment

Scleroderma can be treated, but not cured. Treatment aims to reduce the symptoms, slow its progression and treat any complications as early as possible to limit any disability. Some treatment techniques include:

• Moisturizing dry and tight skin;
• Stretching exercises to increase skin elasticity;
• Keeping hands warm to reduce the symptoms of Raynaud's phenomenon;
• Physiotherapy to maintain joint mobility and muscle strength;
• Occupational therapy to assist with daily tasks;
• Antibiotic ointment to prevent bacterial infection of any skin ulcers;
• Medications to reduce heartburn, such as omeprazole;
• Medications to suppress the over-active immune system. Some medications that may be prescribed include steroids, methotrexate and cyclophosphamide;
• Regular monitoring of blood pressure, and;
• Surgical removal of calcium deposits.

Potential complications

Scleroderma can vary in degrees of severity and can have multiple complications. These can include:

• Finger ulcers due to Raynaud's phenomenon;
• High blood pressure in the lungs (pulmonary arterial hypertension);
• Pulmonary fibrosis, caused by scarring of the lung tissue. It can result in breathing difficulties;
• Heart complications including pericarditis (inflammation of the sac that surrounds the heart), and heart failure;
• Acute kidney disease;
• Teeth complications, which can be a result of skin tightening around the mouth and which can cause difficulty with tooth brushing. There may also be a reduced amount of saliva, which can lead to an increase in tooth decay, and;
• Sexual dysfunction, which can involve erectile dysfunction in men and vaginal dryness in women.

Prognosis

The long-term outcomes of scleroderma depend on the how the internal organs are affected.

Although there is no cure for scleroderma, regularly monitoring your symptoms and a timely use of treatments can make a significant difference to your health and quality of life.

Prevention

There is currently no definitive way to prevent scleroderma.

References

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

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