Scleroderma literally means “hard skin”. Scleroderma, also known as Systemic Sclerosis, is a chronic autoimmune condition in which the body’s immune system attacks its own tissues. Typically, abnormalities in the blood vessels, connective tissue and the immune system occur, resulting in inflammation and damage affecting the skin, digestive system, heart, lungs, muscles and joints.
Whilst Scleroderma is not a common condition, it can have a profound impact on people and their lifespan. An estimated 20 to 200 people per million are affected worldwide, with the age of onset usually between 30 to 50 years. Women are 4 times more likely to develop the condition than men.
The body’s faulty immune system stimulates the fibroblast cells to produce excess collagen, causing fibrosis. There are two major types based on the extent of skin involvement that causes hardening, thickening and tightness of the skin: Limited Scleroderma and Diffuse Scleroderma with different patterns of involvement and symptoms.
The first signs of Scleroderma include:
• Raynaud’s phenomenon: Approximately 90% of patients will experience this. Blood circulation is reduced due to excess collagen causing narrowing of small blood vessels. The fingers and toes often turn white or purplish triggered by cold temperatures or emotional stress. In more severe cases, this may lead to ulcers.
• Skin: This usually starts as puffy or swollen fingers and toes in both hands and feet, followed by thickened or hardened skin. There may be intense itch and skin inflammation initially. The skin often feels tight and this may lead to difficulty in bending or straightening the fingers.
Other symptoms and signs may include:
• Joints: Pain and swelling (or arthritis) • Muscles: Muscle weakness, especially in the upper arms or thighs• Telangiectasia: Small clusters of dilated blood vessels that appear as red spots may develop on the hands and face. These spots are not painful, but can cause cosmetic problems.• Heart: Chest pain or irregular heart beat • Lung: Shortness of breath or persistent coughing • Digestive system: Heartburn with acid reflux, swallowing difficulties, bowel constipation, diarrhea or weight loss • Kidneys: Fatigue with very high blood pressure • Calcinosis: Calcium deposits form under the skin around the elbows, knees or fingers, appearing as hard, whitish areas. These deposits may be painful and break through the skin to form ulcers.• Salivary glands and tear ducts: Dry mouth and eyes• Dental health: Tooth decay may occur due to difficulty in opening the mouth to brush the teeth (caused by tight facial skin), gum retraction and dry mouth.
What causes Scleroderma is currently unknown. Some unknown factor triggers an overproduction of collagen (a type of protein that is the main component of the connective tissue) resulting in thickened and hardened skin and internal organs.
Scleroderma is not contagious, so you cannot "catch it" or "give it" to someone else. In most cases, Scleroderma does not run in the family i.e. it is not hereditary, and patients do not "pass on" Scleroderma to their children. An environmental trigger in a person who is at risk may result in the disease manifesting.
Depending on the initial symptoms, a person with Scleroderma may initially be seen and diagnosed by different specialists (e.g. rheumatologist, internist, dermatologist, lung specialist). Typically the rheumatologist will continue the care of the patient. The most common test for Scleroderma is an immunological blood test that detects antibodies produced by the body that are specific for Scleroderma.
Occasionally a skin biopsy (in which a sample of the skin is taken for examination under a microscope) or examination of the small blood vessels of the nail bed under the microscope is required.
Other tests may include X-rays, CT scan, echocardiogram (heart scan), lung function test, endoscopy (to look at the oesophagus and stomach) and urine tests, depending on whether other internal organs are affected.
Treatments can slow down or stop the disease from getting worse. Treatments help to relieve the different symptoms of the condition and limit the damage to the internal organs. Dedicated Scleroderma clinics have been shown to result in better care for patients. There is currently no cure for Scleroderma. Research is therefore necessary to continue to discover new treatments and improve the care of patients with Scleroderma.
Regular moderate exercise is important to improve joint flexibility and cardiovascular health. Consult your doctor or physiotherapist about the type of exercise you can do.
Pain relief for stiff and swollen joints is usually possible with non-steroidal anti-inflammatory drugs (NSAIDs) or low dose steroids. Areas of dry and irritated skin can be helped by regular moisturizing. Antihistamines may help with intense itch.
For Raynaud's phenomenon, it is important to keep warm and to stop smoking. Medications to improve blood circulation may be prescribed to help ulcer healing or to prevent recurrent ulcers. Proper wound care is important to promote ulcer healing and antibiotics may be needed if the ulcers are infected.
For oesophageal involvement, H2 blockers, proton pump inhibitors or prokinetics may be prescribed. Simple measures such as avoiding acidic foods, eating small frequent meals, elevating the head of the bed and avoiding lying down for at least 3 hours after a meal can help to decrease symptoms of acid reflux.
Immunosuppressive medication may be prescribed to decrease the activity of the immune system. When internal organs are affected by the condition, other specific treatments will be needed.
Surgery may present particular challenges in people who have Scleroderma, so proper preparation is important. This can be difficult for emergency surgeries but elective surgeries can be planned for. Make appointments with your rheumatologist and other specialists involved in your care to get thorough evaluations and recommendations for surgery.