Introduction

Scleroderma is a group of connective tissue diseases, which are considered chronic and can range in severity from mild to life threatening.

These diseases, in most cases, affect at least the skin. But because connective tissue is present throughout the body, scleroderma, in its more serious forms can affect tissues and organs deep in the body.

While people of any age, sex and race can have scleroderma, most scleroderma sufferers are women diagnosed between the ages of 30 and 55 years of age.

Cause

The exact cause is unknown. Scleroderma’s not contagious and while there may be a genetic link, it’s not an inherited disease either. It is an autoimmune disease meaning that the body’s own immune system mistakenly attacks its own tissues, in this case, fibroblasts. Fibroblasts are connective tissue cells which produce collagen.

Theories exist about possible environmental triggers such as viruses and chemicals or a hormonal relationship due to the greater risk of women of late childbearing age. Whatever the cause, an immune response results in inflammation and the overproduction of collagen by fibroblasts. This thickens the skin and potentially crowds other structures like muscles, mucous membranes, joints and internal organs.

The kidneys, lungs, blood vessels, intestines or the heart may suffer damage. The varied nature of the disease makes it hard to recognize and diagnose.

Symptoms

Scleroderma has two basic forms and symptoms will vary depending upon which is present.

Local scleroderma is a mild form affecting the skin and sometimes underlying muscle. It also has sub-forms. In the morphea sub-form of local scleroderma dry, red, hairless oval patches form on the skin of the chest, stomach, back, face, arms or legs. Local scleroderma may occur in children under 10 as Linear Scleroderma. It’s recognized by thickened “en coup de saber” or sword strike skin bands, not ovals, on a limb or most notably on the forehead. Local Scleroderma goes away in 3 to 5 years but may leave hardened skin and muscle weakness or stunted limb growth in children.

The second form, systemic scleroderma, is more dangerous because it can affect major organs not just skin. It’s noted by the acronym CREST, which stands for Calcinosis, Raynaud’s, Esophageal Dysfunction, Sclerodactyly, and Telangiectasias. Any combination of these may be present. Calcinosis is calcium deposits under the skin. Raynaud’s syndrome is severe cold intolerance and discoloration of the hands. Esophageal dysfunction is swallowing difficulty or heartburn. Sclerodactily is stiffness and hardening of skin on the hands. Telangectasias are small red spots on the skin. If CREST occurs slowly and skin on the trunk is not affected, it’s a milder form of systemic scleroderma, called systemic local scleroderma. If onset is fast and skin on the trunk is tight and itchy, it’s the more severe diffuse systemic scleroderma. When internal organs are damaged there is fatique, shortness of breath, high blood pressure, weight loss, joint and muscle pain and swelling.

Treatment

There’s no cure for scleroderma. Treatment is meant to control the symptoms and limit damage to skin or organs. For dry, hard skin, ointments and special cosmetics are used. Stiffness of facial skin can affect appearance and self esteem. Physical therapists can give exercises to alleviate tightness, especially around the mouth and improve function in general. Cosmetic surgery is an option, especially for red spots and “En coup de Sabre” marks. Avoiding temperature extremes helps Raynaud’s. Good dental hygiene and professional care prevents cavities due to dry mouth from saliva gland damage.  Special diets control weight loss and heartburn. Medications control blood pressure and inflammation. Antibiotics may be needed. Generally a rheumatologist will manage scleroderma. A dermatologist may also play a role in care. In the case of serious internal organ involvement, referrals will be made to gastroenterologists (digestive specialist), nephrologists (kidney specialists), cardiologists or pulmonologists (lung specialists).  Because each case is unique, the plan of care will be highly individualized.