Scleroderma - Definition, Causes, Symptoms and Treatment

Scleroderma also known as systemic sclerosis. Scleroderma is an autoimmune, connective tissue disease. Scleroderma  causes inflammation and thickening of the skin. Genes may play in leading to the development of scleroderma. Scleroderma is a diffuse connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage. In some cases, scleroderma also affects the blood vessels and internal organs. Scleroderma can be classified in terms of the degree and location of the skin involvement. Accordingly, scleroderma has been categorized into two major groups, diffuse and limited. Diffuse form of scleroderma is involves symmetric thickening of skin of the extremities, face, trunk (chest, back, abdomen, or flanks) which can rapidly progress to hardening after an early inflammatory phase.Organ disease can occur early on and be serious. Organs affected include the esophagus, bowels, lungs with scarring (fibrosis), heart, and kidneys.

Limited scleroderma typically has gradual onset and is restricted to certain areas of the skin. Raynaud's phenomenon is due to vasoconstriction of the small arteries of exposed peripheries - particularly the hands and feet - in the cold. The skin changes and other features of disease tend to occur more slowly than in the diffuse form. Because a characteristic clinical pattern can occur in patients with the limited form of scleroderma, this form has taken another name which is composed of the first initials of the common components. Telangiectasia  a condition caused by the swelling of tiny blood vessels, in which small red spots appear on the hands and face. While not painful, these red spots can create cosmetic problems. Genetic predisposition appears to be limited: genetic concordance is small; still, there often is a familial predisposition for autoimmune disease. Polymorphisms in COL1A and TGF-ß1 may influence severity and development of the disease. There is limited evidence implicating cytomegalovirus (CMV) as the original epitope of the immune reaction, and organic solvents and other chemical agents have been linked with scleroderma.

Scleroderma affects approximately 300,000 people in the United States.  Scleroderma affecting the esophagus leads to heartburn. This is directly a result of stomach acid backflowing up into the esophagus. Sometimes this can lead to scarring of the esophagus with difficulty swallowing and/or localized pain in the central chest.  It is four times as common in women than in men. Incidence rates are estimated at 2-20 per million per year in the United States. Scleroderma affecting the large bowel (colon) most often causes constipation, but can also lead to cramping and diarrhea. When this is severe, it complete stool blockage (fecal impaction) can result. Inflammation of the lungs in scleroderma can cause scarring, resulting in shortness of breath, especially with physical exertion. Elevated pressure in the arteries to the lungs (pulmonary hypertension) can also cause shortness of breath and difficulty getting an adequate breath with activity. Elevated blood pressure is potentially serious and can lead to kidney damage. Symptoms include headache, fatigue, and in severe cases, stroke.

Scleroderma can affect many different organs and organ systems. Exposure to industrial solvents or an environmental agent may play a role in predisposing to scleroderma. Medications that help with blood circulation such as, angiotensin-converting enzyme (ACE) inhibitors and low-dose enteric-coated aspirin. Hydroxychloroquine (Plaquenil) drug has relatively few side effects, and it's also effective for the arthritis that can be associated with scleroderma. Apart from hydroxychloroquine's apparent ability to affect the way immune cells work, scientists don't completely understand how it helps tame the disease process. Cyclophosphamide (Cytoxan) is sometimes used to treat pulmonary fibrosis. People with scleroderma-related lung disease found cyclophosphamide modestly improved lung function and quality of life. Bosentan (Tracleer) is an oral medication that has been approved for pulmonary hypertension in people with scleroderma. Esophagus irritation and heartburn can be relieved with omeprazole (Prilosec), esomeprazole (Nexium), or lansoprazole (Prevacid). Antacids can also be helpful. Elevating the head of the bed can reduce backflow of acid into the esophagus that causes inflammation and heartburn. Avoiding caffeine and cigarette smoking also helps.