Scleroderma

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Signs and Symptoms

Symptoms of scleroderma vary from patient to patient and range from mild to severe. Depending on the type, symptoms may develop rapidly or slowly over time. In most cases, the initial symptoms are Raynaud's syndrome (i.e., decreased blood flow to the extremities causing numbness, tingling, and burning) and swelling and puffiness in the fingers.

As many as 95% of all patients with systemic sclerosis experience Raynaud's syndrome, which often is brought on by exposure to cold or by stress. The condition may develop months or years before other symptoms develop.

Swelling usually begins in the extremities (e.g., fingers, hands) and may also affect the arms, face, and legs. As the disease progresses, the skin hardens and thickens. Rapid onset and progression of skin changes is associated with an increased risk for lung, heart, and kidney involvement. Generalized scleroderma results in thickening of the skin throughout the body.

Additional skin changes may include the following:

• Decrease or increase in pigmentation (hypo- or hyperpigmentation; resulting in dark or light patches of skin)
• Development of sores (ulcers) on the skin
• Hair loss or changes in hair color (e.g., "salt and pepper" appearance)
• Progressive tightness (decreased elasticity), which may restrict movement
• Shiny appearance to the skin
• Vaginal dryness

Other common symptoms of systemic sclerosis include the following:

• Arthritis (i.e., pain, swelling, and stiffness in the joints)
• Fatigue
• Muscle weakness and atrophy (i.e., wasting, decrease in muscle size)
• Nonproductive cough

Sjögren's syndrome, which causes dryness of the eyes and mouth, can develop as a complication of scleroderma (as well as other autoimmune diseases such as lupus and rheumatoid arthritis). This type of the disorder is called "secondary" Sjögren's.

Complications
Blood vessel damage and fibrosis often cause serious complications and may affect the gastrointestinal tract, heart, kidneys, and lungs. Lung problems (e.g., pulmonary hypertension, diffuse interstitial fibrosis, lung cancer) are the leading cause of death in patients with systemic sclerosis.

Systemic sclerosis can affect the upper and the lower gastrointestinal tract. Gastrointestinal symptoms include the following:

• Abdominal pain and distention
• Diarrhea
• Difficulty swallowing
• Diverticulosis (development of sacs or pouches in the walls of the colon)
• Esophageal reflux
• Fecal incontinence
• Heartburn
• Pseudo-obstruction (not a true blockage, caused by nerve and muscle damage)
• Vomiting

When the heart is involved, symptoms may include shortness of breath, palpitations, and chest pain. About 33% of patients develop fluid around the heart (pericardial effusion).

Involvement of the kidneys can cause the sudden onset of extremely high blood pressure (hypertension), which is called malignant hypertension. This condition, which may be life threatening, occurs more often in patients with diffuse scleroderma, during the first 5 years of the disease. Prior to the development of Angiotensin-converting enzyme (ACE) inhibitors, kidney (renal) involvement was the leading cause of death in patients with systemic sclerosis.

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