Scleroderma

Scleroderma is a type of autoimmune disorder. In this condition, the immune system mistakenly attacks and damages healthy body tissue.

The cause of scleroderma is unknown. A buildup of a substance called collagen in the skin and other organs leads to the symptoms of the disease.

The disease most often affects people 30 to 50 years old. Women get scleroderma more often than men. Some people with scleroderma have a history of being around silica dust and polyvinyl chloride, but most do not.

Widespread scleroderma can occur with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. These cases are referred to as undifferentiated connective tissue disease or overlap syndrome.

Scleroderma Symptoms

Some types of scleroderma affect only the skin, while others affect the whole body.

• Localized scleroderma: Often affects only the skin on the hands and face. It develops slowly, and rarely spreads in the body or causes serious problems.
• Systemic scleroderma, or sclerosis: May affect large areas of skin and organs such as the heart, lungs, or kidneys. There are two main types: limited disease (CREST syndrome) and diffuse disease.

Skin symptoms of scleroderma may include:

• Fingers or toes that turn blue or white in response to cold temperatures (Raynaud phenomenon)
• Stiffness and tightness of skin of fingers, hands, forearm, and face
• Hair loss
• Skin that is darker or lighter than normal
• Small white lumps beneath the skin that sometimes ooze a white substance that looks like toothpaste
• Sores (ulcers) on the fingertips or toes
• Tight and mask-like skin on the face

Bone and muscle symptoms may include:

• Joint pain
• Numbness and pain in the feet
• Pain, stiffness, and swelling of fingers and joints
• Wrist pain

Breathing problems may result from scarring in the lungs and can include:

• Dry cough
• Shortness of breath
• Wheezing
• Digestive tract problems may include:
• Difficulty swallowing
• Esophageal reflux or heartburn
• Bloating after meals
• Constipation
• Diarrhea
• Problems controlling stools

Scleroderma Diagnosis

A full physical exam may show:

• Tight, thick skin on the fingers, the face or elsewhere.
• The skin at the edge of the fingernails may be looked at with a lighted magnifying glass for abnormalities of the small blood vessels.
• The lungs, heart and abdomen will be examined for abnormalities.

Scleroderma can cause small blood vessels in the kidneys to become narrowed. Problems with your kidneys can lead to high blood pressure and decrease function of the kidney.

Blood and urine tests may include:

• Antinuclear antibody (ANA) panel
• Scleroderma antibody testing
• ESR (sed rate)
• Rheumatoid factor
• Complete blood count
• Metabolic panel, including creatinine
• Heart muscle tests
• Urinalysis

Other tests may include:

• Chest x-ray
• CT scan of the lungs
• Electrocardiogram (ECG)
• Echocardiogram
• Tests to see how well your lungs and gastrointestinal (GI) tract are working
• Skin biopsy

Scleroderma Treatment

There is one no specific treatment for scleroderma. Your provider will assess the extent of disease in the lungs, kidneys, heart, and gastrointestinal tract.

You will be prescribed medicines and other treatments to control your symptoms and prevent complications.

Medicines used to treat scleroderma include:

• Corticosteroids such as prednisone: Doses above 10 mg per day are not recommended.
• Drugs that suppress the immune system such as methotrexate or mycophenolate.
• Nonsteroidal anti-inflammatory drugs (NSAIDs) for short periods.
• Hydroxychloroquine to treat arthritis.

Other treatments for specific symptoms may include:

• Treatments to improve Raynaud phenomenon: These include medicines, gloves to keep the hands warm, and not smoking.
• Medicines for heartburn or swallowing problems, such as omeprazole.
• Blood pressure medicines, such as ACE inhibitors, for high blood pressure or kidney problems.
• Light therapy to relieve skin thickening.
• Medicines to improve lung function, such as bosentan and sildenafil.