Scleroderma means hard skin, although it affects the joints, blood vessels and organs. Also known as systemic sclerosis, scleroderma always affects the skin, causing hard, oval-shaped patches or streaks of thickened skin on the arms, legs and forehead. These patches can move inward to the bones and muscles.
Besides thickening and hardening of the skin, scleroderma can cause skin to lose elasticity and become shiny as it stretches across bones. Other symptoms include:
- Numbness, pain or color changes in fingers, toes, cheeks, nose and ears, often brought on by cold or emotional distress
- Stiffness or pain in joints, such as elbows and knuckles
- Digestive problems ranging from not absorbing nutrients well to delayed movement of food because the muscles of the intestines aren't working well.
- Sores over joints, such as elbows and knuckles
- Puffy hands and feet, particularly in the morning
Causes and Risk Factors
About 150,000 Americans have scleroderma. It is a rare disease that affects women five times more often than men, and it affects adults more than children. It can run in families, but it more often occurs without any known family tendency. It is not considered contagious or cancerous.
Scleroderma results from the production of too much collagen, a fibrous protein in connective tissues. The body's immune system appears to attack the body, causing inflammation and overproduction of collagen. There are different types of scleroderma, including:
- Diffuse, which affects the skin of fingers, hands, arms, legs, face, neck and trunk. The lungs, heart, digestive tract and kidneys may be affected. It can interfere with the working of the digestive system, create breathing problems and cause kidney failure. Untreated, it may be fatal within several years.
- Limited, which involves the skin of fingers, lower arms and legs, face and neck. One variation is CREST syndrome. CREST stands for: 1) calcinosis, skin calcification; 2) Raynaud's phenomenon; 3) esophageal dysfunction, reflux or difficulty in swallowing; 4) sclerodactyly, hardening of the skin of the fingers or toes, and 5) telangiectasia, dilatation of tiny blood vessels, particularly of the skin.
- Localized, which affects mainly skin and deep tissues beneath the skin
Localized scleroderma includes the following types:
- Morphea, in which oval-shaped thick patches appear on the skin. The ovals are white in the middle with a purple border. These patches are most likely to occur on the torso but can also appear on arms, legs or forehead.
- Linear, in which bands or streaks of hardened skin appear on one or both of arms or legs or on the forehead
- Overlap syndrome, which is a diffuse or limited systemic sclerosis with features of other connective tissue diseases. Mixed connective tissue disease (MCTD) is an overlap syndrome with features of scleroderma, lupus, polymyositis and rheumatoid arthritis. An antibody produced by the immune system that is directed against cellular proteins in the body is also present.
- Undifferentiated connective tissue disease, which has features of diffuse sclerosis, but there are no findings to make a definite diagnosis
- Sine scleroderma, which can be similar to either limited or diffuse scleroderma but does not affect the skin
Scleroderma can be difficult to identify because it's rare, and initially it can affect the skin and the joints, making it look like other diseases (such as rheumatoid arthritis or lupus).
To diagnose scleroderma, a doctor reviews the patient's medical history and performs a physical examination to look for thickened, hardened areas on the skin. The doctor checks the joints and tendons for changes in connective tissue beneath the skin and, because Raynaud's phenomenon is commonly a sign of scleroderma, checks the skin for color changes. The doctor may also need to perform:
- Blood tests. People with scleroderma have high blood levels of certain antibodies produced by the immune system.
- A biopsy or tissue sample. The doctor may remove a small sample of affected skin to be examined in a laboratory for abnormalities.
- Other diagnostic tests to check for lung, heart or digestive complications that can accompany scleroderma
- Digestive complications. Wasting can occur in the muscular walls of the intestine, reducing absorption of nutrients and movement within the intestine, which results in weight loss and malnutrition. When scleroderma affects the muscles lining the esophagus, heartburn can occur.
- Lung complications. Scarring of the lungs can cause breathing difficulties and reduced tolerance for exercise. Patients may also develop high blood pressure in the arteries to the lungs.
- Kidney complications. When scleroderma affects the kidneys, there may be a rise in blood pressure and protein levels in the urine. More serious complications include a renal crisis with a sudden increase in blood pressure and rapid kidney failure.
- Heart complications. Scarring of the heart increases the risk of heart arrhythmias and congestive heart failure. It can inflame the sac that covers the heart (pericarditis).
There is no known cure for scleroderma. Treatment options include:
- Drugs for the symptoms, which can make living with scleroderma easier. The doctor may also suggest ways to deal with complications that affect various organs.
- Moisturizers or corticosteroid creams to apply to the skin. Corticosteroids impede the body's ability to make substances that can cause inflammation.
- Systemic drugs to try halting the disease. These may include drugs to improve blood flow, promote esophagus and bowel function, protect kidney function and bring down high blood pressure.
- Calcium channel blockers. These help relax blood vessel muscles.
- Alpha blockers. These prevent muscle contractions in smaller arteries and lessen the effect of natural chemicals that narrow blood vessels.
- Angiotensin-converting enzyme (ACE) inhibitors. These help relax blood vessels by blocking the production of a natural chemical in the body that narrows blood vessels.
- Angiotensin II receptor blockers. These act work like ACE inhibitors, but they block the action of the chemical instead of the formation of the chemical itself.
- Low-dose enteric-coated aspirin. Aspirin reduces the blood's clotting action to help keep blood vessels open. The aspirin's coating stops the release and absorption of the aspirin until it reaches the intestines.
- Creams with nitroglycerin also may help promote circulation
Joint Stiffness and Pain
The doctor may prescribe anti-inflammatory drugs, such as aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs) or low-dose corticosteroids. Along with these, doctors often prescribe certain drugs called disease-modifying antirheumatic drugs (DMARDs), which seem to have an effect on out-of-control immune systems. Common DMARDs include:
- Hydroxychloroquine (Plaquenil). Developed as a treatment for malaria, this drug has relatively few side effects. Apart from its ability to affect the way immune cells work, scientists don't completely understand how it helps tame the disease process.
- Penicillamine (Cuprimine). Like other DMARDs, penicillamine can reduce inflammation over many months, but its helpful effects may last longer. A relatively high number of bad reactions to this drug have been reported, and studies have questioned its effectiveness. As a result, its use has fallen in recent years.
Another class of drugs, immunosuppressants, helps tame out-of-control immune systems. Some are cytotoxic, meaning they attack and kill cells associated with the disease. Some immunosuppressants the doctor may prescribe include:
- Methotrexate (Rheumatrex) affects cells that cause some of the pain, inflammation and joint swelling of scleroderma. Trials have shown conflicting results about its effectiveness.
- Cyclophosphamide (Cytoxan) is a powerful drug that works by damaging cells' genetic information. In particular, it kills lymphocytes that are part of autoimmune disease. Cyclophosphamide may be used to treat lung inflammation.
Drugs that make the stomach produce less acid may be helpful if the disease affects the esophagus and cause heartburn. These drugs include H-2 receptor blockers and proton-pump inhibitors. The doctor may also suggest antibiotics, special diets and drugs to improve the digestive organs' ability to contract.
Kidney Complications and High Blood Pressure
The best way to prevent kidney complications is to control high blood pressure, which may be accomplished through ACE inhibitors or angiotensin II receptor blockers.
The doctor may prescribe bosentan (Tracleer) for moderately severe pulmonary hypertension. This drug may improve the ability to exercise and slow the progression of pulmonary hypertension. Side effects may include liver damage, and pregnant women shouldn't take this drug.
The following steps can help manage symptoms:
- Staying active. Exercise keeps the body flexible, improves circulation and relieves stiffness. Range-of-motion exercises help keep the skin and joints flexible.
- Not smoking. Nicotine causes the blood vessels to contract, making Raynaud's phenomenon worse. Smoking can also permanently narrow blood vessels.
- Managing heartburn. Patients should avoid foods that cause heartburn or gas and should not eat within three to four hours before bedtime. Raising the head of the bed helps keep stomach acid from refluxing into the esophagus during sleep. Over-the-counter antacids can provide relief.
- Protection from the cold. Patients should wear warm mittens when their hands will be in cold temperatures, such as reaching into a freezer. When outside in the cold, layers of warm clothing should be worn, and the face and head should be covered.
Patients may benefit from physical and occupational therapy to help improve strength and mobility, manage pain and perform essential daily tasks.
As with other chronic diseases, living with scleroderma can put patients on an emotional roller coaster. To help even out the ups and downs, patients should:
- Maintain normal daily activities
- Pace activities and get as much rest as needed
- Stay connected with friends and family
- Pursue hobbies
- Seek ways around obstacles presented by scleroderma
- Remember that physical health can have a direct impact on mental health. Denial, anger and frustration are common with chronic diseases.
- Understand that emotional health has a powerful effect on your physical health. Chronic illnesses put people at higher risk for depression. Depression may not be a failure to cope but a disruption of body chemistry that can be treated medically. At times, patients may need tools to deal with emotions.
- Seek support from others facing similar challenges. Joining a support group where experiences and feelings can be shared with others is often a good approach. The patient's doctor can identify support groups are available in the community.