Scleroderma

This group of rare diseases involves the hardening and tightening of the skin and connective tissues. Some forms can affect internal organs.

Scleroderma (sklair-oh-DUR-muh) is a group of rare diseases that involve the hardening and tightening of the skin and connective tissues.

Scleroderma affects women more often than men and most commonly occurs between the ages of 30 and 50. While there is no cure for scleroderma, a variety of treatments can ease symptoms and improve quality of life.

There are many different types of scleroderma. In some people, scleroderma affects only the skin. But in many people, scleroderma also harms structures beyond the skin, such as blood vessels, internal organs and the digestive tract (systemic scleroderma). Signs and symptoms vary, depending on which type of scleroderma you have.

Scleroderma's signs and symptoms vary, depending on which parts of your body are affected:

• Skin. Nearly everyone who has scleroderma experiences a hardening and tightening of patches of skin. These patches may be shaped like ovals or straight lines, or cover wide areas of the trunk and limbs. The number, location and size of the patches vary by type of scleroderma. Skin can appear shiny because it's so tight, and movement of the affected area may be restricted.
• Fingers or toes. One of the earliest signs of systemic scleroderma is Raynaud's disease, which causes the small blood vessels in your fingers and toes to contract in response to cold temperatures or emotional distress. When this happens, your fingers or toes may turn blue or feel painful or numb. Raynaud's disease also occurs in people who don't have scleroderma.
• Digestive system. Scleroderma can cause a variety of digestive symptoms, depending on which part of the digestive tract is affected. If the esophagus is affected, you might have heartburn or difficulty swallowing. If the intestines are affected, you might have cramps, bloating, diarrhea or constipation. Some people who have scleroderma may also have problems absorbing nutrients if their intestinal muscles aren't properly moving food through the intestines.
• Heart, lungs or kidneys. Scleroderma can affect the function of the heart, lungs or kidneys to varying degrees. These problems, if left untreated, can become life-threatening.

Scleroderma results from an overproduction and accumulation of collagen in body tissues. Collagen is a fibrous type of protein that makes up your body's connective tissues, including your skin.

Doctors don't know exactly what causes the abnormal collagen production to begin, but the body's immune system appears to play a role. Most likely, scleroderma is caused by a combination of factors, including immune system problems, genetics and environmental triggers.

Anyone can get scleroderma, but it does occur much more often in women than in men. Several combined factors appear to influence the risk of developing scleroderma:

• Genetics. People who have certain gene variations appear to be more likely to develop scleroderma. This may explain why a small number of scleroderma cases appear to run in families and why certain types of scleroderma are more common for certain ethnic groups. For example, Choctaw Native Americans are more likely to develop the type of scleroderma that affects internal organs.
• Environmental triggers. Research suggests that, in some people, scleroderma symptoms may be triggered by exposure to certain viruses, medications or drugs. Repeated exposure — such as at work — to certain harmful substances or chemicals also may increase the risk of scleroderma.
• Immune system problems. Scleroderma is believed to be an autoimmune disease. This means that it occurs in part because the body's immune system begins to attack the connective tissues. In 15 to 20 percent of cases, a person who has scleroderma also has symptoms of another autoimmune disease, such as rheumatoid arthritis, lupus or Sjogren's syndrome.

Scleroderma complications range from mild to severe and can affect your:

• Fingertips. The variety of Raynaud's disease that occurs with systemic scleroderma can be so severe that the restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores. In some cases, the tissue on the fingertips may die and require amputation.
• Lungs. Scarring of lung tissue can result in reduced lung function, which can impact your ability to breathe and tolerance for exercise. You may also develop high blood pressure in the arteries to your lungs.
• Kidneys. When scleroderma affects your kidneys, you can develop elevated blood pressure and an increased level of protein in your urine. More-serious effects of kidney complications may include renal crisis, which involves a sudden increase in blood pressure and rapid kidney failure.
• Heart. Scarring of heart tissue increases your risk of abnormal heartbeats and congestive heart failure, and can cause inflammation of the membranous sac surrounding your heart. Scleroderma can also raise the pressure on the right side of your heart and cause it to wear out.
• Teeth. Severe tightening of facial skin can cause your mouth to become smaller and narrower, which may make it hard to brush your teeth or to even have them professionally cleaned. People who have scleroderma often don't produce normal amounts of saliva, so the risk of dental decay increases even more.
• Digestive system. Digestive problems associated with scleroderma can lead to heartburn and difficulty swallowing. It can also cause bouts of cramps, bloating, constipation or diarrhea.
• Sexual function. Men who have scleroderma may experience erectile dysfunction. Scleroderma may also affect the sexual function of women by decreasing sexual lubrication and constricting the vaginal opening.

Because scleroderma can take so many forms and affect so many different areas of the body, it can be difficult to diagnose.

After a thorough physical exam, your doctor may suggest blood tests to check for elevated levels of certain antibodies produced by the immune system. He or she may also remove a small sample of your affected skin so that it can be examined in the laboratory.

Your doctor may also suggest other blood tests and imaging or organ-function tests to help determine whether your digestive system, heart or lungs are affected.

In some cases, the skin problems associated with scleroderma fade away on their own in two to five years. The type of scleroderma that affects internal organs usually worsens with time.

Medications

There is no medication that can cure or stop the overproduction of collagen that is characteristic of scleroderma. But a variety of medications can help control scleroderma symptoms and prevent complications. For example, your doctor may recommend medications to:

• Treat or slow skin changes. Steroid creams or pills may help reduce swelling and joint pain, loosen stiff skin, and slow the development of new skin changes.
• Dilate blood vessels. Blood pressure medications that dilate blood vessels may help prevent lung and kidney problems and may help treat Raynaud's disease.
• Suppress the immune system. Drugs that suppress the immune system, such as those taken after organ transplants, may help reduce scleroderma symptoms.
• Reduce digestive symptoms. Pills to reduce stomach acid can help relieve heartburn. Antibiotics and medications that help move food through the intestines may help reduce bloating, diarrhea and constipation.
• Prevent infections. Antibiotic ointment, cleaning and protection from the cold may help prevent infection of fingertip ulcers caused by Raynaud's disease. Regular influenza and pneumonia vaccinations can help protect lungs that have been damaged by scleroderma.
• Relieve pain. If over-the-counter pain relievers don't help enough, you can ask your doctor to prescribe stronger medications.

Therapies

Physical or occupational therapists can help you:

• Manage pain
• Improve your strength and mobility
• Maintain independence with daily tasks

Surgery

Used as a last resort, surgical options for scleroderma complications may include:

• Amputation. If finger sores caused by severe Raynaud's disease have progressed to the point that the fingertip tissue begins to die, amputation may be necessary.
• Lung transplants. People who have developed severe lung problems may be candidates for lung transplants.

You can take a number of steps to help manage your symptoms of scleroderma:

• Stay active. Exercise keeps your body flexible, improves circulation and relieves stiffness. Range-of-motion exercises can help keep your skin and joints flexible.
• Protect your skin. Take good care of dry or stiff skin by using lotion and sunscreen regularly. Avoid hot baths and showers and exposure to strong soaps and household chemicals, which can irritate and further dry out your skin.
• Don't smoke. Nicotine causes blood vessels to contract, making Raynaud's disease worse. Smoking can also cause permanent narrowing of your blood vessels, and cause or exacerbate lung problems. Quitting smoking is difficult — ask your doctor for help.
• Manage heartburn. Avoid foods that give you heartburn or gas. Also avoid late-night meals. Elevate the head of your bed to keep stomach acid from backing up into your esophagus as you sleep. Antacids may help relieve symptoms.
• Protect yourself from the cold. Wear warm mittens for protection anytime your hands are exposed to cold — even when you reach into a freezer. When you're outside in the cold, cover your face and head and wear layers of warm clothing.

As is true with other chronic diseases, living with scleroderma can place you on a roller coaster of emotions. Here are some suggestions to help you even out the ups and downs:

• Maintain normal daily activities as best you can.
• Pace yourself and be sure to get the rest that you need.
• Stay connected with friends and family.
• Continue to pursue hobbies that you enjoy and are able to do.

Keep in mind that your physical health can have a direct impact on your mental health. Denial, anger and frustration are common with chronic illnesses.

At times, you may need additional tools to deal with your emotions. Professionals, such as therapists or behavior psychologists, may be able to help you put things in perspective. They can also help you develop coping skills, including relaxation techniques.

Joining a support group, where you can share experiences and feelings with other people, is often a good approach. Ask your doctor what support groups are available in your community.

You'll probably first bring your symptoms to the attention of your family doctor, who may refer you to a doctor who specializes in the treatment of arthritis and other diseases of the joints, muscles and bone (rheumatologist). Because scleroderma can affect many organ systems, you may need to see a variety of medical specialists.

What you can do

Time with your doctors may be brief. To make the best use of the limited time, plan ahead and write lists of important information, including:

• Detailed descriptions of all your symptoms
• A list of all your medications and dosages, including nonprescription drugs and supplements
• Questions for the doctor, such as what tests or treatments he or she may recommend

What to expect from your doctor

Your doctor may ask some of the following questions:

• Do your fingers become numb or change colors when you get cold or upset?
• Do you regularly experience heartburn or swallowing problems?
• Have your parents or siblings ever had similar signs and symptoms?

Last Updated:

December 24th, 2020