Overview

Overview of Scleroderma

Scleroderma is an autoimmune connective tissue and rheumatic disease that causes inflammation in the skin and other areas of the body. When an immune response tricks tissues into thinking they are injured, it causes inflammation, and the body makes too much collagen, leading to scleroderma. Too much collagen in your skin and other tissues causes patches of tight, hard skin. Scleroderma involves many systems in your body. The following definitions can help you better understand how the disease affects each of those systems.

  • A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage. Connective tissue supports, protects, and provides structure to other tissues and organs.
  • Autoimmune diseases happen when the immune system, which normally helps protect the body from infection and disease, attacks its own tissues.
  • Rheumatic disease refers to a group of conditions characterized by inflammation or pain in the muscles, joints, or fibrous tissue.

There are two major types of scleroderma:

  • Localized scleroderma only affects the skin and the structures directly under the skin.
  • Systemic scleroderma, also called systemic sclerosis, affects many systems in the body. This is the more serious type of scleroderma and can damage your blood vessels and internal organs, such as the heart, lungs, and kidneys.

There is no cure for scleroderma. The goal of treatment is to relieve symptoms and stop the progression of the disease. Early diagnosis and ongoing monitoring are important.

What happens in scleroderma?

The cause of scleroderma is unknown. However, researchers think that the immune system overreacts and causes inflammation and injury to the cells that line blood vessels. This triggers connective tissue cells, especially a cell type called fibroblasts, to make too much collagen and other proteins. The fibroblasts live longer than normal, causing a buildup of collagen in the skin and other organs, leading to the signs and symptoms of scleroderma.

Who Gets

Who Gets Scleroderma?

Anyone can get scleroderma; however, some groups have a higher risk of developing the disease. The following factors may affect your risk.

  • Sex. Scleroderma is more common in women than in men.
  • Age. The disease usually appears between the ages of 30 and 50 and is more common in adults than children.
  • Race. Scleroderma can affect people of all races and ethnic groups, but the disease can affect African Americans more severely. For example: 
    • The disease is more common in African Americans than European Americans.
    • African Americans with scleroderma develop the disease earlier when compared with other groups.
    • African Americans are more likely to have more skin involvement and lung disease when compared with other groups.

Types

Types of Scleroderma

  • Localized scleroderma affects the skin and underlying tissues and generally appears in one or both of these patterns:
    • Morphea, or patches of scleroderma that may be a half-inch or larger in diameter.
    • Linear scleroderma, when the scleroderma thickening occurs in a line. This usually extends down an arm or leg, but sometimes runs down the forehead and face.
  • Systemic scleroderma, sometimes called systemic sclerosis, affects your skin, tissues, blood vessels, and major organs. Doctors usually divide systemic scleroderma into two types:
    • Limited cutaneous scleroderma, which comes on gradually and affects the skin on your fingers, hands, face, lower arms, and legs below the knees.
    • Diffuse cutaneous scleroderma, which comes on more rapidly and starts as being limited to the fingers and toes, but then extends beyond the elbows and knees to the upper arms, trunk, and thighs. This type usually has more internal organ damage.  
Types of Scleroderma

 

Symptoms

Symptoms of Scleroderma

The symptoms of scleroderma vary from person to person depending on the type of scleroderma you have.

Localized scleroderma typically causes patches of thick, hard skin in one of two patterns.

  • Morphea causes patches of skin to thicken into firm, oval-shaped areas. These areas may have a yellow, waxy appearance surrounded by a reddish or bruise-like edge. The patches may stay in one area or spread to other areas of skin. The disease usually becomes inactive after over time, but you may still have darkened patches of skin. Some people also develop fatigue (feeling tired).
  • Linear scleroderma causes lines of thickened or different colored skin to run down your arm, leg, and, rarely, on the forehead.

Systemic scleroderma, also known as systemic sclerosis, may come on quickly or gradually and may also cause problems with your internal organs in addition to the skin. Many people with this type of scleroderma have fatigue.

  • Limited cutaneous scleroderma comes on gradually and usually affects skin on your fingers, hands, face, lower arms, and legs below the knees. It can also cause problems with your blood vessels and esophagus. The limited form has internal organ involvement, but it is generally milder than in the diffuse form. People with limited cutaneous scleroderma often have all or some of the symptoms that some doctors call CREST, which stands for the following symptoms:
    • Calcinosis, the formation of calcium deposits in the connective tissues, which can be detected by x-ray.
    • Raynaud’s phenomenon, a condition in which the small blood vessels of the hands or feet contract in response to cold or anxiety, causing color changes in fingers and toes (white, blue, and/or red).
    • Esophageal dysfunction, which refers to the impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement.
    • Sclerodactyly, which is thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers.
    • Telangiectasia, a condition caused by the swelling of tiny blood vessels, in which small red spots appear on the hands and face.
  • Diffuse cutaneous scleroderma comes on suddenly, usually with skin thickening on your fingers or toes. The skin thickening then spreads to the rest of your body above the elbows and/or knees. This type can damage your internal organs, such as:
    • Anywhere along your digestive system.
    • Your lungs.
    • Your kidneys.
    • Your heart.

Although CREST historically refers to the limited scleroderma, people with the diffuse form of scleroderma can also have CREST features.

Causes

Causes of Scleroderma

Researchers do not know the exact cause of scleroderma, but they suspect that several factors may contribute to the disease:

  • Genetic makeup. Genes can increase the chance for certain people to develop scleroderma and play a role determining the type of scleroderma they have. You cannot inherit the disease, and it is not passed from parent to child like some genetic diseases. However, first-degree relatives of people with scleroderma are at higher risk of developing scleroderma than the general population.
  • Environment. Researchers suspect that exposure to some environmental factors, such as viruses or chemicals, may trigger scleroderma.
  • Immune system changes. Abnormal immune or inflammatory activity in your body triggers cell changes that cause the production of too much collagen.
  • Hormones. Women develop most types of scleroderma more often than men. Researchers suspect that hormonal differences between women and men might play a part in the disease.

Diagnosis

Diagnosis of Scleroderma

It can be difficult for doctors to diagnose scleroderma because the symptoms vary from person to person and are similar to other diseases. There is no single test to diagnose the disease; instead doctors use a combination of the following to help diagnose scleroderma. Your doctor may:

  • Ask about your medical history.
  • Ask about your current and past symptoms.
  • Perform a physical exam.

Your doctor may recommend additional testing such as:

  • Ordering laboratory tests to check for certain antibodies that mistakenly target and react to your own tissues. Some of the antibodies may be common in people with scleroderma. However, antibodies may develop due to other factors, so a blood test alone does not diagnose scleroderma.
  • Performing a skin biopsy.

If you have symptoms that suggest problems with organs, such as the heart, lungs, or kidneys, your doctor may order additional testing. Early diagnosis of organ involvement helps doctors treat and manage the disease. Testing may include:

  • Computerized tomography (CT), which uses a scanner to take images of the lungs and other organs.
  • Echocardiogram, which uses sound waves to create moving pictures of your heart.

Treatment

Treatment of Scleroderma

Your treatment depends on the type of scleroderma you have, your symptoms, and which tissues and organs are affected. Treatment can help control the symptoms and limit damage.

Your doctor may recommend medications, including:

  • Anti-inflammatory medications to manage pain and reduce swelling.
  • Corticosteroid topical creams to treat skin changes, including tightness and itching.
  • Corticosteroids given by mouth, injection, or intravenous (IV) infusion to help manage joint pain or inflammation. Because they are potent medications, your doctor will prescribe the lowest dose possible to achieve the desired benefit and to avoid side effects.
  • Immunosuppressants, which may suppress the overactive immune system and can help control symptoms of the disease. Your doctor may prescribe oral, IV, or topical immunosuppressants.
  • Vasodilators to help blood vessels dilate (widen), which may prevent lung and kidney damage and treat Raynaud’s phenomenon.

In addition, your doctor may prescribe medications that are typically approved to treat other rheumatic diseases that have similar symptoms to scleroderma.

Many people benefit from physical or occupational therapy to:

  • Relieve pain.
  • Improve muscle strength and mobility, including muscles in your arms, legs, and jaw.
  • Teach you techniques to help with activities of daily living. For example, if hand pain and stiffness make it hard to brush your teeth, a therapist can recommend toothbrushes and devices to make flossing easier.

Regular dental care is important because scleroderma can make your mouth dry and damage connective tissues in your mouth, speeding up tooth decay and causing your teeth to become loose. Tightening facial skin can also make your mouth opening smaller and narrower, which makes it harder to care for your teeth. Here are some ways to avoid tooth and gum problems:

  • Brush and floss your teeth regularly.
  • Have regular dental checkups. Contact your dentist immediately if you experience mouth sores, mouth pain, or loose teeth.
  • Talk to your dentist and doctor about the best methods for you to use to keep your mouth moist.
  • Use special mouthwashes or toothpastes for dry mouth. You can also talk to your doctor about medications that treat dry mouth.

Systemic scleroderma may affect internal organs and cause damage. Doctors determine the best treatment based on which organ is affected.

Lung Damage

Almost all people with systemic scleroderma have some loss of lung function. Some people develop severe lung disease, which comes in two forms:

  • Pulmonary fibrosis, a hardening or scarring of lung tissue because of excess collagen.
  • Pulmonary hypertension, high blood pressure in the artery that carries blood from the heart to the lungs.

Treatment differs for these two conditions:

  • Pulmonary fibrosis may be treated with medications that suppress the immune system, including a recently approved kinase inhibitor, which can help counter fibrosis.
  • Pulmonary hypertension may be treated with medications that dilate the blood vessels or with newer medications that are prescribed specifically for treating pulmonary hypertension.

To help minimize lung complications, work closely with your doctor.

  • Watch for signs of lung disease, including fatigue, shortness of breath, dry cough, or difficulty breathing, and swollen feet. Report these symptoms to your doctor.
  • Follow up regularly with your doctor for evaluation of your lung function. This may include standard lung function tests, which measure your lung volumes to monitor the course of lung fibrosis. Checking for pulmonary hypertension early helps doctors manage and treat the condition, even before you may notice symptoms.
  • Get regular flu and pneumonia vaccines as recommended by your doctor.

Heart Problems

Some people may develop complications that cause heart problems, including:

  • Cardiomyopathy, scarring and weakening of the heart.
  • Myocarditis, inflamed heart muscle.
  • Arrhythmia, abnormal heartbeat.

Treatments for heart complications can range from medications to surgery and vary depending on the nature of the condition.

Kidney Problems

Renal crisis is uncommon but can be serious for people with systemic scleroderma. Renal crisis happens when blood pressure levels rise suddenly to dangerous levels, which can quickly lead to kidney failure. Side effects of certain medications, such as corticosteroids, can also trigger renal crisis. It is important that you and your doctor work together to monitor your blood pressure, including:

  • Check your blood pressure regularly, and let your doctor know if you have any new or different symptoms such as a headache or shortness of breath. If your blood pressure is higher than usual, call your doctor right away.
  • If you have kidney problems, remember to take your medications as prescribed. In the past two decades, medications known as ACE (angiotensin-converting enzyme) inhibitors have made scleroderma-related kidney failure a less threatening problem than it used to be.

Who Treats

Who Treats Scleroderma?

Most people will see a rheumatologist for scleroderma treatment. A rheumatologist is a doctor who specializes in rheumatic diseases such as arthritis and other inflammatory or autoimmune disorders. Dermatologists, who specialize in conditions of the skin, hair, and nails, play an important role in treating the disease, particularly for people with localized scleroderma.

Because scleroderma can affect many different organs and organ systems, you may have several different doctors providing your care. These health care providers may include:

  • Cardiologists, who specialize in treating diseases of the heart and blood vessels.
  • Dental providers, who can treat complications from the thickening of tissues of the mouth and face.
  • Gastroenterologists, who treat digestive problems.
  • Mental health professionals, who provide counseling and treat mental health disorders such as depression and anxiety.
  • Nephrologists, who treat kidney disease.
  • Occupational therapists, who teach how to safely perform activities of daily living.
  • Orthopaedists, who treat and perform surgery for bone and joint diseases or injuries.
  • Primary care providers, including physicians, nurse practitioners, and physician assistants.
  • Physical therapists, who teach ways to build muscle strength.
  • Pulmonologists, who treat lung disease and problems.
  • Speech-language pathologists, who specialize in the treatment of speech and communication disorders.

Living With

Living With Scleroderma

Depending on the type of scleroderma you have and your symptoms, living with the disease may be hard. To help, try to take an active part in treating your scleroderma. The following tips and suggestions may help.

  • Keep warm. Your body regulates its temperature through the skin. So, dress in layers, wear gloves and socks, and avoid cold rooms and weather when possible.
  • Try to avoid cold or wet environments that may trigger Raynaud’s phenomenon symptoms.
  • If you smoke, quit. Nicotine and smoking cause blood vessels to contract, which can make some symptoms worse and cause lung problems.
  • Apply sunscreen before you go outdoors to protect against further damage from the sun’s rays.
  • Use moisturizers on your skin to help lessen stiffness.
  • Use humidifiers to moisten the air in your home in colder winter climates. Clean humidifiers often to stop bacteria from growing in the water.
  • Avoid hot baths and showers, as hot water dries the skin.
  • Avoid harsh soaps, household cleaners, and caustic chemicals. Wear rubber gloves if you use such products.
  • Exercise regularly. Exercise, especially swimming, stimulates blood circulation to affected areas.
  • Visit the dentist regularly for check-ups.
  • Reach out to online and community support groups.
  • Keep the lines of communication open. Talk to your family and friends to help them understand the disease.
  • Talk to a mental health professional for help with coping with a chronic illness. 

Some types of scleroderma can affect parts of the digestive system. Doctors may prescribe heartburn, constipation, and motility medications to help manage these symptoms. Here are some tips to help if you have digestive symptoms:

  • Eat small, frequent meals.
  • After meals, stay upright for 3 hours. Try to avoid reclining or slouching.
  • Eat moist, soft foods, and chew them well. If you have difficulty swallowing or if your body doesn’t absorb nutrients properly, your doctor may prescribe a special diet.
  • Drink less alcohol and caffeine.
  • Stay hydrated.
  • When it is time to sleep, raise the head of your bed with blocks. Using several pillows is not as helpful as raising the head of the bed by using blocks or special wedges. 

Research Progress

Research Progress Related to Scleroderma

NIAMS is funding and conducting research to find better ways to treat symptoms, prevent organ damage, and improve the quality of life for people with scleroderma. Multidisciplinary research has also provided new clues for understanding the disease, which is an important step toward prevention and finding a cure.

Studies of the immune system, genetics, cell biology, and molecular biology have helped reveal the causes of scleroderma, improve existing treatment, and create entirely new treatment approaches.

NIAMS is studying genomics and health disparities to better understand the genetic risk factors and molecular basis of scleroderma. Here are some other areas of ongoing research:

  • Researchers are looking at the complex immune system, trying to determine why the body creates antibodies against its own tissues. Identifying where and when the antibodies are created and how they function could lead researchers to find targets for new therapies. Researchers are already trying new therapies, including those that suppress specific parts of the immune system.
  • Studies continue to find the genes that predispose a person to getting scleroderma. Those genes may be targets for future therapies. Researchers are also trying to find genes (and other indicators) that could tell doctors who will develop what type of scleroderma. This could someday help doctors identify who might benefit from specific therapies. Additionally, since genes are not the only factor involved in scleroderma, researchers are looking for environmental factors that might trigger the disease in those who are genetically predisposed.
  • Studies continue to evaluate how immunosuppressant medications can be used to help manage the symptoms and complications of scleroderma, in particular focusing on pulmonary complications.
  • Some scientists are trying to make better medications to treat scleroderma and its symptoms. Other researchers are testing existing medications to see if they are successful in delaying cardiovascular changes.
  • Researchers are looking into the many factors that lead to fibrosis to see if they can block its development.
  • Studies have shown that certain chemicals called cytokines, made from cells in the body, contribute to inflammation. Researchers are trying to determine how cytokines contribute to the disease process.

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