Scleroderma

Overview

Scleroderma (sklair-oh-DUR-muh), also known as systemic sclerosis, is a group of rare diseases that involve the hardening and tightening of the skin. Scleroderma also may cause problems in the blood vessels, internal organs and digestive tract.

Scleroderma is often categorized as limited or diffuse, which refers only to the degree of skin involvement. Both types can involve any of the other vascular or organ symptoms that are part of the disease. Localized scleroderma, also known as morphea, affects only the skin.

While there is no cure for scleroderma, treatments can ease symptoms, slow progression and improve quality of life.

Symptoms

Scleroderma symptoms vary from person to person, depending on which parts of the body are affected.

Skin-related symptoms

Nearly everyone who has scleroderma experiences hardening and tightening of the skin.

The first parts of the body to be affected are usually the fingers, hands, feet and face. In some people, the skin thickening also can involve the forearms, upper arms, chest, abdomen, lower legs and thighs. Early symptoms may include swelling and itchiness. The color of affected skin can become lighter or darker, and skin may look shiny because of the tightness.

Some people also have small red spots, called telangiectasia, on their hands and face. Calcium deposits can form under the skin, particularly at the fingertips, causing bumps that can be seen on X-rays.

Raynaud's phenomenon

Raynaud's phenomenon is common in scleroderma. It happens because of an exaggerated contraction of the small blood vessels in the fingers and toes in response to cold temperatures or emotional distress. When this happens, the digits may feel painful or numb and turn white, blue, gray or red. Raynaud's phenomenon also can occur in people who don't have scleroderma.

Digestive symptoms

Scleroderma can affect any part of the digestive system, from the esophagus to the rectum. Depending on which parts of the digestive system are affected, symptoms may include:

• Heartburn.
• Difficulty swallowing.
• Bloating.
• Diarrhea.
• Constipation.
• Fecal incontinence.

Heart- and lung-related symptoms

When scleroderma affects the heart or lungs, it can cause shortness of breath, decreased exercise tolerance and dizziness. Scleroderma can cause scarring in the lung tissues that may result in increasing shortness of breath over time. There are medicines that may help slow the progression of this lung damage.

Scleroderma also can cause the blood pressure to increase in the circulation that goes between the heart and the lungs. This is called pulmonary hypertension. In addition to causing shortness of breath, pulmonary hypertension also can cause excess fluid to build up in the legs, feet and sometimes around the heart.

When scleroderma affects the heart, heartbeats can become irregular. Heart failure also may happen in some people.

Causes

Scleroderma happens when the body produces too much collagen and it builds up in body tissues. Collagen is a fibrous type of protein that makes up the body's connective tissues, including the skin.

Experts don't know exactly what causes this process 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.

Risk factors

Anyone can get scleroderma, but it is more common in people assigned female at birth. People typically get scleroderma between ages 30 and 50. Black people often have earlier onset and are more likely to have more skin involvement and lung disease.

Several other combined factors appear to influence the risk of having scleroderma:

• Genetics. People who have certain gene changes appear to be more likely to develop scleroderma. This may explain why scleroderma appears to run in families in a small number of people and why some types of scleroderma are more common for people in certain racial and ethnic groups.
• Environmental triggers. Research suggests that in some people, scleroderma symptoms may be triggered by exposure to certain viruses, medicines or drugs. Repeated exposure, such as at work, to certain harmful substances or chemicals also may increase the risk of scleroderma. An environmental trigger is not identified for most people.
• Immune system conditions. 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. People who have scleroderma also may have symptoms of another autoimmune disease such as rheumatoid arthritis, lupus or Sjogren syndrome.

Complications

Scleroderma complications range from mild to serious and can affect the:

• Fingertips. In systemic sclerosis, Raynaud's phenomenon can become so severe that the restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores. In some people, the tissue on the fingertips may die.
• Lungs. Scarring of lung tissue can impact the ability to breathe and tolerance for exercise. High blood pressure in the arteries to the lungs also may happen.
• Kidneys. A serious kidney complication, called scleroderma renal crisis, involves a sudden increase in blood pressure and rapid kidney failure. Prompt treatment of this condition is important to preserve kidney function.
• Heart. Scarring of heart tissue increases the risk of irregular heartbeats and heart failure. Scleroderma also can cause inflammation of the sac surrounding the heart.
• Teeth. Serious tightening of facial skin can cause the mouth to become smaller and narrower. This may make it hard to brush the teeth or to have them professionally cleaned or restored. People who have scleroderma often don't make typical amounts of saliva, so the risk of dental decay increases even more.
• Digestive system. Digestive complications of scleroderma can include heartburn and difficulty swallowing. Scleroderma also can cause bouts of cramps, bloating, constipation or diarrhea. Some people who have scleroderma also may have problems absorbing nutrients due to overgrowth of bacteria in the intestine.
• Joints. The skin over joints can become so tight that it restricts flexibility and movement, particularly in the hands.

Diagnosis

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 healthcare professional may suggest blood tests to check for elevated levels of certain antibodies made by the immune system.

Your healthcare professional also may suggest other blood tests, imaging or organ function tests. These tests may help determine whether your digestive system, heart, lungs or kidneys are affected.

Treatment

There is no treatment that can cure or stop the overproduction of collagen that happens in scleroderma. But a variety of treatments can help control symptoms and prevent complications.

Medicines

Because scleroderma can affect so many different parts of the body, the choice of medicine varies depending on the symptoms. Examples include medicines that:

• Dilate blood vessels. Blood pressure medicines that dilate blood vessels may help treat Raynaud's phenomenon.
• Suppress the immune system. Medicines that suppress the immune system, such as those taken after organ transplants, may help reduce progression of some scleroderma symptoms, such as the thickening of the skin or worsening of lung damage.
• Reduce digestive symptoms. Pills to reduce stomach acid can help relieve heartburn. Antibiotics and medicines that help move food through the intestines may help reduce bloating, diarrhea and constipation.
• Prevent infections. Recommended vaccinations are important to protect people with scleroderma from infectious diseases. Talk with your healthcare professional about vaccines for influenza, pneumonia, shingles, HPV, COVID-19 and RSV.
• Relieve pain. If pain relievers available without a prescription don't help enough, your healthcare professional might suggest prescription medicines to control pain.

Therapies

Physical or occupational therapists can help you improve your strength and mobility and maintain independence with daily tasks. Hand therapy may help prevent hand stiffness, also called contractures.

Surgical and other procedures

Stem cell transplants might be an option for people who have serious symptoms that haven't responded to more-common treatments. If the lungs or kidneys have been badly damaged, organ transplants might be considered.

Lifestyle and home remedies

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

• Stay active. Exercise keeps your body flexible, improves circulation and eases stiffness. Range-of-motion exercises can help keep your skin and joints flexible. This is always very important, especially early in the disease course.
• 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 phenomenon worse. Smoking also can cause permanent narrowing of the blood vessels and cause or worsen lung problems. Quitting smoking can be difficult. Ask your healthcare professional 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. It also is important to keep your core body temperature warm to help prevent Raynaud's phenomenon. When you're outside in the cold, wear warm boots, cover your face and head, and wear layers of warm clothing.

Coping and support

As is true with other chronic diseases, living with scleroderma can cause you to feel anxious or worried. Here are some ideas to help you even out your feelings:

• Maintain your typical 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. People with chronic illnesses can feel denial, anger and frustration.

At times, you may need additional tools to deal with your emotions. Mental health professionals, such as therapists or behavior psychologists, may be able to help you put things in perspective. They also can 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 healthcare team what support groups are available in your community.

Preparing for an appointment

You'll probably first bring your symptoms to the attention of your family healthcare professional. You may be referred to a doctor who specializes in the treatment of arthritis and other diseases of the joints, muscles and bone. This type of doctor is called a 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 healthcare professionals 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 medicines and supplements, including the dosages.
• Questions for the healthcare professional, such as what tests or treatments you may need.

What to expect from your doctor

Your healthcare professional may ask some of the following questions:

• Do your fingers change colors when you get cold?
• Do you regularly experience heartburn or swallowing problems?
• Have you noticed any skin tightening or skin thickening?