Scleroderma (Systemic Scleroderma)

Derived from the Greek words “sklerosis,” meaning hardness, and “derma,” meaning skin, scleroderma literally means hard skin. Scleroderma is a disease of the immune system involving the abnormal growth of connective tissue which supports the skin and internal organs. In some forms of scleroderma, hard, tight skin is the extent of this abnormal process. In other forms, however, the problem goes much deeper, affecting blood vessels and internal organs, such as the heart, lungs, and kidneys.

Scleroderma is called both a rheumatic (roo-MA-tik) disease and a connective tissue disease. The term rheumatic disease refers to a group of conditions characterized by inflammation and/or pain in the muscles, joints, or fibrous tissue. A connective tissue disease is one that affects the major substances in the skin, tendons, and bones.

Scleroderma is more common in women and affects people of all races and ethnic groups. An estimated 40,000 to 165,000 individuals suffer from scleroderma in the United States.

Scleroderma is typically categorized into localized and systemic disease.

The subtypes of localized and systemic scleroderma are detailed below.

Localized Scleroderma – Usually limited to the skin and related tissues, and in some cases the muscle below. Internal organs are not affected, and this will not progress to the systemic form of the disease. The skin may improve spontaneously or leave permanent scarring.

There are 2 generally recognized types of localized scleroderma.

  • Morphea: Local patches of scleroderma. The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth. Patches appear most often on the chest, stomach, and back. Sometimes they appear on the face, arms, and legs.
  • Linear scleroderma: A single line or band of thickened and/or abnormally colored skin. Usually, the line runs down an arm or leg, but in some people it runs down the forehead. People sometimes use the French term en coup de sabre, or “sword stroke,” to describe this highly visible line.

Systemic Scleroderma – Or systemic sclerosis is categorized into limited and diffuse disease. Limited scleroderma disease develops gradually and may affect the skin in the fingers, hands, face, lower arms and legs, whereas diffuse or systemic disease can affect the entire body. The array of other symptoms manifested by systemic disease involves tissue damage beneath the skin and blood vessels, leading to damage to major organs.

  • Limited scleroderma or CREST syndrome is described elsewhere (see link).
  • Diffuse scleroderma: Diffuse scleroderma typically comes on suddenly. Skin thickening occurs quickly and over much of the body, affecting the hands, face, upper arms, upper legs, chest, and stomach in a symmetrical fashion. Some people may have more area of their skin affected than others. Internally, it can damage key organs such as the heart, lungs, and kidneys.

Other symptoms include fatigue, weight loss, poor appetite and joint pain or swelling. Skin changes can cause the the skin to swell, appear shiny and feel tight and itchy. In some individuals, over time, the skin will “soften”, lose some of its thickness and return to normal. Whereas in other the skin will be fragile without hair or sweat glands.

People with diffuse scleroderma face the most serious long-term outlook if they develop severe kidney, lung, digestive, or heart problems. Fortunately, less than one-third of patients with diffuse disease develop these problems. Early diagnosis and continual and careful monitoring are important.

Sine scleroderma – Â Some doctors break systemic sclerosis down into a third subset called systemic sclerosis sine (SEEN-ay, Latin for “without”) scleroderma. Sine may resemble either limited or diffuse systemic sclerosis, causing changes in the lungs, kidneys, and blood vessels. However, there is one key difference between sine and other forms of systemic sclerosis: it does not affect the skin.

Causes

Although scientists don’t know exactly what causes scleroderma, they are certain that people cannot catch it from or transmit it to others. Studies of twins suggest it is also not inherited. The disease is not passed from parent to child like some genetic diseases. Scientists suspect that scleroderma comes from several factors that may include abnormal immune system activity, genetics, environment and likely hormones.

Diagnosis

A diagnosis of scleroderma is based largely on a thorough medical history and findings from the physical exam. Depending on your particular symptoms, a diagnosis of scleroderma may be made by a general internist, a dermatologist, an orthopaedist, a pulmonologist (lung specialist), or a rheumatologist.

Findings of physical exam may include:

  • Changed skin appearance and texture, including swollen fingers and hands and tight skin around the hands, face, mouth, or elsewhere.
  • Calcium deposits developing under the skin.
  • Changes in the tiny blood vessels (capillaries) at the base of the fingernails.
  • Thickened skin patches.

For a suspected diagnosis of scleroderma, laboratory testing may be ordered for confirm the diagnosis. At least two proteins, called antibodies, are commonly found in the blood of people with scleroderma:

  • Antitopoisomerase-1 or Anti-Scl-70 antibodies appear in the blood of up to 40 percent of people with diffuse systemic sclerosis.
  • Anticentromere antibodies are found in the blood of as many as 90 percent of people with limited systemic sclerosis.

Because not all people with scleroderma have these antibodies and because not all people with the antibodies have scleroderma, laboratory testing alone cannot confirm a diagnosis.

Treatment

Because scleroderma (limited or diffuse) may affect different organ systems, one may have several different doctors involved in their care. The care will typically be managed by a rheumatologist, a specialist who treats diseases of the joints, bones, muscles, and immune system. Your rheumatologist may refer you to other specialists, depending on the specific disease manifestation, including a dermatologist for the treatment of skin, a gastroenterologist for problems of the digestive tract, and a pulmonary specialist for lung involvement.

Currently, there is no treatment that controls or stops the underlying autoimmune procees; the overproduction of collagen Thus, treatment and management es focused on relieving symptoms and limiting damage. Your treatment will depend on the particular disease complications. This may include medications provided by your doctors or the use of lifestyle modifications to decrease symptoms.

 

The following are potential signs or symptoms that may arise during the course of systemic scleroderma. There are recommendations both medical and other to treat them.

[Note: This is not a complete listing of problems or their treatments. Different people experience different problems with scleroderma and not all treatments work equally well for all people. Work with your doctor to find the best treatment for your specific symptoms.]

Raynaud’s phenomenon:

  • One of the most common scleroderma-related symptoms. Raynaud’s phenomenon can be uncomfortable and can lead to painful skin ulcers on the fingertips. Smoking makes the condition worse. The following measures are recommended to prevent its complications:
  • Avoid smoking! Tobacco smoking narrows the blood vessels and may worsen Raynaud’s phenomenon.
  • Dress warmly, with special attention to hands and feet. Dress in layers, wear gloves and try to stay indoors during cold weather.
  • Use biofeedback (to control various body processes that are not normally thought of as being under conscious control) and relaxation exercises.
  • For severe cases, speak to your doctor about medications to help open the small blood vessels in the hands and improve circulation. Other drugs are in development and may become available in the future.
  • If Raynaud’s leads to skin sores or ulcers, antibiotic ointments will decrease your risk for infections. You may need to adjust your medications used to open the small blood vessels, discuss this with your doctor. Severe ulcerations on the fingertips can be treated with bioengineered skin.

Stiff, painful joints:

  • In diffuse systemic sclerosis, hand joints can stiffen because of hardened skin around the joints or inflammation of the joints themselves. The following may help:
  • Exercise regularly. Ask your doctor or physical therapist about an exercise program that will increase and maintain range of motion in affected joints. Swimming can help maintain muscle strength, flexibility, and joint mobility.
  • Acetaminophen or other over-the-counter or prescription nonsteroidal anti-inflammatory drug, as recommended by your doctor, may help relieve joint or muscle pain. Prescription-strength drugs may be necessarily to ease severe pain and inflammation.
  • Learn to do things in a new way. A physical or occupational therapist can help to modify the way you perform daily tasks, such as lifting and carrying objects or opening doors, in ways that puts less stress on painful and stiff joints.

Skin problems:

  • When too much collagen builds up in the skin, it crowds out sweat and oil glands, causing the skin to become dry and stiff. If your skin is affected, you may need to see a dermatologist. To ease dry skin, try the following:
  • Apply oil-based creams and ointments frequently, and always after bathing.
  • Apply sunscreen (SPF 50) with expected sun exposure.
  • 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 very hot baths and showers, as hot water dries the skin.
  • Avoid harsh soaps, household cleaners, and caustic chemicals. If not possible, be sure to wear rubber gloves when using such products.
  • Exercise regularly. Exercise, especially swimming, stimulates blood circulation to affected areas.

Dry mouth and dental problems:

  • Dental problems are common in people with scleroderma for a number of reasons. Tightening of the facial skin can make the mouth opening smaller and narrower, making dental care difficult. Dry mouth due to salivary gland damage speeds up tooth decay. Damage to connective tissues in the mouth can lead to loose teeth. You can avoid tooth and gum problems in several ways:
  • Brush and floss your teeth regularly. (If hand pain and stiffness make this difficult, consult your doctor or an occupational therapist about specialty toothbrush handles and devices.)
  • Regular dental checkups. Contact your dentist immediately if you experience mouth sores, mouth pain, or loose teeth.
  • If decay is a problem, ask your dentist about fluoride rinses or prescription toothpastes that remineralize and harden tooth enamel.
  • Consult a physical therapist about facial exercises to maintain mouth and face flexibility.
  • Keep your mouth moist by drinking plenty of water, sucking ice chips, using sugarless gum and hard candy, and avoiding mouthwashes with alcohol. If dry mouth still bothers you, ask your doctor about a saliva substitute or a prescription medication to stimulate the flow of saliva.

Gastrointestinal (GI) problems:

  • Systemic sclerosis can affect any part of the digestive system. As a result, you may experience heartburn, difficulty swallowing, early satiety (the feeling of being full after you’ve barely started eating), or diarrhea, constipation, and gas. In cases where the intestines are damaged, your body may have difficulty absorbing nutrients from food. Although GI problems vary, here are some things that might help at least some of the problems you have:
  • Eat small, frequent meals.
  • Raise the head of your bed with blocks, and stand or sit upright for at least an hour (preferably two or three) after eating to keep stomach contents from backing up into the esophagus.
  • Avoid late-night meals, spicy or fatty foods, and alcohol and caffeine, which can aggravate GI discomfort.
  • Chew foods well and eat moist, soft foods. If you have difficulty swallowing or if your body doesn’t absorb nutrients properly, your doctor may prescribe a special diet.
  • Ask your doctor about prescription medications for problems such as diarrhea, constipation, and heartburn. Drugs called proton pump inhibitors are highly effective for heartburn. Oral antibiotics may stop bacterial overgrowth in the bowel that can be a cause of diarrhea in some people with systemic sclerosis.

Lung damage:

  • About 10 to 15 percent of people with systemic sclerosis develop severe lung disease, which comes in two forms: pulmonary fibrosis (hardening or scarring of lung tissue because of excess collagen) and pulmonary hypertension (high blood pressure in the artery that carries blood from the heart to the lungs). Treatment for the two conditions is different.
  • Pulmonary fibrosis may be treated with drugs that suppress the immune system such as cyclophosphamide (Cytoxan) or mycophenolate (Cellcept), along with low doses of corticosteroids. There is a new class of anti-fibrotic medications available, inquire to your doctor whether these are right for you.
  • Pulmonary hypertension may be treated with drugs that dilate the blood vessels of the lungs.
  • Regardless of the problem or its treatment, your role in the treatment process is essentially the same, minimizing lung complications. It is imperative to work closely with your medical team and;
  • Watch for signs of lung disease, including fatigue, shortness of breath or difficulty breathing, and swollen feet. Report these symptoms to your doctor.
  • Have your lungs closely monitored, using standard lung-function tests. During the early stages of skin thickening these tests, can identify problems at the earliest and most treatable stages.
  • Get regular flu and pneumonia vaccines as recommended by your doctor. Contracting either illness could be dangerous for a person with lung disease.

Other organ systems may be involved including the heart and kidneys, these complications may be life-threatening. Consultation with a physician trained in the treatment of scleroderma should be made immediately.