Definition
Scleroderma is an autoimmune condition of the connective tissue characterized by skin thickening, spontaneous scarring, blood vessel disease, and varying degrees of inflammation, associated with an overactive immune system. It is characterized by the formation of scar tissue (fibrosis) in the skin. This leads to thickness and firmness of involved skin. This may also occur in internal organs such as the kidney.
Types of scleroderma
There are two major classifications of scleroderma: localized scleroderma and systemic sclerosis (SSc). Other forms or sub classifications, each with its own characteristics and prognosis.
Localized Scleroderma: the changes, which occur in localized scleroderma, are usually found in only a few places on the skin or muscles, and rarely spread elsewhere. Generally, it is relatively mild. The internal organs are usually not affected, and persons with localized scleroderma rarely develop systemic scleroderma.
- Morphea is a form of localized scleroderma characterized by waxy patches on the skin of varying sizes, shapes and color. The skin under the patches may thicken. The patches may enlarge or shrink, and often may disappear spontaneously. Morphea usually appears between the ages of 20 and 50, but is often seen in young children.
- Linear scleroderma is a form of localized scleroderma which frequently starts as a streak or line of hardened, waxy skin on an arm or leg or on the forehead. Sometimes it forms a long crease on the head or neck, referred to as en coup de sabre because it resembles a saber or sword wound. Linear scleroderma tends to involve deeper layers of the skin as well as the surface layers, and sometimes affects the motion of the joints, which lie underneath. It usually develops in childhood. In children, the growth of involved limbs may be affected.
Systemic scleroderma (systemic sclerosis): The changes occurring in systemic scleroderma may affect the connective tissue in many parts of the body. It can involve the skin, esophagus, gastrointestinal tract (stomach and bowels), lungs, kidneys, heart and other internal organs. It can also affect blood vessels, muscles and joints. The tissues of involved organs become hard and fibrous, causing them to function less efficiently.
- In diffuse scleroderma, skin thickening occurs more rapidly and involves more skin areas than in limited disease. In addition, people with diffuse scleroderma have a higher risk of developing “sclerosis” or fibrous hardening of the internal organs.
- In limited scleroderma, skin thickening is less widespread, typically confined to the fingers, hands and face, and develops slowly over years.
Epidemiology
United States
Systemic sclerosis is a rare disease. Systemic sclerosis is diagnosed in approximately 67 male patients and 265 female patients per 100,000 people each year.
International
Systemic sclerosis is estimated to occur in 2.3-10 people per 1 million. Systemic sclerosis is rare in the resident population of Japan and China.
Risk factors of scleroderma
- Because of the known association of certain genes with scleroderma, it may be that combinations of exposures to environmental factors and possibly certain viruses may trigger the development of the disease in genetically susceptible people.
- The precise interplay of pathology leading to blood vessel damage, scar and collagen accumulation, and autoimmunity is unclear.
Causes
- 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 aren’t certain what prompts this abnormal collagen production, but the body’s immune system appears to play a role. In some genetically susceptible people, symptoms may be triggered by exposure to certain types of pesticides, epoxy resins or solvents.
Symptoms of scleroderma
Scleroderma’s signs and symptoms vary, depending on which parts of your body are involved:
- 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 types. 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 is an exaggerated response to cold temperatures or emotional distress, which can cause numbness, pain or color changes in the fingers or toes. Called Raynaud’s disease, this condition also occurs in people who don’t have scleroderma.
- Digestive system. In addition to acid reflux, which can damage the section of esophagus nearest the stomach, some people may also have problems absorbing nutrients if their intestinal muscles aren’t moving food properly 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.
Diagnosis and Tests
Because scleroderma can take so many forms and affect so many different areas of the body, it can be difficult to diagnose.
- He or she may remove a small tissue sample (biopsy) of the affected skin so that it can be examined in the laboratory for abnormalities
- Doctors may also suggest breathing tests (pulmonary function tests), a CT scan of lungs and an echocardiogram of heart
Treatment and Medication
No drug has been developed that can stop the underlying process of scleroderma- the overproduction of collagen. But a variety of medications can help control the symptoms or help prevent complications. To accomplish this, these drugs may:
- 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 stomach acid.Medications such as omeprazole (Prilosec) can relieve symptoms of acid reflux.
- 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.
- Relieve pain.If over-the-counter pain relievers don’t help enough, you can ask your doctor to prescribe stronger medications.
Surgery
Used as a last resort, surgical options for scleroderma complications may include:
- If finger ulcers caused by severe Raynaud’s disease have developed gangrene, amputation may be necessary.
- Lung transplants. People who have developed high blood pressure in the arteries to their lungs (pulmonary hypertension) may be candidates for lung transplants.
Therapy
Physical or occupational therapists can help you to:
- Manage pain
- Improve your strength and mobility
- Maintain independence with daily tasks
Prevention of scleroderma
There is no prevention method or diet to avoid or decrease the risk of scleroderma.