Scleroderma

Answer 1

Definition

Scleroderma is a widespread connective tissue disease that involves changes in the skin, blood vessels, muscles, and internal organs.

Alternative Names

CREST syndrome; Limited scleroderma; Progressive systemic sclerosis; Systemic sclerosis; Localized scleroderma; Morphea, linear

Causes, incidence, and risk factors

The cause of scleroderma is unknown. People with this condition have a buildup of a substance called collagen in the skin and other organs. This buildup leads to the symptoms of the disease.

The disease usually affects people 30 to 50 years old. Women get scleroderma more often than men do. Risk factors include work exposure to silica dust and polyvinyl chloride.

Diffuse scleroderma can overlap with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. In such cases, the disorder is referred to as mixed connective disease.

Symptoms

Localized scleroderma usually affects only the skin on the hands and face. Its course is very slow, and it rarely, if ever, spreads throughout the body (becomes systemic) or causes serious complications.

Systemic scleroderma is also called systemic sclerosis. This form of the disease may affect the organs of the body, large areas of the skin, or both. This form of scleroderma has two main types: limited and diffuse scleroderma.

Skin symptoms may include:

• Blanching, blueness, or redness of fingers and toes in response to heat and cold (Raynaud's phenomenon)
• Hair loss
• Skin hardness
• Skin that is abnormally dark or light
• Skin thickening, stiffness, and tightness of fingers, hands, and forearm
• Small white lumps beneath the skin, sometimes oozing a white substance that looks like toothpaste
• Sores (ulcerations) on fingertips or toes
• Tight and mask-like skin on the face

Bone and muscle symptoms may include:

• Joint pain
• Numbness and pain in the feet
• Pain, stiffness, and swelling of fingers and joints
• Wrist pain

Breathing problems may include:

• Dry cough
• Shortness of breath
• Wheezing

Digestive tract problems may include:

• Bloating after meals
• Constipation
• Diarrhea
• Difficulty swallowing
• Esophageal reflux or heartburn
• Problems controlling stools (fecal incontinence)

Signs and tests

Examination of the skin may show tightness, thickening, and hardening.

Blood tests may include:

• Antinuclear antibody
• Anticentromere antibody
• Anti-SCL-70 antibody
• ESR
• Rheumatoid factor

Other tests may include:

• Chest x-ray
• CT scan of the lungs
• Echocardiogram
• Urinalysis
• Pulmonary function studies
• Skin biopsy

Treatment

There is still no treatment for the disease process of scleroderma. However, certain drugs and treatments help combat the complications.

Drugs used to treat scleroderma include:

• Corticosteroids
• Immune suppressing medications (methotrexate, Cytoxan)
• Nonsteroidal anti-inflammatory drugs (NSAIDs)

Other treatments for specific symptoms may include:

• Drugs for heartburn or swallowing problems
• Blood pressure medications (particularly ACE inhibitors) for high blood pressure or kidney problems
• Light treatments for skin thickening
• Medicines to improve breathing (See: Pulmonary hypertension)
• Medications to treat Raynaud's phenomenon

Treatment usually includes a combination of physical therapy and skin and joint protection techniques (for example, avoiding cold in the case of Raynaud's phenomenon).

Support Groups

See: Scleroderma - resources

Expectations (prognosis)

In most patients, the disease slowly gets worse. People who only have skin symptoms have a better outlook. Death may occur from gastrointestinal, heart, kidney, or lung complications.

One type of scleroderma, called limited scleroderma, involves only problems of the skin of the hands and face. It gets worse very slowly and usually does not affect other parts of the body.

Systemic scleroderma can involve many organs in the body. In some people, it will progress slowly and not involve any organs in the body. In other people, organs such as the lungs, kidneys, intestines, gallbladder, and heart become involved.

For some people, symptoms and problems develop quickly over the first few years, and continue to get worse. Others get worse much more slowly. Lung problems are the most common cause of death in patients with scleroderma.

Complications

• Heart failure
• Kidney failure
• Malabsorption
• Pulmonary fibrosis (the most common cause of death in people with scleroderma)
• Pulmonary hypertension

Calling your health care provider

Call for an appointment with your health care provider if:

• You have symptoms of scleroderma
• You have scleroderma and symptoms become worse or new symptoms develop

Prevention

There is no known prevention. Minimize exposure to silica dust and polyvinyl chloride.

References

Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007.

Varga J, Denton CP. Systemic sclerosis and the scleroderma-spectrum disorders. In: Firestein GS, Budd RC, Harris ED Jr., et al., eds. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 77.

Clouse RE, Diamant NE. Esophageal motor and sensory function and motor disorders of the esophagus. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2006:chap 41.

Answer 2

Definition

Scleroderma is a connective tissue disease that involves changes in the skin, blood vessels, muscles, and internal organs. It is a type of autoimmune disorder, a condition that occurs when the immune system mistakenly attacks and destroys healthy body tissue.

Alternative Names

CREST syndrome; Limited scleroderma; Progressive systemic sclerosis; Systemic sclerosis; Localized scleroderma; Mixed connective disease; Morphea - linear

Causes, incidence, and risk factors

The cause of scleroderma is unknown. People with this condition have a buildup of a substance called collagen in the skin and other organs. This buildup leads to the symptoms of the disease.

The disease usually affects people 30 to 50 years old. Women get scleroderma more often than men do. Some people with scleroderma have a history of being around silica dust and polyvinyl chloride, but most do not.

Widespread scleroderma can occur with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. In such cases, the disorder is referred to as mixed connective disease.

Symptoms

Some types of scleroderma affect only the skin, while others affect the whole body.

• Localized scleroderma usually affects only the skin on the hands and face. It develops slowly, and rarely, if ever, spreads throughout the body or causes serious complications.
• Systemic scleroderma, or sclerosis, may affect large areas of skin and organs such as the heart, lungs, or kidneys. There are two main types of systemic scleroderma: Limited disease (CREST syndrome) and diffuse disease.

Skin symptoms of scleroderma may include:

• Fingers or toes that turn blue or white in response to hot and cold temperatures (See: Raynaud's phenomenon)
• Hair loss
• Skin hardness
• Skin that is abnormally dark or light
• Skin thickening, stiffness, and tightness of fingers, hands, and forearm
• Small white lumps beneath the skin, sometimes oozing a white substance that looks like toothpaste
• Sores (ulcers) on the fingertips or toes
• Tight and mask-like skin on the face

Bone and muscle symptoms may include:

• Joint pain
• Numbness and pain in the feet
• Pain, stiffness, and swelling of fingers and joints
• Wrist pain

Breathing problems may result from scarring in the lungs and can include:

• Dry cough
• Shortness of breath
• Wheezing

Digestive tract problems may include:

• Bloating after meals
• Constipation
• Diarrhea
• Difficulty swallowing
• Esophageal reflux or heartburn
• Problems controlling stools (fecal incontinence)

Signs and tests

The health care provider will perform a physical exam. The exam may show hard, tight, thick skin.

Your blood pressure will be checked. Scleroderma can cause severe inflammation of small blood vessels, such as those in the kidneys. Problems with your kidneys can lead to high blood pressure.

Blood tests may include:

• Antinuclear antibody (ANA) panel
• Antibody testing
• ESR (sed rate)
• Rheumatoid factor

Other tests may include:

• Chest x-ray
• CT scan of the lungs
• Echocardiogram
• Urinalysis
• Tests to see how well your lungs and gastrointestinal (GI) tract are working
• Skin biopsy

Treatment

There is no specific treatment for scleroderma.

Your doctor will prescribe medicines and other treatments to control your symptoms and prevent complications.

Medicines used to treat scleroderma include:

• Power anti-inflammatory medicines called corticosteroids
• Immune-suppressing medications such as methotrexate and Cytoxan
• Nonsteroidal anti-inflammatory drugs (NSAIDs)

Other treatments for specific symptoms may include:

• Medicines for heartburn or swallowing problems
• Blood pressure medications (particularly ACE inhibitors) for high blood pressure or kidney problems
• Light therapy to relieve skin thickening
• Medicines to improve breathing
• Medications to treat Raynaud's phenomenon

Treatment usually also involves physical therapy.

Support Groups

See: Scleroderma - resources

Expectations (prognosis)

Some people with scleroderma have symptoms that develop quickly over the first few years and continue to get worse. However, in most patients, the disease slowly gets worse.

People who only have skin symptoms have a better outlook. Widespread (systemic) scleroderma can damage the heart, kidney, lungs, or GI tract, which may cause death.

Lung problems are the most common cause of death in patients with scleroderma.

Complications

The most common cause of death in people with scleroderma is scarring of the lungs, called pulmonary fibrosis.

Other complications of scleroderma include:

• Cancer
• Heart failure
• High blood pressure in the lungs (pulmonary hypertension)
• Kidney failure
• Problems absorbing nutrients from food (malabsorption)

Calling your health care provider

Call for an appointment with your health care provider if:

• You have symptoms of scleroderma
• You have scleroderma and symptoms become worse or new symptoms develop

Prevention

There is no known prevention. Reducing your exposure to silica dust and polyvinyl chloride may lower your risk for this disease.

References

Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007.

Varga J, Denton CP. Systemic sclerosis and the scleroderma-spectrum disorders. In: Firestein GS, Budd RC, Harris ED Jr., et al., eds. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 77.

Clouse RE, Diamant NE. Esophageal motor and sensory function and motor disorders of the esophagus. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2006:chap 41.

Reviewed By

Review Date: 02/02/2012

Ariel D. Teitel, MD, MBA, Clinical Associate Professor of Medicine, NYU Langone Medical Center. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.