Scleroderma

Alternative names
CREST syndrome; Progressive systemic sclerosis; Systemic sclerosis

Definition
Scleroderma is a diffuse connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs.

Causes, incidence, and risk factors

The cause of scleroderma is unknown. The disease may produce local or systemic symptoms. The course and severity of the disease varies widely in those affected.

Excess collagen deposits in the skin and other organs produce the symptoms. Damage to small blood vessels within the skin and affected organs also occurs. In the skin, ulceration, calcification, and changes in pigmentation may occur.

Systemic features may include fibrosis and degeneration of the heart, lungs, kidneys and gastrointestinal tract.

The disease usually affects people 30 to 50 years old. Women are affected more often than men. Risk factors are occupational exposure to silica dust and polyvinyl chloride.

Symptoms

     
  • blanching, blueness, or redness of fingers and toes in response to heat and cold (Raynaud’s phenomenon)  
  • pain, stiffness, and swelling of fingers and joints  
  • skin thickening and shiny hands and forearm  
  • skin is hard  
  • tight and mask-like facial skin  
  • ulcerations on fingertips or toes  
  • esophageal reflux or heartburn  
  • difficulty swallowing  
  • bloating after meals  
  • weight loss  
  • diarrhea  
  • constipation  
  • shortness of breath

Additional symptoms that may be associated with this disease:

     
  • wrist pain  
  • wheezing  
  • skin, abnormally dark or light  
  • joint pain  
  • hair loss  
  • eye burning, itching and discharge

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

     
  • The ESR is elevated.  
  • The rheumatoid factor can be elevated.  
  • An antinuclear antibody test is usually positive.  
  • Urinalysis can show protein and microscopic blood.  
  • A chest X-ray may show fibrosis.  
  • Pulmonary function studies often show restrictive lung disease.  
  • A skin biopsy may also be performed.

Treatment
See scleroderma treatment.

Support Groups
See scleroderma - support group.

Expectations (prognosis)
In the majority of those affected, the disease is progressive. In some, remission occurs with a slow progression. People who only have skin involvement have a better prognosis (probable outcome). Death may occur from gastrointestinal, cardiac, kidney, or pulmonary (lung) involvement.

Complications

     
  • cardiac failure  
  • renal failure  
  • pulmonary fibrosis  
  • malabsorption (inadequate absorption of nutrients from the intestinal tract)

Calling your health care provider
Call for an appointment with your health care provider if symptoms of this disorder are present, or if you have scleroderma and symptoms become worse, or if new symptoms develop.

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

Johns Hopkins patient information

Last revised: December 8, 2012
by Armen E. Martirosyan, M.D.

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