Scleroderma, a collagen vascular and autoimmune disease, got its name from the Greek words ‘skelero-’ (hard), and ‘-derma’ (skin).  It is a rare disease, but can affect people of any age or gender, most commonly women between the ages of thirty and fifty.

The fibrous substance that gives our skin its flexibility and forms connective tissue between our bones, tendons, and ligaments is called collagen.  However, with scleroderma, our body produces too much collagen when our immune system stimulates cells called fibroblasts.  Excess collagen is deposited in the skin, blood vessels, and other organs, resulting in hard tight skin.  Blood vessel walls can become narrow, slowing down and sometimes stopping blood flow, which can cause organ damage.

Even though symptoms may vary from one individual to another, scleroderma falls within two main categories: CREST syndrome and in severe cases, generalized involvement of many internal organs, such as the heart, gastrointestinal tract, lungs and kidneys.

CREST, an acronym that describes common symptoms of scleroderma, stands for the following:

  • Calcinosis: deposit of calcium in the skin or muscle.
  • Raynaud’s: extreme sensitivity to cold, burning, and bluing of the fingers.
  • Esophageal immobility: difficulty swallowing due to esophageal muscle problems
  • Sclerodactyly: deformity of the fingers in a half-bent position
  • Telangiectasia: widening of blood vessels, visible on the skin.

With CREST syndrome, thick, tight, and shiny skin may be limited to fingers and hands.  Hair usually ceases to grow on the affected areas and natural knuckle creases disappear.

Unfortunately, with more severe cases, hardening of the skin may spread rapidly to the arms, face, chest, and abdomen and even cause the skin to pleat and tighten around the mouth, making it difficult to chew.  Additional symptoms include joint pain and swelling, especially of the hands, difficulty swallowing, heartburn, irregular heartbeat, heart failure, hypertension, renal failure, and pulmonary artery hypertension.

Interstitial Pulmonary Disease (IID) and pulmonary hypertension are common to both scleroderma and CREST syndrome.  Both contribute significantly to mortality and morbidity of the disease.  IID is a buildup of scar tissue in the lungs that progresses to a point that a patient’s breathing is affected.  For this reason, an echocardiogram and pulmonary function test is ordered annually for patients diagnosed with scleroderma and CREST.  This scarring cannot be reversed, and treatment will not always be effective in stopping disease progression.  However, there are some treatments that may slow the process, such as cyclophosphamide (Cytoxan), and mycophenolate mofetile (CellCept).

Pulmonary hypertension is more commonly associated with CREST than scleroderma.  This type of hypertension occurs with elevated blood pressure in the arteries, which pump blood from the right side of the heart to the lungs.  When blood pressure within the pulmonary arteries is high, the heart has to pump harder to move blood into the lungs for oxygen.

Patients with mild pulmonary artery hypertension may have no symptoms, but those with severe cases may experience shortness of breath, especially with exercise.  Fortunately, in the past few years, FDA has approved several new drugs which can improve symptoms and may slow down the progression of pulmonary hypertension.  Early diagnosis, by complete pulmonary function test, echocardiogram and even cardiac catherization is extremely important, particularly patients with CREST syndrome.

Currently, there is no cure for scleroderma.  However, with an early diagnosis by your physician and monitoring for potential organ dysfunction, scleroderma can be managed, symptoms can be relieved, and damage can be limited.

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