Scleroderma

Scleroderma (Systemic Sclerosis)

Scleroderma

Scleroderma (systemic sclerosis) is a rare chronic disorder characterized by diffuse fibrosis of the skin and internal organs. Symptoms usually appear in the third to fifth decades, and women are affected two to three times as frequently as men.

Two forms of scleroderma are generally recognized: lim­ited (80% of patients) and diffuse (20%). In limited sclero­derma, which is also known as the CREST syndrome (representing calcinosis cutis, Raynaud phenomenon, esopha­geal motility disorder, sclerodactyly, and telangiectasia), the hardening of the skin (scleroderma) is limited to the face and hands. In contrast, in diffuse scleroderma, the skin changes also involve the trunk and proximal extremities.

Tendon fric­tion rubs over the forearms and shins occur uniquely (but not universally) in diffuse scleroderma. In general, patients with limited scleroderma have better outcomes than those with diffuse disease, largely because kidney disease or interstitial lung disease rarely develops in patients with limited disease.

Cardiac disease is also more characteristic of diffuse sclero­derma. Patients with limited disease, however, are more sus­ceptible to digital ischemia, leading to finger loss, and to life-threatening pulmonary hypertension. Small and large bowel hypomotility, which may occur in either form of sclero­derma, can cause constipation alternating with diarrhea, malabsorption due to bacterial overgrowth, pseudoobstruc­tion, and severe bowel distention with rupture.

Signs and symptoms

Raynaud phenomenon is usually the initial manifestation and can precede other signs and symptoms by years in

cases of limited scleroderma. Polyarthralgia, weight loss, and malaise are common early features of diffuse sclero­derma but are infrequent in limited scleroderma.

Cutane­ous disease usually, but not always, develops before visceral involvement and can manifest initially as non-pitting sub­cutaneous edema associated with pruritus. With time the skin becomes thickened and hidebound, with loss of nor­mal folds. Telangiectasia, pigmentation, and depigmenta­tion are characteristic.

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Ulceration about the fingertips and subcutaneous calcification are seen.

Dysphagia and symp­toms of reflux due to esophageal dysfunction are common and result from abnormalities in motility and later from fibrosis. Fibrosis and atrophy of the gastrointestinal tract cause hypomotility.

Large-mouthed diverticuli occur in the jejunum, ileum, and colon. Diffuse pulmonary fibrosis and pulmonary vascular disease are reflected in restrictive lung physiology and low diffusing capacities.

Cardiac abnor­malities include pericarditis, heart block, myocardial fibrosis, and right heart failure secondary to pulmonary hypertension. Scleroderma renal crisis, resulting from intimal proliferation of smaller renal arteries and usually associated with hypertension, is a marker for a poor out­come even though many cases can be treated effectively with angiotensin-converting enzyme inhibitors.

Diagnosis

Mild anemia is often present. In scleroderma renal crisis, the peripheral blood smear shows findings consistent with a microangiopathic hemolytic anemia (due to mechanical damage to red cells from diseased small vessels). Elevation of the ESR is unusual. Proteinuria appears in association with renal involvement. Antinuclear antibody tests are nearly always positive, frequently in high titers.

The scleroderma antibody (anti-SCL-70), directed against topoisomerase III, is found in one-third of patients with diffuse systemic sclerosis and in 20% of those with CREST syndrome. Although present in only a small number of patients with diffuse scleroderma, anti-SCL-70 antibodies may portend a poor prognosis, with a high likelihood of serious internal organ involvement (eg, interstitial lung disease).

Anticentromere antibodies are seen in 50% of those with CREST syndrome and in 1% of individuals with diffuse scleroderma. Anticentromere antibodies are highly specific for limited scleroderma, but they also occur occasionally in overlap syndromes. Anti- RNA polymerase III antibodies develop in 10–20% of scleroderma patients overall and correlate with the devel­opment of diffuse skin disease and renal hypertensive crisis.

Early in its course, scleroderma can cause diagnostic con­fusion with other causes of Raynaud phenomenon, partic­ularly SLE, mixed connective tissue disease, and the inflammatory myopathies.

Eosinophilic fasciitis is a rare disorder presenting with skin hardening that resemble dif­fuse scleroderma. The inflammatory abnormalities, how­ever, are limited to the fascia rather than the dermis and epidermis. Moreover, patients with eosinophilic fasciitis are distinguished from those with scleroderma by the pres­ence of peripheral blood eosinophilia, the absence of Rayn­aud phenomenon, the good response to prednisone, and an association (in some cases) with paraproteinemias.

Diffuse skin thickening and visceral involvement are features of scleromyxedema; the presence of a paraprotein, the absence of Raynaud phenomenon, and distinct skin histology point to scleromyxedema.

Diabetic cheiropathy typically devel­ops in longstanding, poorly controlled diabetes mellitus and can mimic sclerodactyly.

Nephrogenic fibrosing der­mopathy produces thickening and hardening of the skin of the trunk and extremities in patients with chronic kidney disease; exposure to gadolinium may play a pathogenic role.

Morphea and linear scleroderma cause scleroderma­tous changes limited to circumscribed areas of the skin and usually have excellent outcomes.

Complications

Scleroderma complications range from mild to severe and can affect the:

  • Fingertips. In systemic sclerosis, Raynaud’s phenomenon can become so severe that the restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores. In some cases, the tissue on the fingertips may die.
  • Lungs. Scarring of lung tissue can impact your ability to breathe and tolerance for exercise. You may also develop high blood pressure in the arteries to your lungs.
  • Kidneys. A serious kidney complication (scleroderma renal crisis) involves a sudden increase in blood pressure and rapid kidney failure. Prompt treatment of this condition is important to preserve kidney function.
  • Heart. Scarring of heart tissue increases your risk of abnormal heartbeats and congestive heart failure. Scleroderma can also cause inflammation of the membranous sac surrounding your heart.
  • Teeth. Severe tightening of facial skin can cause your mouth to become smaller and narrower, which may make it hard to brush your teeth or to even have them professionally cleaned. People who have scleroderma often don’t produce normal amounts of saliva, so the risk of dental decay increases even more.
  • Digestive system. Digestive problems associated with scleroderma can lead to heartburn and difficulty swallowing. It can also cause bouts of cramps, bloating, constipation or diarrhea. Some people who have scleroderma may also have problems absorbing nutrients due to overgrowth of bacteria in the intestine.
  • Joints. The skin over joints can become so tight that it restricts joint flexibility and movement, particularly in the hands.

Treatment

There is no treatment that can cure or stop the overproduction of collagen that is characteristic of scleroderma. But a variety of treatments can help control symptoms and prevent complications.

Medications

Because scleroderma can affect so many different parts of the body, the choice of medication will vary, depending on the symptoms. Examples include drugs that:

  • Dilate blood vessels. Blood pressure medications that dilate blood vessels may help treat Raynaud’s phenomenon.
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  • Suppress the immune system. Drugs that suppress the immune system, such as those taken after organ transplants, may help reduce progression of some scleroderma symptoms, such as the thickening of the skin or worsening of lung damage.
  • Reduce digestive symptoms. Pills to reduce stomach acid can help relieve heartburn. Antibiotics and medications that help move food through the intestines may help reduce bloating, diarrhea and constipation.
  • Prevent infections. 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 by scleroderma.
  • Relieve pain. If over-the-counter pain relievers don’t help enough, your doctor might suggest prescription medications to control pain.

Therapies

Physical or occupational therapists can help you improve your strength and mobility and maintain independence with daily tasks. Hand therapy may help prevent hand contractures.

Surgical and other procedures

Stem cell transplants might be an option for people who have severe symptoms that haven’t responded to more-common treatments. If the lungs or kidneys have been severely damaged, organ transplants might be considered.

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