Signs and Features of Scleroderma

Systemic Sclerosis: Diverse Characteristics, Treatable Complications

Nov 1, 2008 Stephen Allen Christensen

Scleroderma is a relatively uncommon, but potentially devastating, autoimmune disease. No treatment is currently available, but its complications can be addressed.

Scleroderma (more properly known as systemic sclerosis) is an autoimmune disorder of unknown cause. It is characterized by inflammatory damage to small blood vessels and excessive deposition of collagen in the skin and soft tissues.

Scleroderma (thickening and stiffening of the skin) and Raynaud phenomenon (transient color changes—from white to blue to red—in the fingers and toes in response to cold or emotional stress) are hallmarks of the disease.

At least three types, or clinical subsets, of scleroderma exist; these are determined on the basis of the patterns of skin and internal organ involvement, the types of auto-antibodies produced, and survival rates. (Steen VD. Autoantibodies in systemic sclerosis. Semin Arthritis Rheum. 2005;35(1):35-42)

Lung damage leading to fibrosis (scarring) and pulmonary arterial hypertension (increased pressure in the arteries of the lungs) are the leading causes of death in scleroderma.

Clinical Subsets of Scleroderma and Their Characteristics

1. Limited cutaneous (60% of scleroderma patients): skin thickening is limited to areas beyond the elbows and knees (the face may also be affected). Pulmonary arterial hypertension may be present. Gastroesophageal reflux is common. CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia) is a variant of the limited cutaneous subset.
2. Diffuse cutaneous (35% of patients): All areas of skin may be affected. Interstitial lung disease (fibrosis) is common. Kidney involvement may lead to renal crisis (sudden-onset of severe hypertension and kidney failure). Tendon involvement can lead to decreased range of joint motion and friction rubs.
3. Systemic sclerosis sine scleroderma (5% of patients): Involvement of internal organs without skin thickening.

(Adapted from Hinchcliff M and Varga J. Systemic sclerosis/scleroderma: a treatable multisystem disease. Am Fam Physician. 2008;78(8):961-968)

Complications of Scleroderma

• Pulmonary: Lung involvement (fibrosis or pulmonary arterial hypertension) is common in scleroderma and is the primary cause of death.
• Skin: Calcium deposits on digits and over extensor tendons (calcinosis cutis); changes in pigmentation; itching; telangiectasias (purplish, flat areas that blanch with pressure); tightening and thickening, decreased range of motion, stiffening of fingers (sclerodactyly); difficulty in opening mouth.
• Cardiovascular: Arrhythmias caused by abnormal conduction; congestive heart failure; pericardial effusion (fluid in the sac around the heart); Raynaud phenomenon; ulcers at the ends of digits due to occluded small vessels (occasionally causing auto-amputation); inflammatory damage to pulmonary arteries.
• Gastrointestinal: Decreased intestinal motility; gastroesophageal reflux; strictures; difficulty swallowing; gastrointestinal bleeding and anemia; intestinal bacterial overgrowth; malabsorption and malnutrition.
• Musculoskeletal: flexion contractures (inability to completely extend joints, particularly the hands); weakness secondary to muscle atrophy; diffusely swollen hands; inability to perform fine motor tasks due to stiffened fingers; tendon friction rubs in fingers, wrists, knees or ankles.
• Renal: Progressive kidney involvement or acute renal crisis, leading to severe hypertension and kidney failure.
• Genitourinary: Impotence in males; painful intercourse in females.

Scleroderma is a chronic autoimmune disease that affects up to 250 of 1 million persons. The production of abnormal antibodies directed against the patient’s tissues causes widespread damage to blood vessels and soft tissues.

No disease-modifying treatment for scleroderma is currently available, but the complications of scleroderma are, to a great extent, treatable. Lifestyle modifications, physical therapy, and medications (including new agents to address pulmonary hypertension) have proven useful.

Frequent evaluation and a coordinated, multidisciplinary approach can improve patients’ quality of life and help to limit organ damage.

The copyright of the article Signs and Features of Scleroderma in General Medicine is owned by Stephen Allen Christensen. Permission to republish Signs and Features of Scleroderma in print or online must be granted by the author in writing.

Scleroderma of Hands

What do you think about this article?

---

NOTE: Because you are not a Suite101 member, your comment will be moderated before it is viewable.

post your comment

What is 6+7?