Scleroderma

Scleroderma is chronic and is seen in two forms: systemic or localized. Systemic scleroderma can be further categorized as either diffuse scleroderma or CREST syndrome.

Systemic scleroderma
Diffuse scleroderma is seen in 10% of systemic scleroderma, often progressing quickly, and is potentially fatal. It can affect large areas of skin, causing thickening and hardening of the skin (sclerosis), abnormal changes with the arteries, joint problems, and dysfunction of major organs, such as the intestinal tract, heart, lungs, and kidneys.

CREST syndrome is sometimes referred to as limited cutaneous scleroderma and typically affects specific areas of the body such as the skin of the fingers, hands, lower arms and legs, elbow joints, and face. It progresses gradually. CREST syndrome, seen in 90% of cases of systemic scleroderma, is defined as follows:

• Calcinosis: Small calcium deposits that develop under the skin, primarily on the fingers, knees and elbows. They can become infected and can cause painful, open sores when they break through the skin.
• Raynaud phenomenon: Blood vessels in the hands and feet contract in response to cold or stress with this condition. When this happens, blood flow decreases and the affected fingers and toes turn white, then blue. When blood flow returns to normal, they turn red. The recurrent or prolonged interruption in blood flow can damage tissues, leading to sores and, in some severe cases, to gangrene and the need for amputation. Mild to moderate Raynaud phenomenon is relatively common, and only a small percentage of those who have it also have scleroderma. On the other hand, up to 90% of those with limited cutaneous scleroderma will have Raynaud phenomenon.
• Esophageal dysfunction: Many of those with scleroderma have difficulty swallowing due to muscle dysfunction in their esophagus and may have acid reflux and chronic heartburn.
• Sclerodactyly: This refers to the development of tight, thick skin causing deformity of the fingers that are in a fixed, semiflexed position. There may also be loss of tissue on the finger pads (digital pitting) and shrinkage giving them a sausage-like appearance with fingernails that may curve about the fingertip. The skin may be shiny and discolored.
• Telangiectasia: Associated with tiny red spots on the face and hands caused by the swelling of small blood vessels.

In more severe cases of systemic scleroderma, organ involvement may include:

• Lungs: Fibrosis can stiffen lung tissue, making it harder to breathe and leading to low oxygen levels, causing fatigue and shortness of breath, and to pulmonary hypertension (high blood pressure in the lungs), which can cause congestive heart failure. Lung dysfunction is the leading cause of death in systemic scleroderma.
• Kidney: Scleroderma can cause acute renal crisis that can be life-threatening. It can also cause hypertension and chronic renal dysfunction.
• Heart: Less common, and more likely to occur after several years, heart involvement can lead to heart palpitations and congestive heart failure.

Complications associated with systemic scleroderma that may also be associated with other disorders and present with overlapping clinical features include:

• Dental problems: Scleroderma of the face may make the mouth opening narrower, making teeth cleaning and dental care more difficult.
• Mask-like face: Tightening of the skin may cause an expressionless, mask-like face.
• Carpal tunnel syndrome
• Erectile dysfunction, sexual dysfunction in women
• Hypothyroidism
• Hearing loss
• Depression

Localized scleroderma
Localized scleroderma, also known as morphea, is characterized by the deposition of excessive collagen in the skin, causing one or many patches or lines of thickened, hardened skin. The skin may be reddened or white with purplish borders. In some cases, large areas of the skin may have patterns of hypo- and hyper-pigmentation. Morphea lacks some of the characteristics seen in the systemic form, such as sclerodactyly, Raynaud phenomenon, fingernail changes, telangiectasia, and organ involvement.

The signs and symptoms that a person with scleroderma experiences may range from mild to debilitating and, in some cases, may be life-threatening. They depend upon the type and severity of the scleroderma and the organs involved and will vary both from person to person and over time. Many of the symptoms may also be seen with other disorders and some are nonspecific. These include:

• Thickening and hardening of the skin
• Raynaud phenomenon
• Joint pain, joint contractures (rigidity)
• Swelling of hands and feet
• Gastroesophogeal reflux and difficulty swallowing
• Fatigue, muscle weakness
• Dry mouth and mucus membranes
• Loss of appetite
• Weight loss
• Constipation, diarrhea, and malnutrition

The goals with testing for scleroderma include diagnosing the condition, distinguishing between different types, evaluating its severity and the degree of organ involvement, detecting complications, and monitoring the condition over time. Diagnosis is largely based upon clinical signs, with specific laboratory testing ordered to help confirm or rule out scleroderma and more routine or general testing used to help evaluate the person's general health status. When the symptoms and test results are characteristic, diagnosing the condition may be relatively straightforward. In many cases, however, symptoms emerge slowly and may initially be mistaken for other conditions.

Laboratory tests
There is no one laboratory test to diagnose scleroderma. A battery of tests is performed to detect the presence or absence of autoantibodies that are generally associated with the diagnosis of scleroderma. They include:

• Antinuclear antibodies (ANA) – positive with a variety of connective tissue and autoimmune disorders; present in about 95% of those with scleroderma, typically with a speckled, centromere, or – more rarely – nucleolar pattern test result.
• Scl-70 antibody (Scleroderma antibody, Anti-topoisomerase I antibody) – positive and very specific in 20-60% of adults with scleroderma; associated with increased risk of pulmonary fibrosis.
• Centromere antibody (ACA)/centromere pattern – present in 60-80% of those with limited cutaneous scleroderma and strongly associated with CREST and pulmonary hypertension.
• Other, less frequently ordered tests for autoantibodies include anti-fibrillarin (U3RNP), anti-PM/Scl, anti-RNA polymerases I/III, anti-Nor-90, anti-PM-Scl, anti-B23, anti-U1-RNP, AHAs (anti-histone), and anti-Th/To. These tests are not routine and are often referred to a reference laboratory.

Sometimes, a biopsy may be performed to evaluate fibrosis in affected tissue.

General and routine testing that may be ordered to help monitor a person's health status may include:

• Complete blood count (CBC) – to evaluate red and white blood cells
• Comprehensive metabolic panel (CMP) – to evaluate organ function and chemical and electrolyte balances
• Urinalysis
• Thyroid function tests

Non-laboratory tests

• Lung function tests may be performed when lung involvement is suspected.
• CT (computed tomography) scans may be performed to evaluate lung damage.
• X-rays may be done to detect calcium deposits and evaluate lungs.
• Cardiac testing and monitoring may be performed when heart involvement is suspected.

There is no cure for scleroderma. In many cases, symptoms stabilize and begin to ease after several years. Skin may soften but remain discolored and may become fragile. Tissue and organ damage that has accumulated is often permanent.

Treatment of scleroderma is focused on managing symptoms, minimizing damage to organs and tissues, and maintaining mobility in affected joints. Treatments may include the following.

For Raynaud phenomenon: keeping hands and feet warm and avoiding temperature extremes, avoiding smoking and, in some cases, medications to help improve blood flow and reduce high blood pressure.

For esophageal dysfunction and gastrointestinal reflux: eating small meals and avoiding spicy foods as well as medications such as proton pump inhibitors, antacids, or H2-blockers.

Other treatments may include non-steroidal anti-inflammatory drugs (NSAIDs) and other pain relievers as well as medications to reduce inflammation, corticosteroids and other immune suppressants, medications for hypertension, and topical skin treatments for open sores and itching. Physical and occupational therapy may be indicated to maintain muscle strength and range of motion, and dental treatments may help to improve flexibility in the jaw muscles and maintain oral health. Sometimes, surgery is necessary to address tissue damage, joint contractures, calcium deposits, or other complications.

For more information on treatments available for those with scleroderma, see the Scleroderma Research Foundation webpage: Current Treatments.