SYSTEMIC SCLEROSIS (SCLERODERMA)

This is a generalized disorder of connective tissue characterized by fibrosis and degenerative changes in the skin, blood vessels, and visceral organs.

Skin becomes tight and thick.

ETIOLOGY AND INCIDENCE

Etiology is unknown, maybe immunological mediated.

• Female to male ratio 4: 1.

• Peak age of onset: 30-50 years.

TYPES OF SCLERODERMA

Scleroderma is classified according to the degree and extent of skin thickening.

Systemic scleroderma

• Diffuse cutaneous scleroderma

• Limited cutaneous scleroderma (previously called CREST syndrome)

Localized scleroderma

• Linear scleroderma

– In combination with another connective tissue disease. such as  Mixed connective tissue disease (MCTD).

SYSTEMIC SCLERODERMA

Diffuse cutaneous scleroderma (40%)

It is characterized by the rapid development of symmetric skin thickening or tightening of proximal and distal extremity, face, and truck.

These patients are at greater risk for developing kidney and other visceral involvement early in the the course of the disease.

Limited cutaneous scleroderma (60%)

It is characterized by symmetric skin thickening limited to distal extremities and the face.

Formerly it was called CREST syndrome the abbreviation of Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia.

The prognosis in limited scleroderma is better than diffuse variety because of the much lower frequency of
internal organ involvement, however after a long time patient may develop pulmonary arterial

LOCALIZED SCLERODERMA

Localized scleroderma is limited to skin, subcutaneous tissue, and muscle.

There is no systemic involvement.

It affects primarily children.

Involvement of various organs in systemic sclerosis

Skin 90%

Vascular system 80%

Raynaud’s phenomenon 80%

Oesophagus 45%

Lungs 40%

Heart 35%

Kidneys 25%

Joints 20%

Muscle 10%

CLINICAL FEATURES

Raynaud’s phenomenon

Severe Raynaud’s phenomenon is usually the presenting complaint and may precede other features by months or years.

It presents with three colour changes, initially pallor, then blues due to peripheral cyanosis, and then red due to reactive hyperemia.

There is also a tingling sensation.

Skin changes

• Initially there is often non-pitting edema and induration associated with sausage swelling and restriction of movement of the fingers.

• Later skin becomes shiny with atrophy and ulceration of the fingertips.

• The skin of the face, limbs & trunk is also affected.

• In advanced cases: the face may become taut and “difficulty in opening the mouth’’.

Tightening of skin over bony prominences also develops.

Musculoskeletal

• Arthralgia

• Mild non-erosive inflammatory arthritis

• Muscle weakness and wasting result from both disuse atrophy and low-grade myositis.

Gastrointestinal

Reflux oesophagitis associated with a sliding hiatus hernia (common) presenting with heartburn or dysphagia

Lungs

Lower-lobe fibrosis leads to cyst formation and honeycombing in advanced cases.

Heart

• Diffuse myocardial fibrosis with arrhythmias

• Pericarditis, cardiomyopathy, heart block, and aortic valve lesion may occur.

Kidneys

Renal failure & malignant hypertension.

INVESTIGATIONS

Autoantibodies

• Antinuclear factor (ANF) is positive in 50% of cases

• Anti centromere antibody (ACA) is most commonly seen in limited scleroderma.

• Antibodies to topoisomerase I (Scl 70) called anti-Scl 70 are specific for diffuse scleroderma.

• ACA and anti- Scl 70 are only detected in the serum of less than 50% of patients with scleroderma.

Radiography

• X-ray chest: To look for established lung disease and heart size.

• X-ray hands: to look at deposits of calcium around fingers and erosions of distal phalanges.

• Barium swallow: for impaired esophageal motility and reflux esophagitis.

• High-resolution CT scan: to look at fibrotic (interstitial) lung disease.

Blood count: normocytic normochromic anemia.

Urea and electrolytes: for renal function.

Urinalysis for proteinuria

MANAGEMENT

• No treatment only symptomatic management.

• Monitoring for detection of complications is required with measurement of blood pressure, blood counts, urinalysis, and renal and pulmonary function tests regularly.

• Corticosteroids may produce some symptomatic relief in early stages where inflammatory edema or associated pericarditis, myositis, and/or arthritis are predominant features.

• Nifedipine and prostacyclin infusion may be helpful in severe Raynaud’s phenomenon.

• ACE inhibitors are the drug of choice in patients with renal crises and accelerated hypertension.