Scleroderma is an autoimmune disease of the connective tissue. Autoimmune diseases are illnesses which occur when the body's tissues are attacked by its own immune system. Its a systemic disease characterized by skin induration and thickening accompanied by various degrees of tissue fibrosis and chronic inflammatory infiltration in numerous visceral organs.

 

Scleroderma has been categorized into two major groups, diffuse and limited

Systemic sclerosis

• The diffuse form of scleroderma (systemic sclerosis) involves symmetric thickening of skin of the extremities, face, and trunk (chest, back, abdomen, or flanks) which can rapidly progress to hardening after an early inflammatory phase
• Organ disease can occur early on and be serious
• Organs affected include the esophagus, bowels, and lungs with scarring (fibrosis), heart, and kidneys.
• High blood pressure can be a troublesome side effect

CREST Syndrome

CREST is a limited form of scleroderma tends to be confined to the skin of the fingers and face.

The skin changes and other features of disease tend to occur more slowly than in the diffuse form.

Clinical features are:

• Calcinosis
• Raynaud’s phenomenon
• Esophagus disease
• Sclerodactyly
• Telangiectasias

ACR criteria

The American College of Rheumatology (ACR) criteria for the classification of systemic sclerosis require one major criterion or two minor criteria, as follows:

Major criterion

Proximal scleroderma is characterized by symmetric thickening, tightening, and indurations of the skin of the fingers and the skin that is proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes may affect the entire extremity, face, neck, and trunk

Minor criteria

• Sclerodactyly is characterized by thickening, indurations, and tightening of the skin, limited to only the fingers
• Digital pitting scars or a loss of substance from the finger pad: As a result of ischemia, depressed areas of the fingertips or a loss of digital pad tissue occurs
• Bibasilar pulmonary fibrosis includes a bilateral reticular pattern of linear or linenodular densities most pronounced in basilar portions of the lungs on standard chest roentgenography.
• These densities may assume the appearance of diffuse mottling or a honeycomb lung and are not attributable to primary lung disease.

Clinical features of systemic sclerosis

Skin changes

• Extreme pruritus
• Skin indurations and tightness
• Hyper pigmentation or hypo pigmentation

Vascular system

• Raynaud’s syndrome- (70% of patients with systemic sclerosis initially present with this symptom; 95% eventually develop it during the course of their disease)
• Healed pitting ulcers in fingertips
• Healed pitting ulcers in fingertips
• Cutaneous and mucosal Telangiectasias

Gastrointestinal system

• GERD
• Dyspepsia, bloating, and early satiety
• Constipation alternating with diarrhea (may lead to malabsorption)

Respiratory system

• Progressive dyspnea
• Chest pain (precordial) due to pulmonary artery hypertension
• Restrictive lung disease

Musculoskeletal system

• Arthralgia
• Myalgia
• Carpal tunnel syndrome
• Muscle weakness
• Cardiovascular system
• Dyspnea due to pericardial effusion, congestive cardiac failure

Genitourinary system

• Dyspareunia (if introitus is affected)
• Erectile dysfunction

Ears, nose, and throat

• Sicca syndrom
• Poor dentition due to sicca syndrome
• Loosening of dentition due to alteration in the tooth suspensory ligament and thickening of the periodontal membrane
• Hoarseness due to acid reflux or vocal cord fibrosis

Endocrine system

• Hypothyroidism
• Renal system
• Hypertension
• Renal crisis
• Chronic renal insufficiency

Neurological

• Facial pain and hand paresthesias due to sensory peripheral entrapment neuropathy
• Headache and stroke during hypertensive renal crisis
• Fatigue
• Weight loss

Causes

The exact etiology of systemic sclerosis is unclear; however, the following pathogenic mechanisms are always present:

• Endothelial cell injury
• Fibroblast activation
• Cellular and humoral immunologic derangement
• Environmental factors (eg, triggers or accelerators) for the development of systemic sclerosis include the following:
• Silica exposure
• Solvent exposure (vinyl chloride, trichloroethylene, epoxy resins, benzene, carbon tetrachloride)
• Radiation exposure or radiotherapy
• Cytomegalovirus, human herpes virus 5, and parvovirus B19 have been proposed as viral accelerating factors, but evidence of their involvement is inconclusive.
• Drugs: Bleomycin and pentazocine may be involved in the development of systemic sclerosis.

Tests and diagnosis

• Antinuclear antibodies are present in about 95% of affected patients, usually with a speckled or centromere pattern.
• A nucleolar pattern, although less common, is more specific for systemic sclerosis.
• Topoisomerase I antibodies (also known as Scl-70) are present in approximately 30% of patients with diffuse disease (absent in limited disease) and are associated with pulmonary fibrosis
• Anticentromere antibodies are present in about 80-90% of patients with limited disease and are rare in patients with diffuse disease
• Fibrillarin antibodies and antibodies to U3 ribonucleoprotein (RNP) may be present
• X-ray, pulmonary function test and HRCT scan is required to evaluate pulmonary involvement
• Echocardiography test to evaluate the patient's pulmonary artery pressure and to assess septal fibrosis or pericardial effusions
• Esophagraphy this test to document esophageal dysmotility and an incompetent LES
• Bronchoscopy

Treatment

Medical treatment

• Skin thickening can be treated with D-penicillamine.
• Interferon-gamma is effective, but its use is limited because it activates inflammatory and endothelial cells.
• Pruritus can be treated with moisturizers, histamine 1 (H1) and histamine 2 (H2) blockers, tricyclic antidepressants, and trazodone.
• GI symptoms may be treated with antacids, H2 blockers, reflux and aspiration precautions, proton pump inhibitors, prokinetic agents, octreotide, smaller meals, and laxatives.
• Raynaud phenomenon can be treated with calcium channel blockers, prostaglandin E1, aspirin, and topical nitrates.
• Arthralgias can be treated with acetaminophen and nonsteroidal anti-inflammatory drugs (NSAIDs).

Surgical care

• Digital sympathectomy may be used in patients with severe Raynaud phenomenon who have an unrelenting acute attack and who are threatened by digital loss.
• Debridement or amputation may be required in severe ischemic or infected digital lesions. Hand surgery may be performed to correct severe flexion contractures.
• Removal of severely painful or draining of infected calcinotic deposits is occasionally required. 

Diet

Instruct the patient to avoid large does of vitamin C (>1000 mg/d) because it stimulates collagen formation and may enhance its deposition.

 

Activity

• Ensure that the patient maintains a core body temperature to try to minimize the Raynaud phenomenon.
• Assist the patient in avoiding contamination of any skin wound caused by ischemic lesions or calcinosis.
• Digital ulcers must be kept clean and dry.
• Instruct the patient to perform continuous physical and occupational therapy to maintain range of motion and to minimize or delay contractures.