Progressive Scleroderma - Clinical Tree

Etiology

Progressive scleroderma (also known as progressive systemic sclerosis [PSS] ) is one of the collagen vascular diseases, which makes it one of the systemic autoimmune disorders.

Collagen vascular diseases include the following:

PSS (progressive scleroderma)
Systemic lupus erythematosus
Polymyositis and dermatomyositis
Sjögren syndrome
Jo-1 syndrome
Mixed connective tissue disease (Sharp's syndrome)
Undifferentiated inflammatory systemic connective tissue disease
Relapsing polychondritis

These diseases have in common a fibrinoid degeneration of the connective tissues. Typical features are clinical overlap phenomena and non–organ-specific autoantibodies.

Prevalence and Epidemiology

Scleroderma is a rare disease. Over the past three decades, there has been an apparent increase in the incidence of systemic sclerosis to approximately 20 per million. The peak incidence is between 30 and 50 years of age. About 90% of patients are female.

Clinical Presentation

Clinical features include an insidious onset with Raynaud phenomenon, shrinking of skin, especially of the fingertips (Madonna fingers, Fig. 52-1 ) and the face (microstomia), and swallowing difficulties as a result of an immobilization of the esophagus or the small bowel. A clawlike deformity of the hands and “rat-bite” mutilations of the fingertips may occur. Soft-tissue calcifications are common. These deposits can ulcerate through the skin (see Fig. 52-1 ). The sclerosis leads to a restricted mobility of the affected skin, including the tongue ( Fig. 52-2 ). Other clinical features are poikiloderma, telangiectases, and alopecia; pulmonary arterial hypertension; pleurisy; and a pulmonary fibrosis. The myocardial abnormalities that are associated with systemic sclerosis usually are subclinical. Pericarditis may develop. Vasculitis in the kidneys can lead to infarctions, hypertension, and loss of function. A distinct group of mostly female patients suffers from typical features of organ involvement of systemic sclerosis but show only limited or no skin involvement. Diffuse involvement of the skin is more typical for male patients.

FIGURE 52–1, Raynaud phenomenon of the first through third distal phalanges of the left hand and the second and third distal phalanges of the right hand, with fingertip necrosis and ulcerating calcification of the third distal phalanx of the left hand .

FIGURE 52–2, Sclerosis of the frenulum of the tongue.

Pathophysiology

Pathology

Activation of T cells, monocytes, and macrophages leads to a production of cytokines, stimulating fibroblast proliferation and leading to increased collagen synthesis. Additionally, endothelial cell damage leads to intimal proliferation, which accounts for an occlusive vasculopathy. Ultimately, infarcts and necrosis occur in the skin, bone (typically osteolytic lesions), kidneys, and other organs.

Variants of classic PSS are as follows:

Localized scleroderma (morphea): localized cutaneous sclerosis without involvement of internal organs
CRESTA syndrome stands for calcinosis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia, and arthritis (This supposedly has a better prognosis.)
Secondary PSS as a result of exposure to chemicals or certain drugs, such as solvents, polyvinyl chloride, bleomycin, and many others

You're Reading a Preview

Become a Clinical Tree membership for Full access and enjoy Unlimited articles

Become membership

If you are a member. Log in here