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AT-A-GLANCE

AT-A-GLANCE

  • Scleroderma (systemic sclerosis [SSc]) is a multisystemic autoimmune disease characterized by vasculopathy, inflammation, and fibrosis of the skin and many other organs.

  • Differential diagnosis of SSc includes severe forms of localized scleroderma, as well as many other scleroderma-like conditions.

  • Raynaud phenomenon, circulating autoantibodies, and skin sclerosis are almost always present and are important for the early diagnosis.

  • Patients with SSc are classified into 2 major subtypes depending on the extent of skin sclerosis (diffuse cutaneous systemic sclerosis and limited cutaneous systemic sclerosis).

  • Patients with an overlap syndrome, including mixed connective tissue disease, are characterized by additional clinical features of other rheumatic diseases.

  • Involvement of internal organs (digestive tract, lung, kidney, and heart) can lead to severe dysfunction and determines the prognosis.

  • The heterogeneity and clinical course of SSc and SSc overlap syndromes require the urgent need of interdisciplinary collaborations and regular followup visits.

  • Although the disease is still not curable, there have been substantial advances in developing new therapeutic approaches and treating organ-based complications based on a better understanding of the pathophysiology.

DEFINITIONS

Scleroderma (systemic sclerosis [SSc]) is a multisystem disease, characterized by autoimmunologic processes, vascular endothelial cell injury, inflammation, and an extensive activation of fibroblasts. There is a large individual variability in the extent of skin and organ involvement, as well as in disease progression and prognosis. Skin, esophagus, lung, heart, and kidneys are the most frequently affected organs.

EPIDEMIOLOGY

Women are more frequently affected by SSc, with a female-to-male ratio between 3:1 and 14:1.1-4 The age of disease onset ranges between 30 and 50 years.1 However, male patients have earlier onset than female patients. Blacks with SSc are frequently younger than whites.

SSc is a rare disease; however, incidence rates increased from 0.6 to 16 patients per million inhabitants and prevalence rates rose from 2 to 233 patients per million inhabitants per year,2-5 depending on methodologic differences in case definition and ascertainment as well as the investigated time period. It can be assumed that these numbers represent an underestimation as patients with mild disease remain often undiagnosed.

SSc has the highest case-specific mortality of any of the autoimmune rheumatic diseases, but it varies individually, depending on racial or ethnic differences, presence and severity of organ involvement, SSc subsets, age at diagnosis, and gender differences. Although not curable, there have been substantial advances in treatment options for organ-based complications of SSc.

CLINICAL FEATURES OF SYSTEMIC SCLEROSIS

SSc usually starts with a Raynaud phenomenon, which can precede the disease for many years. The clinical manifestations depend to a large extent on the subset and stage of disease. The clinical features of established SSc are diverse with severe fibrosis of the skin and all additional cutaneous manifestations. These include hardening of the skin, development of contractures, digital ulcerations and calcifications. They also ...

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