Diagnosis: CREST syndrome
Our patient had CREST syndrome, a variant of limited systemic scleroderma. CREST syndrome is characterized by Calcinosis cutis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasias.
Systemic scleroderma is a chronic auto-immune disease involving sclerotic, vascular, and inflammatory changes of the skin and internal organs. There are 19 new cases per million adults per year, with an estimated annual prevalence of 276 cases per million adults in the United States.1 Scleroderma occurs in women 4.6 times more often than in men; the mean age at diagnosis is 45 years.1 Although the pathogenesis of scleroderma remains unclear, interactions among leukocytes, endothelial cells, and fibroblasts are likely to be central in this disease.2
According to the 1980 American College of Rheumatology (ACR) guidelines,3 a diagnosis of systemic scleroderma can be made with either 1 major criterion or 2 minor criteria present. The major criterion is symmetric thickening, tightening, and induration of the skin proximal to the metatarsal-phalangeal or metacarpal-phalangeal joints. This may affect the whole extremity, trunk, neck, and face. The minor criteria include sclerodactyly, digital pitting scars or a loss of substance from the finger pads, and bibasilar pulmonary fibrosis.
Two forms of scleroderma. To improve sensitivity for milder forms of disease, the condition is often divided into diffuse systemic scleroderma (dSSc) or limited systemic scleroderma (lSSc) (TABLE 1), with CREST syndrome being a variant of the limited form.4 Patients with dSSc usually have a rapid diffuse involvement of the trunk, hands, feet, and face with early internal organ involvement. Patients with lSSc, however, usually have slow skin involvement limited to hands, feet, and face, and delayed systemic involvement, if any.