The prevalence of scleroderma is estimated to be 300,000 in the USA; 4000 to 5000 new cases are diagnosed each year. The disease is four times more common in women than men and the average age of onset is between the third and fifth decade of life (Silman 1997). Scleroderma affects all racial groups but the onset of scleroderma is more likely to occur at a younger age in African American women who are more likely to develop diffuse disease, and have a poorer age-adjusted survival rate (Greidinger et al 1998, Laing et al 1997). In the UK, the prevalence has been reported to range from 3.08 per 100,000 (West Midlands area) (Silman et al 1988) to 8.8/100,000 in Northeast England (Allock et al 2004) to 14.6 per 100,000 in south and west London (Silman et al 1990).

The cause of scleroderma is not known. Some precipitating event causes cells to start making collagen as if some injury has occurred. However, once the production has begun, the cells do not turn off. The excess collagen interferes with functioning of the skin, lungs, heart, muscles and gastrointestinal tract as well as other organs. Factors that are related to higher rates of scleroderma include ethnicity, geography, gender, and age.

Many of the symptoms of scleroderma are similar to other diseases and there are no definitive blood tests that confirm a diagnosis of scleroderma. However, serum anti-topoisomerase (SCL-70) is present in 30% of people with diffuse scleroderma and anticentromere antibody (ACA) is present in 70–80% of people with limited cutaneous scleroderma (Medsger 2004). Other special tests that may be indicated for those with scleroderma are pulmonary function tests, echocardiograms and visualization of nailfold capillaries by microscope.

The two main forms of scleroderma are localized scleroderma and systemic scleroderma (Box 21.1). In localized scleroderma, the skins changes are confined to a specific area of the skin and the internal organ systems are not involved (Medsger 2004). In systemic scleroderma, the internal organ systems are involved and the skin involvement is less localized. There are two subsets of systemic scleroderma: diffuse scleroderma and limited cutaneous scleroderma.

BOX 21.1 Clinical subsets of scleroderma

Localized scleroderma

Morphea (patches of thickened skin)

Linear (thickened skin in a linear pattern attached to underlying muscle and bone)

Scleroderma en coup de saber (meaning “cut of the saber”, linear scleroderma involving the head)

Systemic scleroderma

Diffuse scleroderma

Extensive thickening of the skin proximal to the elbows and knees

Early internal organ involvement

Limited cutaneous scleroderma

Skin thickening limited to the fingers, hands and distal forearms.

Later involvement of internal organs

Other early symptoms include Raynaud’s phenomenon, puffiness in the fingers and heartburn (Medsger 2004).

The CREST syndrome falls into the limited cutaneous subset

Calcinosis

Raynaud’s phenomenon

Esophageal dysfunction

Sclerodactyly

Telengiectasias

Common symptoms of scleroderma include Raynaud’s phenomenon (Fig. 21.1), skin thickening, and involvement of the musculoskeletal, pulmonary, gastrointestinal, cardiac and renal systems. Musculoskeletal involvement, such as non inflammatory arthralgias and myalgias, can be an early symptom in people with scleroderma (Blocka 2004). Skin tightening and fibrosis can lead to contractures in the hand (Entin & Wilkinson 1973). The most common contractures are a loss of flexion of the metacarpal phalangeal joints, loss of extension of the proximal interphalangeal joints and a loss of thumb abduction. Mandibular resorption is also a common symptom as well as thickening of the periodontal membrane. These oral changes may lead to microstomia (Fig. 21.2) and dental problems.

Figure 21.1 Raynaud’s phenomenon in a patient with scleroderma (Note: white discoloration and telangectasia).

With permission from Al-Alluf AW, Belch JF 2003 Ch. 136 Raynaud’s Phenomenon. In: Hochberg MC et al (eds) Rheumatology (3rd edn), Elsevier, London, Fig. 136.1 p1509.

Figure 21.2 Microstomia in sclerdoderma (Note the taut smooth skin and reduced oral aperture).

With permission from: Wigley FM, Hummers LK 2003 Ch. 133 Clinical features of systemic sclerosis. In: Hochberg MC et al (eds.) Rheumatology (3rd edn), Elsevier, London, Fig. 133.12 p1469.

Symptoms of lung involvement in scleroderma are shortness of breath and coughing. Some persons develop pulmonary fibrosis of the lungs, that in the later stages, may cause death (White 2004). Initial gastrointestinal symptoms include gastroesophegeal reflux disease (GERD) which consists of difficulty swallowing, nausea, vomiting and bloating after meals (Weinstein & Kadell 2004). Symptoms progress from the upper to the lower GI tract with symptoms of diarrhoea and/or constipation. Cardiac problems are more subtle and symptoms may not occur until later in the disease (Follansbee & Marroquin 2004). Later cardiac involvement may consist of arrythmias, heart failure and pericarditis. Many people with scleroderma also have kidney involvement. However, the most important clinical manifestation is an accelerated hypertension with resultant decrease or lack of urine output precipitating a scleroderma renal crisis (Steen 2004, Wollheim 2004).

The course of scleroderma is variable and prognosis dependent on the subtype of scleroderma and timing, site and degree of internal organ involvement (Medsger 2004). With early diagnosis and the introduction of new medications such as ACE inhibitors, some of the complications from scleroderma, such as renal crisis, have been decreased.

A clinical evaluation must consist of range of motion, hand function, pain, fatigue, and ability to perform daily activities (ADL), including basic ADL, work and leisure activities. In addition, the patient’s hand should be inspected for digital ulcers, calcium deposits, extent of skin thickness, and Raynaud’s phenomenon. Table 21.1 describes assessments that have been shown to be reliable and valid with persons with scleroderma.

Table 21.1 Assessments specific to scleroderma