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  • Print publication year: 2004
  • Online publication date: July 2009

18 - Hutchinson–Gilford progeria syndrome

Summary

Introduction

Hutchinson–Gilford syndrome or progeria (derived from pro, before, and geras, old age) is characterized by premature ageing (Fig. 18.1) and the early onset of age-related complications such as joint restriction and cerebral and myocardial infarction. Progeria occurs in about one in eight million people (DeBusk, 1972), but the true incidence may be somewhat higher (Sarkar & Shinton, 2001).

Clinical manifestations

Patients with progeria typically begin to develop clinical signs by age 1 or 2 years, but later onset has been described (Ogihara et al., 1986; Sarkar & Shinton, 2001). Signs of progeria progress over time. Alopecia, for example, may not be present initially, but is almost universal by adolescence. The most common early features are short stature, decreased subcutaneous fat, joint restriction and alopecia (Fig. 18.1) (Gilkes et al., 1974; DeBusk, 1972). Skeletal changes include thinning of the bones and coxa valga; some children have repeated poorly healing fractures (Djupesland, 1962; Gabr et al., 1960). The characteristic aged physical appearance of progeria results from a combination of postural changes, decreased subcutaneous fat, alopecia and skin laxity. Survival into middle age has been described, but death during the second decade is more typical (Dyck et al., 1987).

Almost all children with progeria eventually develop premature vascular disease, leading to stroke (Fig. 18.2) or coronary artery disease (Matsuo et al., 1994; Dyck et al., 1987).

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