Too old, too soon: Hutchinson–Gilford progeria syndrome

Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease that is characterized by precocious aging in infants and always leads to early death from heart attacks or strokes at a mean age of around 13–14 years. The premature aging is manifest through cutaneous changes resembling normal aged skin, alopecia (hair loss), lipodystrophy, skeletal changes (coxa valga and low bone mineral density, although this may not be due to osteoporosis as in normal aging, but rather a failure to properly develop bone throughout infancy) and intense atherosclerosis. Other changes commonly associated with aging are absent, such as cataracts and diabetes mellitus, and there are no reported problems with cognition or CNS neurology1. Thus HGPS belongs to the small group of genetic disorders called the segmental progeroid syndromes (Figure 1).