Hutchinson-Guilford progeria syndrome.

Progeria is a human disease model of accelerated ageing. The progeria syndrome is a rare genetic disorder, first reported in 1886 by Hutchinson and Guilford in England. The inheritance pattern, paternal age eVect, and lack of consanguinity argue that it is due to a sporadic dominant mutation. HutchinsonGuilford progeria syndrome (HGPS) is associated with several features of premature ageing—for example, growth retardation, characteristic facies, loss of hair, and subcutaneous fat, restricted joint mobility, prominent eyes, and severe premature atherosclerosis. The exact pathophysiology of this syndrome is not known. Recent findings in several laboratories indicate that progeria patients excrete an excessive amount of glycosaminoglycan, hyaluronic acid. 7 In 1886, Jonathan Hutchinson reported a case of a 3.5 year old boy who had the appearance of an old man. Later, Hastings Guilford reported a second case with similar features. The term, “progeria” was taken from the Greek word for old age, “geras”, 9 originally proposed by Guilford in 1904. The interesting clinical features consist of craniofacial disproportion, micrognathia, prominent scalp veins, scalp alopecia, prominent eyes, wrinkled skin, protruding ears, nail dystrophy, midfacial cyanosis, growth retardation, and a sculpted nose at birth. DeBusk observed that patients with progeria syndrome are typically considered normal infants. The characteristic facies, posture, stiVness of joints, and bone, teeth, and skin changes become apparent during the second year of life. The necropsies on patients with HGPS revealed prominent abnormalities in the skin, cardiovascular tissues, and bone. In 1972, DeBusk presented case reports of four patients and reviewed the world literature on HGPS. Although these patients develop premature atherosclerosis and die of cardiac or cerebral vascular disease between 7 and 27 years of age, many other features associated with pathological ageing are absent.