Hutchinson-Guilford progeria syndrome
- aCity Hospital NHS Trust, Birmingham, UK, bBirmingham Heartlands Hospital, Birmingham, UK
- Dr P K Sarkar, Selly Oak Hospital, Raddlebarn Road, Birmingham B29 6JD, UK
- Received 19 June 2000
- Accepted 29 August 2000
Progeria is a human disease model of accelerated ageing.1-3 The progeria syndrome is a rare genetic disorder, first reported in 1886 by Hutchinson and Guilford in England.4 The inheritance pattern, paternal age effect, and lack of consanguinity argue that it is due to a sporadic dominant mutation. Hutchinson-Guilford 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.5 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.6 7
Key points
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HGPS is a very rare genetic disorder.
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Characteristic facies, wrinkled skin, prominent scalp veins, typical posture and gait, “sculpted nose”, and stunted growth will lead to the diagnosis.
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Normal motor and mental development.
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No demonstrable abnormalities of growth hormone, thyroid stimulating hormone, parathyroid hormone, and adrenal hormones.
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Increased insulin resistance.
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Presence of abnormal collagen.
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Varying degrees of generalised atherosclerosis involving chiefly the larger arteries in postmortem studies.
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Although the majority die of cardiovascular or cerebrovascular disease, between 7 and 27 years of age, many other features of ageing are absent.5
In 1886, Jonathan Hutchinson reported a case of a 3.5 year old boy who had the appearance of an old man.4 Later, Hastings Guilford reported a second case with similar features.8The term, “progeria” was taken from the Greek word for old age, “geras”,8 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 …
