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Hutchinson-Gilford disease

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A very rare disease of premature aging in young children, characterized mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. The children have large skull, bird-like features, atrophy of muscles and skin, loss of subcutaneous fat, high serum lipid levels and early atherosclerotic changes in the vessels. The child is normal at birth. Intelligence is usually normal. The average age of death is 16 years, but survival until 26 years has been recorded. Occur in children of both sexes. Death is usually caused by the effects of arteriosclerosis. Etiology and mode of genetic transmission (if any) is unknown.

Hutchinson-Gilford progeria was discovered in 1886 by Jonathan Hutchinson. He documented the clinical features of a boy aged 6 years who had congenital absence of the hair and atrophy of the skin. Hastings Gilford followed up this patient and another, and in 1897 recognized it as a clinical entity and introduced the term «progeria» from the Greek word meaning "prematurely old". In his case report published in 1904 he provided a set of pictures of the disorder from infancy to the age of 17 years, in which the characteristic alopecia, fat loss and premature ageing are clearly depicted.

A possible earlier report in Phlegontis's Tralliani de Mirabilibus relates to Craterus, who went from infancy to old age and death, within a life span of seven years. Another classical description appeared in the St. James Gazette concerning Hopkin Hopkins, a well-known exhibitionist: "March 19th, 1754. Died in Glamorganshire of mere old age and a gradual decay of nature at 17 years and 2 months, Hopkin Hopkins, the little Welschman, lately shown in London. He never weighed more than 17 pounds, but for 3 years past, no more than 12."

There are less than 100 known cases in history and less than 20 known cases are alive today of this extremely rare syndrome.

E. P. Waldorp and E. B. del Castillo used the conjoined eponym "Hutchinson-Gilford syndrome" in 1928 and in 1972 De Busk reviewed 60 cases under this title. The genetic basis of progeria is uncertain; although a few instances of affected siblings have been reported, the majority of cases have been sporadic.


  • J. Hutchinson:
    A case of congenital absence of hair with atrophic condition of the skin and its appendages.
    Lancet, London, 1886, 1: 923. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six.
    Transactions of the Medico-Chirurgical Society of Edinburgh, 1886, 69: 473-477.
  • H. Gilford:
    On a condition of mixed premature and immature development.
    Medico-Chirurgical Transactions, London, 1897, 80: 17-45. Progeria: a form of senilism.
    Practitioner, London, 1904, 73: 188-217.
  • E. P. Waldorp, E. B. del Castillo:
    Infantilisme gérodystrophique des auterus: varieté clinique de la "progeria" de Hastings Gilford ou "nanisme sénile" de Variot et Pironneau.
    La presse médicale, Paris, 1928, 36: 1221-1223.
    Variot is the French pediatrician Gaston Variot (1855-1930).
  • V. A. McKusick:
    Dedication to Jonathan Hutchinson. Part XII Clinical Delineation of Birth Defects, Skin, Hair, and Nails.
    Birth Defects Original Article Series, New York, 1971, 7: 1-2.
  • F. L. De Busk:
    The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.
    Journal of Pediatrics, St. Louis, 1972, 80: 697-724.

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