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Rendu-Osler-Weber disease

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A familial syndrome characterised by multiple telangiectasia of the skin, and of the oral, nasal and gastrointestinal mucous membranes. They are liable to ulcerate and bleed. Epistaxis and gastrointestinal haemorrhages are common features. Arteriovenous fistula, especially of the lungs and liver, are a variable component. Bleeding from the telangiectases may be recurrent, life-threatening and increase in severity with aging. Onset often in childhood. Both sexes affected equally. Inheritance is autosomal dominant.

The disturbance was first described by Henry Gawen Sutton (1836-1891) in 1864, Benjamin Guy Babington (1794-1866) in 1865 published a case in an account of hereditary epistaxis, and by John Wickham Legg (1843-1921) described it in 1876. Rendu in 1896 first differentiated the condition from haemophilia, when he gave a detailed description of a male aged 52 years old who had endured repeated nose bleeds. He recorded the presence of multiple haemangiomatous spots on the skin of face and trunk and on the lips, tongue and palate and speculated that lesions in the nose were probably responsible for the epistaxes. Rendu noted that the mother had experienced similar problems.

William Bart Osler (1849-1919) in 1901 authored the first comprehensive description of the disease, emphasizing the familial nature of the condition. Of Osler’s three patients, two came from a family in which epistaxis had appeared in seven members; both had bled at the nose from childhood, and both had numerous angiomata on the skin of the face and on the mucous membranes of the nose, lips, cheeks, and tongue. The third patient had suffered from epistaxis since the age of ten.

Fredrick Parkes Weber (1863-1962) in 1907 amplified the clinical description in a report of a series of cases. At the beginning of the 20th century Osler’s name was appended to the disorder, but the triple eponym came into use and has now gained universal acceptance.

A haemorrhagic telangiectasia syndrome which is a form of this syndrome has been called Jaccoud-Osler disease. Jaccoud is the Swiss physician Sigismond Jaccoud (1830-1913).

Bibliography

  • H. G. Sutton:
    Epistaxis as an indication of impaired nutrition, and of degeneration of the vascular system.
    Medical Mirror, London, 1864, 1: 769-781
  • B. G. Babington:
    Hereditary epistaxis.The Lancet, London, 1865, 2: 362-353.
  • J. W. Legg:
    A case of haemophilia complicated with multiple naevi.
    The Lancet, 1876, 2: 856
  • M. Rendu:
    Epistaxis répétés chez un sujet porteur de petits angiomes cutanés et muqueux.
    Lancette française: gazette des hôpitaux civils et militaires, Paris, 1896, 69: 1322-1323.
    Also in: Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1896, 13: 731-733.
  • W. B. Osler:
    On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes.
    The Johns Hopkins Hospital Bulletin, 1901, 12: 333-337.
    Reprinted in Medical Classics, 1939, 4: 243-253. On multiple hereditary telangiectases with recurrent haemorrhages.
    Quarterly Journal of Medicine, Oxford, 1907, 1: 53-58.
  • F. P. Weber:
    A note on cutaneous telangiectases and their etiology. Comparison with the etiology of haemorrhoids and ordinary varicose veins.
    Edinburgh Medical Journal, 1904: 346-349. Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages.
    Lancet, London, 1907, 2: 160-162. Haemorrhagic telangiectasia of the Osler-type «telangiectatic dysplasia» and isolated case, with discussion on multiple pulsating stellate telangiectases and other striking haemangiectatic conditions.
    British Journal of Dermatology, Oxford, 1936, 48: 182-193.
  • H. I. Goldstein:
    Hereditary hemorrhagic telangiectasia with recurring (familial) hereditary epistaxis. Archives of Internal Medicine, Chicago, 1921, 27: 102-125.

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