Marathon of eponyms: 15 Osler-Rendu-Weber disease (Hereditary haemorrhagic telangiectasia).

The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically compromised individuals (paediatric dentistry, special care dentistry, oral and maxillofacial medicine, oral and maxillofacial pathology, oral and maxillofacial radiology and oral and maxillofacial surgery) and particularly by hospital-centred practitioners. This series has selected some of the more recognised relevant eponymous conditions and presents them alphabetically. The information is based largely on data available from MEDLINE and a number of internet websites as noted below: the authors would welcome any corrections. This document summarises data about Osler-Rendu-Weber disease.

Osler and the skin.

William Osler was the greatest physician of his time. Specialists reading his textbooks agreed that in their own specialities he was accurate and illuminating. His grasp of dermatology was particularly striking and skin changes are prominent in five of the syndromes named after him and in at least 100 of his papers. This paper describes how his early training in dermatology under Tilbury Fox in London and Hebra in Vienna combined with his unusual personal qualities to enable him to make massive contributions to a wide variety of dermatological topics. These include smallpox, cutaneous tuberculosis, nail growth, leprosy, scleroderma, pigmentation and purpuric eruptions as well as the more obvious hereditary haemorrhagic telangiectasia, angio-neurotic oedema and Osler's nodes.

Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia?

Chronic illness played a major role in the life and literary success of Robert Louis Stevenson. However, the exact nature of his chronic illness remains unclear. It is possible that Stevenson had hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber Syndrome). This would explain his chronic respiratory complaints, recurrent episodes of pulmonary hemorrhage, and his death, at age 44 years, of probable cerebral hemorrhage. It would also explain his mother's hitherto unreported but apparent stroke, at age 38 years. Further support for this hypothesis might come from new details about the health of Stevenson and his relatives or from molecular analysis of tissue specimens remaining from him.

Babington's syndrome--setting the record straight.

Mrs FM walked slowly to Guys Hospital on 5th July 1945. She had to walk slowly, for she had been increasingly breathless with exertion of late. She was to attend Ear, Nose and Throat Outpatients, and after some initial delays she was ushered in to see the consultant, Mr TB Layton. He had been appointed to the staff of Guys Hospital in 1912. He then served in the Great War, was twice mentioned in dispatches, and won the DSO. He claimed to be the first British officer to enter Jerusalem when it was taken by Allenby's forces. In a word he was a character; and much loved (Figure 1).

Osler as a medical geneticist.

Osler's immediate successor as Regius Professor at Oxford was Archibald Garrod (1857-1936), the founder of biochemical genetics. Like Mendel's, Garrod's concepts and discoveries were late in gaining wide currency and had in effect ot be rediscovered by Beadle and Tatum and by the students of biochemical individuality in the 1950s and 1960s. I have attempted to show that Garrod's predecessor Regius also contributed to medical genetics--not to its theoretical roots, to be sure, but certainly in an important way to the nosology of genetic disease.