Neurofibromatosis and Elephant Man Disease

The Board of Directors of the Association de la neurofibromatose du Québec (ANFQ) is concerned about the fact that a few members of the medical profession continue to associate neurofibromatosis with Elephant Man disease. First described in 1885, and then in 1923, by Frederick Treves, and reviewed in 1971 by Ashley Montagu, the condition and personality of John – or Joseph – Merrick – the Elephant .Man – have been the subject of a great deal of media hype in the cinema, at the theatre, on television and in all kinds of publications. The film was shown again recently on one of our television networks.

Dermatologists Crocker, in 1905, and Weber, in 1909, had suggested that Merrick had neurofibromatosis. In 1982, a group of clinicians who had examined his skeleton affirmed that he had suffered from three different diseases. In 1986 and in 1988, two Canadian geneticists, J. Tibbles and M. Cohen, demonstrated that Merrick – the Elephant Man – had not had neurofibromatosis, but had suffered from the Proteus Syndrome. Even if there is still no unanimity as to the actual condition of Joseph Merrick, it is however generally acknowledged today that he did not have neurofibromatosis, or von Recklinghausen's disease.

The stakes of this identification are considerable: considering the imaginary stigma created by the publicity given to the Elephant Man, it is a tragic event in a family to learn that one or more of its members, with neurofibromatosis, allegedly suffer from Elephant Man disease, that is, that their condition could degenerate to the point of being a monster. As a result, people with the disease and their close ones can become profoundly affected by the idea of such an eventuality.

The ANFQ is asking members of the medical profession who have patients with NF to properly inform about the recent knowledge confirming with certainty that there is no relation between these two diseases and that there should be no fear that a patient with NF may in any way come to resemble the Elephant Man. The ANFQ would be grateful if patients with NF were well reassured in this regard.

(For more information, see chapter 11, "The Specter of the Elephant Man", of Joan Ablon's bookLiving with Genetic Disorder : The Impact of Neurofibramatosis 1, Westport CT, Auburn House, 1999, 105-112)

Lise Gagner-Frenette

Alfred Dubuc
Board Member