Legendre CM, C Charpentier, R Drouin & C Bouffard (2011), “Neurofibromatosis Type 1 and the ‘‘Elephant Man’s’’ Disease: The Confusion Persists: An Ethnographic Study”, PloS One, 6(2): e16409.
Source : plosone.org
During informal interviews in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents, some members of Canadian neurofibromatosis associations stated to the authors that they continue to be told the condition that afflicts them or their children is the ‘‘elephant man’s’’ disease. This puzzled us, because the identification of neurofibromatosis with the condition from which Joseph Merrick, the so called ‘‘elephant man’’, suffered does not correspond to current medical knowledge.
For many years, it was thought that Joseph Merrick, widely known as the ‘‘elephant man’’ (Figure 1), suffered from NF1 [1,2,3,4,5,6]. From 1909 on, however, other diagnoses were advanced. At last, in 1986, Canadian geneticists Tibbles and Cohen demonstrated that Merrick was actually afflicted with Proteus syndrome [7].
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