Legendre C-M, Charpentier C, Drouin R, & C Bouffard (2011), “Neurofibromatosis type 1: Persisting misidentification with the “Elephant Man” disease”, J Am Board Family Med, Jan-Feb; 24(1): 112-114.
For many years it was thought Joseph Merrick, widely known as the Elephant Man, had suffered from neurofibromatosis type 1 (NF1).1 In 1986, geneticists Tibbles and Cohen2 demonstrated that Merrick was actually afflicted with Proteus syn- drome, a much rarer condition. With an estab- lished diagnosis of Merrick’s real disease and cur- rent knowledge about NF1, NFI should no longer be misguidedly identified with the disease the Ele- phant Man had. However, our recent experience in the context of an ongoing ethnographic study of intergenerational dialogue between adolescents with NF1 and their parents revealed that some physicians continue to identify NF1 as the same as Merrick’s condition. This prompted us to investi- gate further, and we found that the confusion also persists in the current use of “Elephant Man’s dis- ease” as a synonym for and in media coverage of NF1.Consultez l'article