Neurofibromatosis type 1: persisting misidentification of the "elephant man" disease

J Am Board Fam Med. 2011 Jan-Feb;24(1):112-4. doi: 10.3122/jabfm.2011.01.100219.


Background: during informal interviews in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents, many members of Canadian neurofibromatosis associations have stated that they continue to be told the condition that afflicts them or their children is "elephant man's disease." Today, even though well-established clinical criteria make it possible to diagnose and differentiate the 2 diseases, the confusion between neurofibromatosis type 1 (NF1) and elephant man's disease persists in both the media's and physicians' representations.

Methods: this was an ethnographic study in medical anthropology.

Discussion: some reference sources and print and online news media have all contributed to the persistence of the association between NF1 and elephant man's disease. Our observations suggest that confusing NF1 with the Elephant Man's condition harms the interests of those with NF1 and thus increases the burden of the disease.

Conclusion: changes of attitude regarding medical teaching and the media could dispel the confusion among physicians and journalists.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anthropology, Cultural
  • Diagnostic Errors*
  • Humans
  • Names
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology
  • Proteus Syndrome / diagnosis*
  • Proteus Syndrome / genetics
  • Proteus Syndrome / pathology