The phakomatoses are a group of genetic disorders with both neurologic and cutaneous manifestations (thus, neurocutaneous syndromes). In addition to the types of neurofibromatosis, the phakomatoses also include Tuberous Sclerosis, Sturge-Weber , and Von Hippel-Lindau. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.
Currently, there are at least eight different types of neurofibromatosis. Of these eight, only the first two neurofibromatosis type I, also known as 'von Recklinghausen syndrome', and neurofibromatosis type II are widely encountered. Despite both bearing the moniker 'neurofibromatosis,' these two diseases are completely separate entities, and the reader is referred to those links for a more thorough discussion of each disease.
Joseph Merrick, the Elephant Man, was once considered to have been afflicted with either elephantiasis or neurofibromatosis type I. However, it is now widely believed that Merrick suffered from the very rare Proteus syndrome.
External links