Neurofibromatosis is a genetic disorder featuring multiple neurofibromas on the skin, various other skin phenomena, and a predisposition to particular tumors (both benign and malignant). Apart from the neurofibromas, which can be sparse or numerous, the presence of 6 or more cafe-au-lait spots may suggest the presence of this syndrome. There are two forms, type I (now known as Von Recklinghausen disease after Friedrich Daniel von Recklinghausen) and type II. The former has an incidence of 1:4000, while the latter is much rarer (1:40,000). Six other, extremely rare, forms are also recognized.

Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

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

• Information page from the National Institute of Neurological Disorders and Stroke (part of the National Institutes of Health in the United States) -- this Wikipedia article is based largely on this NINDS information page
• Home page of the National Neurofibromatosis Foundation (of the United States)
• Home page of the Texas Neurofibromatosis Foundation (of the United States)
• Home page of Neurofibromatosis, Inc. (of the United States)
• Home page of Neurofibromatosis, Inc. New England (of the United States)
• Home page of Neurofibromatosis, Inc. Mid-Atlantic (of the United States)de:Neurofibromatose

es:Neurofibromatosis fr:Neurofibromatose nl:Neurofibromatose