[Management of craniofacial type 1 neurofibromatosis]

Rev Stomatol Chir Maxillofac Chir Orale. 2015 Sep;116(4):209-14. doi: 10.1016/j.revsto.2015.06.004. Epub 2015 Jul 17.
[Article in French]


Type I neurofibromatosis (NF) is the most common autosomal dominant disease. It concerns one in 3000 births, the penetrance is close to 100% and 50% of new cases are de novo mutations (17q11.2 chromosome 17 location). Cranio-maxillofacial region is concerned in 10% of the cases, in different forms: molluscum neurofibroma, plexiform neurofibroma, cranio-orbital neurofibroma, parotido-jugal neurofibroma, cervical neurofibroma. These lesions have different prognosis depending on the craniofacial localization: ocular functional risk, upper airway compressive risk, nerve compression risk, aesthetic and social impact. The maxillofacial surgeon in charge of patients with type I NF should follow the patient from the diagnosis and organize the different surgical times in order to take care about the different issues: vital, functional and aesthetic. We describe the treatment of facial localizations of type 1 NF as it is done at the University Hospital of Lyon and at the Rhône-Alpes-Auvergne neurofibromatosis reference center.

Keywords: Chirurgie reconstructrice; Neurofibromas; Neurofibromatose de type 1; Neurofibromatosis 1; Neurofibromes; Neurofibromes plexiformes; Plexiform neurofibromas; Reconstructive surgical procedures.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Facial Neoplasms / diagnosis
  • Facial Neoplasms / therapy
  • Head and Neck Neoplasms / diagnosis
  • Head and Neck Neoplasms / therapy*
  • Humans
  • Neurofibroma, Plexiform / diagnosis
  • Neurofibroma, Plexiform / therapy
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / therapy*
  • Orbital Neoplasms / pathology
  • Orbital Neoplasms / therapy
  • Plastic Surgery Procedures / methods
  • Skull Neoplasms / diagnosis
  • Skull Neoplasms / therapy