title: Plexiform neurofibroma of the eye region occurring in patients without neurofibromatosis type 1.
abstract: OBJECTIVE
  The purpose of the present study was to investigate the correlation between Plexiform Neurofibroma (PN) of the eye region and Neurofibromatosis type 1 (NF1). According to the textbooks of ophthalmology, PN and NF1 are very closely linked. Our clinical experience raised doubts about this, however.
  
  
  METHODS
  All biopsy reports from the Eye Pathology Institute, Copenhagen, for the 10-year period from 1999 to 2008 with PN as the histological diagnosis were identified. From the pathology referral forms, we determined whether the patients had had a history of NF1, and the medical records were reviewed for symptoms and signs of NF1. Patients with no known NF1 were invited for a clinical examination and a blood test for mutation analysis.
  
  
  RESULTS
  13 patients had been given the histological diagnosis of PN of the eye region during the 10-year period. Of these, 10 patients fulfilled the National Institute of Health (NIH) diagnostic criteria for NF1, but 3 patients had PN of the eye region as the only sign, and thus did not have NF1. In 2 of these patients, mutation analysis was performed on blood, and was negative.
  
  
  CONCLUSIONS
  PN of the eye region is suggestive of NF1 but not pathognomonic of this disease.
authors: Department of Ophthalmology, Odense University Hospital and Svendborg Hospital, Odense, Denmark.
authors: Dorte
authors: D
authors: Bechtold
authors: Hanne D
authors: HD
authors: Hove
authors: Jan U
authors: JU
authors: Prause
authors: Steffen
authors: S
authors: Heegaard
authors: Peter B
authors: PB
authors: Toft
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005142:Eyelid Neoplasms / Q000175:diagnosis* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018318:Neurofibroma, Plexiform / Q000175:diagnosis* / Q000601:surgery; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D025542:Neurofibromin 1 / Q000235:genetics; D009918:Orbital Neoplasms / Q000175:diagnosis* / Q000601:surgery; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; D025542:Neurofibromin 1