TY - JOUR
T1 - Plexiform neurofibroma of the eye region occurring in patients without neurofibromatosis type 1
AU - Bechtold, Dorte
AU - Hove, Hanne D
AU - Prause, Jan Ulrik
AU - Heegaard, Steffen
AU - Toft, Peter B
PY - 2012/11
Y1 - 2012/11
N2 - PURPOSE:: 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. CONCLUSION:: PN of the eye region is suggestive of NF1 but not pathognomonic of this disease.
AB - PURPOSE:: 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. CONCLUSION:: PN of the eye region is suggestive of NF1 but not pathognomonic of this disease.
U2 - 10.1097/iop.0b013e3182627ea1
DO - 10.1097/iop.0b013e3182627ea1
M3 - Journal article
C2 - 22836801
SN - 0740-9303
VL - 28
SP - 413
EP - 415
JO - Ophthalmic Plastic and Reconstructive Surgery
JF - Ophthalmic Plastic and Reconstructive Surgery
IS - 6
ER -