医学
神经纤维瘤病
丛状神经纤维瘤
神经纤维瘤
病理学
纤维神经瘤
皮肤病科
活检
病理
疾病
作者
Dorte Bechtold,Hanne Hove,Jan Ulrik Prause,Steffen Heegaard,Peter Bjerre Toft
出处
期刊:Ophthalmic Plastic and Reconstructive Surgery
[Ovid Technologies (Wolters Kluwer)]
日期:2012-07-26
卷期号:28 (6): 413-415
被引量:10
标识
DOI:10.1097/iop.0b013e3182627ea1
摘要
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.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.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.PN of the eye region is suggestive of NF1 but not pathognomonic of this disease.
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