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1型神经纤维瘤病伴睑结膜增厚:一例报告

Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report.

作者信息

Kim Joo Young, Lee Mee Yon, Lee Young Chun, Shin Hye-Young

机构信息

Department of Ophthalmology, Uijeongbu St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Medicine (Baltimore). 2019 Aug;98(31):e16699. doi: 10.1097/MD.0000000000016699.

DOI:10.1097/MD.0000000000016699
PMID:31374061
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6709170/
Abstract

RATIONALE

We report a rare case of neurofibroma in the form of tarsal conjunctival thickening of the eyelid in patients with neurofibromatosis type 1 (NF1), common ocular complications of which are Lisch nodules, choroidal nodules, and optic nerve glioma.

PATIENT CONCERNS

A 46-year-old female patient was diagnosed with neurofibroma after biopsy and removal of 2 lumbar level intradural masses 15 years ago. She was being monitored without recurrence. When the patient visited our hospital, multiple iris Lisch nodules were found in both her eyes with ill-defined, diffuse thickening in the upper eyelid tarsal conjunctiva of the right eye.

DIAGNOSIS

Neurofibroma was diagnosed by incisional biopsy and immunohistochemistry of the tarsal conjunctiva.

INTERVENTIONS

The patient of the present case did not undergo any additional surgical treatment because tarsal conjunctiva thickening caused little functional problem.

OUTCOMES

The patient has only been regularly examined for changes in size of neurofibroma, and there was no change in size over a 12-month period.

LESSONS

Neurofibroma should be considered as a differential diagnosis if a patient diagnosed with NF1 shows tarsal conjunctiva thickening.

摘要

原理

我们报告了1例1型神经纤维瘤病(NF1)患者中以睑板结膜增厚形式出现的罕见神经纤维瘤病例,其常见眼部并发症有Lisch结节、脉络膜结节和视神经胶质瘤。

患者情况

一名46岁女性患者15年前经活检及切除2个腰椎水平硬膜内肿物后被诊断为神经纤维瘤。她一直接受监测,未复发。患者来我院就诊时,双眼发现多个虹膜Lisch结节,右眼上睑睑板结膜有边界不清的弥漫性增厚。

诊断

通过睑板结膜切开活检及免疫组化诊断为神经纤维瘤。

干预措施

本例患者未接受任何额外手术治疗,因为睑板结膜增厚几乎未引起功能问题。

结果

该患者仅定期检查神经纤维瘤大小变化,12个月内大小无变化。

经验教训

如果诊断为NF1的患者出现睑板结膜增厚,应考虑神经纤维瘤作为鉴别诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/507b060bc165/medi-98-e16699-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/e414671c1aac/medi-98-e16699-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/aec333a698bf/medi-98-e16699-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/3a5519f53343/medi-98-e16699-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/3ef79f464320/medi-98-e16699-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/507b060bc165/medi-98-e16699-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/e414671c1aac/medi-98-e16699-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/aec333a698bf/medi-98-e16699-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/3a5519f53343/medi-98-e16699-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/3ef79f464320/medi-98-e16699-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43da/6709170/507b060bc165/medi-98-e16699-g005.jpg

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Solitary eyelid neurofibroma presenting as tarsal cyst: Report of a case and review of literature.表现为睑板囊肿的孤立性眼睑神经纤维瘤:1例报告并文献复习
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