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

Published on Aug 1, 2019in Medicine1.889
路 DOI :10.1097/MD.0000000000016699
Joo Young Kim4
Estimated H-index: 4
(Catholic University of Korea),
Mee Yon Lee8
Estimated H-index: 8
+ 1 AuthorsHye-Young Shin10
Estimated H-index: 10
Sources
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.
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#1Nisar Sonam Poonam (SN: Sankara Nethralaya)H-Index: 2
#2Shahid Alam (SN: Sankara Nethralaya)H-Index: 4
Last. Jyotirmay Biswas (SN: Sankara Nethralaya)H-Index: 33
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Abstract Purpose To report a rare case of solitary eyelid neurofiboma presenting as tarsal cyst. Observation A 64 year old male, presented with a painless, non progressive swelling in the right upper eye lid. Examination revealed a non tender, firm, mass adherent to the underlying tarsus. Excision via a conjunctival approach was performed and the histopathology was suggestive of neurofibroma. Immunohistochemistry was positive for Vimentin and focally positive for S-100. The patient did not have ...
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#1Yeon Soo Kang (Chonnam National University)H-Index: 6
#2Won Choi (Chonnam National University)H-Index: 15
Last. Kyung Chul Yoon (Chonnam National University)H-Index: 25
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#2Domenica Carmen Piraino (Sapienza University of Rome)H-Index: 4
Last. Siavash Rahimi (QA: Queen Alexandra Hospital)H-Index: 17
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Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described ...
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#1Francesco Viola (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico)H-Index: 27
#2Edoardo Villani (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico)H-Index: 23
Last. Roberto Ratiglia (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico)H-Index: 27
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Objective To investigate in a large sample of consecutive patients with neurofibromatosis type 1 (NF1) the possibility of including the presence of choroidal abnormalities detected by near-infrared reflectance (NIR) as a new diagnostic criterion for NF1. Design Cross-sectional evaluation of a diagnostic test. Participants and Controls Ninety-five consecutive adult and pediatric patients (190 eyes) with NF1, diagnosed based on the National Institutes of Health (NIH) criteria. Controls included 10...
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#1Naoko Shibata (Kanazawa Medical University)H-Index: 6
#2Kazuko Kitagawa (Kanazawa Medical University)H-Index: 14
Last. Hiroshi Sasaki (Kanazawa Medical University)H-Index: 89
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#1Kimberly Jett (UBC: University of British Columbia)H-Index: 8
#2J. M. Friedman (UBC: University of British Columbia)H-Index: 28
Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with neurofibromatosis 1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and ...
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#1Kyeong Wook Lee (SNU: Seoul National University)H-Index: 2
#2Min Joung Lee (New Generation University College)H-Index: 4
Last. Sang In Khwarg (SNU: Seoul National University)H-Index: 21
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Purpose: To report a rare case of solitary eyelid schwannoma. Case summary: A 60-year-old female visited our clinic with a small cyst-like mass of the left upper eyelid, which had developed 3 years earlier. A 33 mm-sized, nonpigmented, cyst-like mass was located in the lateral area of the left upper eyelid margin. We performed an excisional biopsy under local anesthesia. The tumor was well encapsulated, easily dissected, and could be completely removed. Histopathologic examination showed cellula...
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Purpose: To report a case of neurofibromatosis of the orbit and ocular surface. Methods: A 26-year-old man was admitted complaining of conjunctival mass and exophthalmos. Lisch nodules on the iris were observed in the right eye, and corneal opacity with neovascularization and conjunctival mass were detected in the left eye. Orbital computed tomography revealed diffuse infiltrating facial tumors including the left orbit, suggestive of plexiform neurofibromatosis. Results: We performed evisceratio...
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