ID | 67530 |
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著者 |
Matsuo, Toshihiko
Graduate School of Interdisciplinary Science and Engineering in Health Systems, Okayama University
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Nishida, Kenji
Department of Pathology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
Tanaka, Takehiro
Department of Pathology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
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Seno, Takaya
Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
Yamada, Kiyoshi
Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
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Ono, Shigeki
Department of Neurological Surgery, General Medical Center, Kawasaki Medical School
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抄録 | Backgrounds Iris nodules are frequently noted as clinical manifestations of neurofibromatosis type 1 but the other intraocular manifestations are rare. The purpose of this study is to present a patient with a phthisic eye who underwent enucleation for a cosmetic reason after 15-year follow-up and also to review 14 patients with enucleation described in the literature.
Case presentation A 17-year-old man with neurofibromatosis type 1 from infancy underwent the enucleation of phthisic left eye and also had the resection of eyelid subcutaneous mass lesions on the left side for a cosmetic reason. He had undergone four-time preceding surgeries for eyelid and orbital mass reduction on the left side in childhood and had developed total retinal detachment 10 years previously. Pathologically, the enucleated eye showed massive retinal gliosis positive for both S-100 and glial fibrillary acidic protein (GFAP) in the area with involvement of the detached retinal neuronal layer, together with a more fibrotic lesion along the choroid which were, in contrast, negative for both S-100 and GFAP. The choroid, ciliary body, and iris did not show apparent neurofibroma while episcleral neurofibroma was present. Literature review In review of enucleated eyes of 14 patients in the literature, buphthalmic eyes with early-onset glaucoma on the unilateral side was clinically diagnosed in 9 patients who frequently showed varying extent of hemifacial neurofibromatosis which involved the eyelid and orbit on the same side. Pathologically, neurofibromas in varying extent were found in the choroid of 12 patients. One patient showed choroidal malignant melanoma on the left side and fusiform enlargement of the optic nerve on the right side suspected of optic nerve glioma. The phthisic eye in another patient showed massive retinal gliosis similar to the present patient. Conclusions In summary of the 15 patients with neurofibromatosis type 1, including the present patient, buphthalmic or phthisic eyes with no vision were enucleated for cosmetic reasons and showed choroidal neurofibroma in most patients and massive retinal gliosis in two patients including the present patient. |
キーワード | Neurofibromatosis type 1
Enucleation
Eye
Pathology
Massive retinal gliosis
Choroidal neurofibroma
Phthisis
Buphthalmos
Malignant melanoma
Cosmetic surgery
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備考 | The version of record of this article, first published in BMC Ophthalmology, is available online at Publisher’s website: http://dx.doi.org/10.1186/s12886-024-03604-5
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発行日 | 2024-08-13
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出版物タイトル |
BMC Ophthalmology
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巻 | 24巻
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号 | 1号
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出版者 | Springer Science and Business Media LLC
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開始ページ | 341
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ISSN | 1471-2415
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © The Author(s) 2024.
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論文のバージョン | publisher
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関連URL | isVersionOf https://doi.org/10.1186/s12886-024-03604-5
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ライセンス | http://creativecommons.org/licenses/by-nc-nd/4.0/
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Citation | Matsuo, T., Nishida, K., Tanaka, T. et al. Pathological findings in enucleated eyes of patients with neurofibromatosis type 1: report of a case with 15-year follow-up and review of 14 patients in the literature. BMC Ophthalmol 24, 341 (2024). https://doi.org/10.1186/s12886-024-03604-5
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