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http://dx.doi.org/10.1097/GOX.0000000000005108 | DOI Listing |
J Maxillofac Oral Surg
September 2023
Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Martinistraße 52, 20246 Hamburg, Germany.
Introduction: Facial plexiform neurofibromas (FPNF) are rare tumors frequently diagnosed in patients with neurofibromatosis type 1 (NF1), a tumor predisposition syndrome. FPNF often grows invasively and destructively, which may complicate surgical treatment. Data on the frequency, location, and surgical procedures of patients with NF1-associated FPNF are scarce.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
July 2023
From the Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
To evaluate and compare the clinical and histopathological profile of primary and recurrent orbital-periorbital plexiform neurofibromas (OPPN) in patients with neurofibromatosis type 1. We retrospectively evaluated 43 primary or recurrent neurofibroma (NF) specimens from 26 patients (2002 to 2018) at the King Khaled Eye Specialist Hospital, Saudi Arabia. Demographics, clinical presentation, and surgical intervention data were collected.
View Article and Find Full Text PDFChilds Nerv Syst
June 2021
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Introduction: Plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1) are usually diagnosed in childhood and can grow rapidly during this period. In 10% of patients, PNF involve the orbital-periorbital area and may cause visual problems including glaucoma, visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression, or keratopathy. Ptosis, proptosis, and facial disfigurement lead to social problems and decreased self-esteem.
View Article and Find Full Text PDFBMC Med Genet
September 2019
Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, No 639 Zhi Zao Ju Road, Shanghai, 200011, China.
Background: Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not been reported.
Methods: The medical charts of 26 Chinese patients with OPPN from 12 families were reviewed.
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