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Recurrent isolated orbital neurofibromas in the absence of NF1: Clinical insights and diagnostic challenges
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Recurrent isolated orbital neurofibromas in the absence of NF1: Clinical insights and diagnostic challenges
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Journal Article
Recurrent isolated orbital neurofibromas in the absence of NF1: Clinical insights and diagnostic challenges
2025
Overview
Orbital neurofibromas are benign tumors originating from the peripheral nerve sheath, often linked to neurofibromatosis type 1 (NF1) [1], although they account for less than 1% of all orbital tumors [2, 3]. These tumors can cause symptoms such as proptosis, vision impairment, and ocular misalignment [4]. While typically linked to NF1, multiple isolated orbital neurofibromas in the absence of a definitive NF1 diagnosis remain exceedingly rare, warranting clinical attention. A 56-year-old female presented with ptosis and dystopia on the right side. MRI revealed multiple intraorbital and extraconal masses, with the largest being excised via anterior orbitotomy. Histopathological analysis confirmed the diagnosis of neurofibroma. The patient had no cutaneous or systemic signs suggestive of NF1. In adults, multiple orbital tumors should prompt suspicion for neurofibromas, even when NF1 is not confirmed. Furthermore, recurrence is possible, emphasizing the importance of long-term follow-up. This case highlights the diagnostic challenge posed by orbital neurofibromas without NF1 and the need for comprehensive systemic evaluation in such presentations.
Publisher
Dustri - Verlag Dr. Karl Feistle GmbH & Co. KG
