Recurrent isolated orbital neurofibromas in the absence of NF1: Clinical insights and diagnostic challenges Journal Article
| Authors: | Tellioğlu, H. T.; Koc, I.; Kiratli, H.; Yildirim, S. Y.; Söylemezoǧlu, F. |
| Article Title: | Recurrent isolated orbital neurofibromas in the absence of NF1: Clinical insights and diagnostic challenges |
| Abstract: | 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. © 2025 Elsevier B.V., All rights reserved. |
| Keywords: | adult; clinical article; human tissue; middle aged; histopathology; case report; nuclear magnetic resonance imaging; magnetic resonance imaging; neurofibromatosis 1; neoplasm recurrence, local; differential diagnosis; recurrence; pathology; tumor recurrence; diagnosis; recurrent disease; visual impairment; neurofibroma; orbit tumor; orbital neoplasms; exophthalmos; orbit; neurofibromatosis type 1; heterotopia; eye movement; humans; human; female; article; pupil reflex; best corrected visual acuity; ptosis (eyelid); orbitotomy; orbit score; color vision; inferior rectus muscle |
| Journal Title: | Clinical Neuropathology |
| Volume: | 44 |
| Issue: | 4 |
| ISSN: | 0722-5091 |
| Publisher: | Dustri-Verlag Dr. Karl Feistle |
| Date Published: | 2025-07-01 |
| Start Page: | 169 |
| End Page: | 173 |
| Language: | English |
| DOI: | 10.5414/np301683 |
| PUBMED: | 40329839 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Source: Scopus |
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