A rare case of bilateral orbital neurofibroma in a young healthy man is presented. The clinical, pathological and radiological features are described. The mass was excised using lateral orbitotomy approach in both the eyes. A definitive diagnosis was made on histopathological examination. The need for recognition and differentiation from the other causes of lacrimal gland swellings is discussed. A complete systemic evaluation in such cases is essential to rule out any associated disorders; however, such an association may not be universal.
Bilateral Isolated Orbital Neurofibroma
From the Orbit and Oculoplasty Services, Aravind Eye Hospital & Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Usha Kim, Professor & Consultant, Aravind Eye Hospital & Postgraduate, Institute of Ophthalmology, 1 Anna Nagar, Madurai 625 020, Tamil Nadu, India.
Accepted: March 23, 2009
Posted Online: March 09, 2010
Bilateral Orbital Neurofibroma
Isolated neurofibromas of the orbit are rare with an overall incidence of less than 1%.1 Bilateral orbital neurofibroma is even rarer and has been reported previously only in two patients in literature.2,3,4 Two of these previously reported cases2,3 have been associated with systemic diseases and only one case4 has been described in a healthy individual. We describe here a rare case of a patient who presented with bilateral orbital masses, which were diagnosed as neurofibromas on histopathology. The patient, however, did not have any other systemic associations. To the best of our knowledge, this is the second case report of occurrence of isolated neurofibroma of both the orbits in an otherwise healthy individual.
A 12-year-old boy presented with the complaint of swelling on the lateral aspect of the upper lid in both eyes for the past 2 months. On examination, he was found to have a firm mass in the lacrimal gland area in both the eyes. The mass was mildly tender and bigger in the left eye. The rest of the ocular examination was normal. On everting the upper lid, the prolapsed palpebral lobe of the lacrimal gland was visible in both the eyes. The rest of the ocular examination was normal. The extraocular movements were normal. The general physical examination revealed enlarged submandibular lymph nodes. An ultrasonography revealed enlarged lacrimal gland on both sides, more on the left side. A presumptive diagnosis of dacryoadenitis was made and the patient was investigated for the same. All the blood investigations were within normal limits and he was started on oral steroids (1 mg/kg body weight). However, the patient did not respond to steroids with the mass measuring the same on ultrasonography after 1 month of follow-up. A computed tomography (CT) scan (Fig. 1) was done, which showed a moderately enhancing mass lesion in the superotemporal orbit of the left eye. A similar but smaller mass was seen in the right eye. The patient underwent a lateral orbitotomy with excision of the mass in the left eye. The histopathological examination was suggestive of neurofibroma (Fig. 2). Subsequently, the patient was lost to follow-up. He presented again 10 years later with the complaint of swelling in the superotemporal aspect of the right eye increasing for the past 1 year with mild pain. On examination, he had S-shaped ptosis of the right upper eyelid (Fig. 3). A firm mass was palpable in the superotemporal quadrant of the right eye. The rest of the ocular examination was normal. A repeat CT scan (Fig. 4) showed a heterogeneously enhancing soft tissue lesion in superotemporal quadrant of the right orbit. The patient underwent a right-sided lateral orbitotomy with debulking of the mass. The histopathology was suggestive of a neurofibroma (Figs. 5A and 5B). A subsequent extensive systemic work-up of the patient was normal with no evidence of neurofibromatosis or any systemic disorder.
Figure 1. Coronal Computed Tomogram Showing a Mass Lesion in the Supero-Temporal Areas of Both Orbits.
Figure 2. Histopathology of the Lesion Showing Proliferation of Loosely Interwoven Bundles of Spindle Shaped Cells Separated by Loose Myxomatous Tissue (hematoxylin and Eosin, × 400)
Figure 3. Clinical Photograph of the Patient Showing Mass in the Right Lacrimal Gland Area of the Right Side Causing S Shaped Ptosis.
Figure 4. Coronal CT Scan Showing a Mass in the Superotemporal Orbit of the Right Side. The Left Orbit Shows Post-Orbitotomy Changes.
Figure 5. (A) Histopathology from the Right Side Obital Mass Showing Mucinous Degeneration with Interspersed Bundle of Spindle Cells with Thick Hyalinized Collagen Due to Long Standing Duration of the Tumour (hematoxylin and Eosin, × 400). (B) The Lesion Stained Positive with Alcian Blue (Alcian Blue, × 400)
Isolated neurofibromas of the orbit usually present as discrete, well-defined masses in middle aged adults. These tumors maybe solitary or multiple in nature. Localized neurofibromas can be associated with systemic neurofibromatosis in approximately 12% of cases.5
Our patient presented with bilateral asymmetric superotemporal orbital masses with mild tenderness, which led to a working diagnosis of dacryoadenitis. However, no response to steroids prompted us to revise our diagnosis to a lacrimal gland mass, which turned out to be a neurofibroma on biopsy. The patient presented 9 years later with a similar growth in the lacrimal gland area of the other eye, which was also excised and was proven to be again a neurofibroma on histopathology. There was no recurrence of the mass in the first eye 9 years after the excision. Neurofibromas are usually slow-growing tumours. They have a very low rate of recurrence and malignant transformation and are best treated by complete surgical excision.6
Bilateral isolated neurofibromas are very rare and the previously reported two of three reported cases in literature had associated systemic diseases (MEN type IIb and Charcot Marie tooth disease, respectively).2,3 Our patient presented with bilateral asymmetric orbital masses only with no other systemic complaints. The patient did not have any features of Von Recklinghausens disease or any endocrine syndromes. We thus advocate that a diagnosis of neurofibroma should be kept in mind for all slow-growing bilateral masses of the lacrimal gland area. Such masses usually warrant an excision with a histopathological examination to confirm the diagnosis. The patient can be assured about the benign nature of the disease and low chances of recurrence post-excision.
An extensive systemic evaluation should be done in all cases of bilateral orbital neurofibromas to rule out associated neurofibromatosis or any other endocrine disorders. But it should be kept in mind that bilateral orbital neurofibromas can also occur in isolation without any systemic association.
- Rootman J, Robertson WD. Neurogenic tumors. In: Rootman J, ed. Diseases of orbit. Philadelphia: JB Lippincott, 1988;281–334.
- Meyer DR, Wobig JL: Bilateral localized orbital neurofibromas. Ophthalmology. 1992;99:1313–1317.
- Ma`luf RN, Noureddin BN, Ghazi NG, et al. Bilateral, localized orbital neurofibromas and Charcot Marie Tooth Disease. Arch Ophthalmol. 2005;123:1443–1445. doi:10.1001/archopht.123.10.1443 [CrossRef]
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- Jakobiec FA, Jones IS. Neurogenic tumors. In : Jones IS, Jakobiec FA, eds. Diseases of the obit. Hagerstown, MD: Harper and Row, 1979:371–415.