|Year : 2014 | Volume
| Issue : 6 | Page : 735-737
An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism
J Saravanan, A Rajendraprasad, S Priyadharshni
Department of Ophthalmology, Coimbatore Medical College, Coimbatore, Tamil Nadu, India
|Date of Submission||21-Sep-2013|
|Date of Acceptance||19-Dec-2013|
|Date of Web Publication||8-Jul-2014|
Dr. J Saravanan
Department of Ophthalmology, Coimbatore Medical College, Coimbatore-641 018, Tamil Nadu
Source of Support: None, Conflict of Interest: None
A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.
Keywords: Oculocutaneous albinism, orbital plexiform neurofibroma, proptosis
|How to cite this article:|
Saravanan J, Rajendraprasad A, Priyadharshni S. An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism. Indian J Ophthalmol 2014;62:735-7
|How to cite this URL:|
Saravanan J, Rajendraprasad A, Priyadharshni S. An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism. Indian J Ophthalmol [serial online] 2014 [cited 2020 May 28];62:735-7. Available from: http://www.ijo.in/text.asp?2014/62/6/735/136259
Neurofibromas are benign nerve sheath tumors consisting of Schwann cells, fibroblasts and embedded axons. The most common location of neurofibromas is the lower limb followed by the upper limbs, trunk, the head and neck.  Neurofibromas of the orbit are rare.  Orbital neurofibromas associated with neurofibromatosis 1 or Von Recklinghausen's disease have been reported.  Isolated orbital neurofibroma unassociated with systemic neurofibromatosis is relatively rare. 
Albinism consists of a group of inherited abnormalities of melanin synthesis and is typically characterized by a congenital reduction or absence of melanin pigment. These disorders are generally sub-classified as oculocutaneous albinism or ocular albinism based on the extent of pigmentation of the skin, hair and eye. Oculocutaneous albinism is a group of 4 autosomal recessive disorders; whereas ocular albinism is X-linked or uncommonly autosomal recessive.
The coincidental presentation of oculocutaneous albinism with isolated plexiform orbital neurofibroma without any systemic manifestations of neurofibromatosis is very rare.
| Case Report|| |
A 70-year-old female with oculocutaneous albinism, presented with proptosis of the right eye for 15 days and defective vision of both eyes since birth, which got worsened in the right eye for the past 15 days. There was no similar history among family members.
Ophthalmological examination revealed visual acuity of HM and 20/400 in RE and LE, respectively. Eccentric proptosis of right eye was seen (27 mm Hertel in RE and 15 mm Hertel in LE) with fullness in the superotemporal quadrant of the right orbit [Figure 1]. Extra ocular movements were restricted in all directions. Anterior segment of both eyes showed iris transillumination defects, a normal pupillary reaction and nuclear sclerosis. Intraocular pressure (IOP) was normal. Hypopigmentation of fundus with foveal hypoplasia was seen in both eyes.
Ultrasound of right eye showed low to moderate echogenic mass in the superotemporal quadrant of the orbit.[Figure 2] Computed tomography (CT) and magnetic resonance imaging (MRI) of orbit showed a well-defined lobulated, elongated mass of mixed intensity, measuring 7.1 × 3.6 × 2.8 cm with well-enhancing solid and non-enhancing cystic areas in the superior part of the right orbit. The mass extended posteriorly through the superior orbital fissure into the right cavernous sinus. Invasion of the lesser wing of sphenoid was also noted. Superiorly there was erosion of roof of the orbit with intracranial and extra dural extension. Optic nerve was displaced inferiorly by the mass. There was erosion of medial wall of the orbit with extension into the posterior ethmoidal sinus [Figure 3] and [Figure 4]. Imaging features were in favor of orbital neurofibroma, so radiologist suggested fine needle aspiration cytology or biopsy to confirm the diagnosis. Excision biospy was performed under general anesthesia (GA). Histopathological examination (HPE) showed features suggestive of plexiform neurofibroma. [Figure 5] Neurosurgeon's opinion was obtained. However, they could not guarantee a total extirpation of the intracranial part of the plexiform neurofibroma. Malignant transformation of intraorbital neurofibroma during radiation therapy has been reported.  Hence, radiotherapy was not advised. The patient was advised periodic follow up but she did not turn up.
|Figure 3: CT orbit shows cystic mass with peripheral enhancement extending into cavernous sinus with eroding lesser wing of sphenoid bone|
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|Figure 4: MRI orbit shows mass with cystic space extending into cavernous sinus|
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|Figure 5: Histopathological study reveals plexiform neurofibroma H and E, ×10)|
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| Discussion|| |
Neurofibromas of the orbit are rare and account for 0.6-2.4% of all orbital tumors.  They may be of three subtypes namely, plexiform, diffuse and localized neurofibromas.
Plexiform neurofibromas, the most common orbital subtype, occur exclusively in neurofibromatosis type 1. 
Diffuse neurofibromas are usually the dermal variants; they rarely affect the orbit and are clinically indistinguishable from the plexiform subtype.
Histologically, diffuse neurofibromas show greater cellularity, less collagen deposition, and lack the cellular peri-neural sheathing characteristic of plexiform neurofibromas. Both the plexiform and diffuse subtypes lack clear margination and tend to be highly vascular. ,
Localized neurofibromas of the orbit are uncommon. They are relatively well circumscribed and much less vascular. 
Though this patient was diagnosed to have plexiform neurofibroma of the orbit, other clinical manifestations of neurofibromatosis 1 were absent. Isolated plexiform neurofibromas without the systemic features of neurofibromatosis 1 have been reported at other anatomical sites;  however, their location in orbit is relatively rare.
Similar cases of orbital plexiform neurofibromas without the systemic features of neurofibromatosis 1 have been reported in literature. 
Oculocutaneous albinism is associated with syndromes such as Prader willi syndrome, Angelmann syndrome, Hermansky Pudlack syndrome and Chediak-Higashi syndrome.  Oculocutaneous albinism has also been associated with other ocular disorders like Axenfield's anomaly. 
A very rare case has been reported showing the genetic associations between partial albinism and neurofibromatosis in two daughters of a family along with Axenfield's defect, congenital deafness and peroneal muscular dystrophy. 
However, isolated orbital plexiform neurofibroma in association with albinism has not been reported so far. This rare case is reported for the coincidental presentation of oculocutaneous albinism and isolated orbital plexiform neurofibroma without any systemic features of neurofibromatosis 1 in the same patient and probably the first case to be reported.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]