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Year : 2023  |  Volume : 3  |  Issue : 1  |  Page : 151-153

A novel approach to the management of severe facial disfigurement in neurofibromatosis type 1

Department of Orbit and Oculoplasty, Aravind Eye Hospital, Coimbatore, Tamil Nadu, India

Date of Submission28-Jun-2022
Date of Acceptance28-Oct-2022
Date of Web Publication20-Jan-2023

Correspondence Address:
Viji Rangarajan
Avinashi Road, Civil Aerodrome Post, Sitra, Coimbatore - 641 014, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1556_22

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To report a case series on the management of eight patients with complex orbitopalpebral neurofibromatosis that is inadequately addressed in the literature. All patients were managed surgically with full-thickness, transverse, or transverse-oblique resection of the upper eyelid neurofibroma along with canthopexies and ptosis correction. Presenting signs and symptoms include eyelid swelling, ptosis, canthal dystopia, and decreased visual acuity. These challenging cases were treated with a tailored surgical approach which provided functional and esthetic benefit that improved patient's social interaction and confidence.

Keywords: Neurofibromatosis, ptosis, transverse palpebral resection, upper eyelid neurofibroma

How to cite this article:
Rangarajan V, Murugesan S, Ramakrishnan K, Bansal R. A novel approach to the management of severe facial disfigurement in neurofibromatosis type 1. Indian J Ophthalmol Case Rep 2023;3:151-3

How to cite this URL:
Rangarajan V, Murugesan S, Ramakrishnan K, Bansal R. A novel approach to the management of severe facial disfigurement in neurofibromatosis type 1. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jan 26];3:151-3. Available from: https://www.ijoreports.in/text.asp?2023/3/1/151/368151

Orbitopalpebral neurofibromatosis is the most common form of benign peripheral nerve tumor.[1] Neurofibroma presents as a “bag of worms” appearance. The upper eyelid is grossly distorted with subcutaneous replacement of the normal structure by the infiltrating neurofibroma resulting in S-shaped ptosis.[2] The levator action is also compromised; thus rehabilitation of function along with esthetic debulking is required.[3] Surgical excision is usually complicated by excessive bleeding and poor postoperative cosmesis.[4] Repeated debulking is usually necessary.[4]

We report management of eight cases of orbitopalpebral neurofibromatosis. All patients underwent detailed systemic and ophthalmic evaluation including visual acuity, anterior and posterior segment, ptosis and proptosis evaluation, and imaging. Each patient was planned a customized surgical approach depending upon their clinical features.

  Case Reports Top

Case 1

A 13-year-old girl presented with S-shaped ptosis and boggy swelling in the left upper eyelid since childhood. She first underwent left upper eyelid horizontal blepharotomy with levator re-attachment and canthal attachment of both upper and lower tarsal plates to the periosteum. After one month, ptosis correction was done by frontalis sling to achieve both functional and cosmetic results. At three months and four years of follow-up she had clear visual axis and good orbicularis oculi sphincter function [Figure 1].
Figure 1: (a) Preoperative clinical photo of left eye S-shaped ptosis and boggy lid swelling. (b) Postoperative at one-month follow-up after transverse wedge resection with levator reattachment and lateral canthopexy. (c) Post left eye frontalis sling at three-month follow-up

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Case 2

An 11-year-old boy presented with left eye neurofibroma and ptosis with good levator function. He underwent left eye transverse palpebral resection and lateral canthopexy with levator reinsertion. The postoperative results were stable at one year follow-up.

Case 3

A 36-year-old male diagnosed with neurofibromatosis of the left eye had pulsatile proptosis, mechanical ptosis, and lateral canthal dystopia. Magnetic resonance imaging (MRI) of the brain showed herniation of the brain parenchyma through defect in the lateral orbital wall. Left eye transverse lid resection with lateral canthopexy and levator reattachment was done. He maintained a good functional and esthetic result at one-year follow-up [Figure 2].
Figure 2: (a) Preoperative clinical photo with left eye neurofibromatosis. (b) and (c) Post left eye transverse blepharotomy with levator reattachment and lateral canthopexy at one-year follow-up

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Case 4

A 24-year-old male with right upper eyelid neurofibroma had poor marginal apposition. Right eye transverse blepharotomy with levator reattachment and lateral canthoplasty was performed. An acceptable result was noted even at two years of follow-up.

Case 5

A 12-year-old girl presented with left eye ptosis and lateral canthal displacement. Full-thickness, transverse palpebral resection of the left upper eyelid with lateral canthal attachment was done followed by frontalis sling after one month. After five years, she presented with recurrence of ptosis, and repeat frontalis sling was done. At three and six months of this procedure, she had an unimpeded visual axis.

Case 6

An 11-year-old girl with left eye plexiform neurofibroma underwent upper eyelid transverse blepharotomy. At three-year follow-up, there was residual bulky upper eyelid and debulking was done. After one year, she developed ptosis and frontalis sling was performed. She maintained clear visual axis at two years of follow-up.

Case 7

A 29-year-old male was diagnosed with severe neurofibromatosis of the left eye which was operated twice in childhood elsewhere. He had left upper eyelid scar with complete ptosis, hypoplastic tarsus, and lateral canthal dystopia. He underwent left upper lid transverse blepharotomy with levator reinsertion and lower lid lateral canthopexy. At three-month follow-up he had residual upper eyelid mass which was debulked, and frontalis sling was done at the same sitting. The patient maintained a good result with satisfactory elevation of the eyelid at six-month follow-up.

Case 8

A 16-year-old girl presented with right upper eyelid neurofibromatosis and S-shaped ptosis. Transverse blepharotomy of the upper eyelid with levator reattachment was performed. At three- and six-month follow-up, she had good results cosmetically and functionally [Figure 3].
Figure 3: (a) Preoperative clinical photo showing right eye upper lid neurofibromatosis. (b) Postoperative right eye upper lid transverse blepharotomy with levator reattachment at six months follow-up

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  Discussion Top

The surgical approach with management of orbitopalpebral neurofibromatosis depends on the extent of soft tissue and bony involvement and the visual potential. Reconstructive eyelid surgery in a staged manner was planned with contralateral eyelid serving as a model [Figure 4].[4],[6] Transverse palpebral resection of the upper eyelid and lateral canthal attachment of upper and lower tarsal plates to the periosteum were done. In the contralateral normal eyelid, the intended excision area was marked on the skin. Width of the normal palpebral aperture from medial to lateral canthus was measured and marked on both upper and lower lids. Supra-tarsal crease of the normal eye was noted and corresponding distance between supra-tarsal crease and normal lid margin was marked. This formed the lower margin of the intended excision. The distance between supra-tarsal crease and medial, mid, lateral points of the normal eyebrow was noted. This formed the upper margin of the intended xcisionn. Then corresponding markings were made on the diseased lid, and tissues between these two curvilinear lines were excised in a full thickness wedge. Excised upper lid was reconstructed in layers along with lateral canthal attachment of tarsal plate to the periosteum of the lateral orbital rim by lateral canthopexy.[4],[6] Ptosis correction was done depending upon the levator function. Transverse palpebral resection is preferred for volume reduction as it preserves the eyelid margin, and postoperative corneal exposure is rare in this procedure.[3]
Figure 4: (a) Contralateral normal eyelid serves as model, and width of the normal palpebral aperture from medial to lateral canthus is measured. (b) Supra-tarsal crease of the normal eye is noted. Distance between supra-tarsal crease and normal lid margin is marked. This forms the lower margin of intended excision. (c) Three dots—medial, mid, and lateral points—of normal eyebrow are marked. Distance from the supra-tarsal crease to the three dots was noted in the normal eye: it forms the upper margin of the intended excision. (d) Then corresponding markings are made on the diseased lid. (e) and (f) Tissues between these two curvilinear lines are excised in a full-thickness wedge. (g) The excised lid is reconstructed in layers and levator reattachment is done. (h) Immediate postoperative image

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Lee et al.[5] recommended partial excision of the neurofibroma by pentagonal resection of the upper eyelid. It was noted that partial excision was not enough due to bulky lid and there were chances of conjunctival prolapse. Coban-Karatas, et al.[4] suggested a two-staged procedure with transverse palpebral resection followed by frontalis sling for ptosis correction; the postoperative results were satisfactory for up to two years of follow-up. A case series by Marchac et al.[3] stated that transverse wedge resection had more advantages; he noted that the interfascicular dissection of the orbicularis oculi provided minimal denervation damage to the palpebral sphincter. He also stated that in poor Bell's phenomenon, a guarded resection is advised along with lateral canthoplasty.[3],[5]

Ptosis correction in NF1 is challenging because of the heavy infiltration. It is difficult to identify the levator aponeurosis and judge the amount of levator resection. In patients with poor levator function, frontalis sling by Fox pentagon method was done. A satisfactory lid elevation above the pupillary axis was achieved even at long-term follow-ups.

  Conclusion Top

Plexiform neurofibroma diffusely infiltrates the tissues with vascular wide-open capillaries that bleed copiously during surgery and may result in poor cosmesis. The volume of the upper eyelid to be excised is compared with the contralateral uninvolved eyelid. A tailored radical palpebral resection along with ptosis correction can provide both functional and esthetic benefit even in complex neurofibroma, which will improve the patient's confidence and social interaction markedly.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Gaonker CH, Mukherjee A K, Pokle M. Involvement of the eye and orbit in neurofibromatosis type 1. Indian J Ophthalmol 1992;40:2-4.  Back to cited text no. 1
[PUBMED]  [Full text]  
Huson SM: Harper PS, Compton DAS. Von Recklinghausen neurofibromatosis: a clinical and population study in south east Wales. Brain 1988;111:1355-81.  Back to cited text no. 2
Marchac D, Britto JA. Remodelling the upper eyelid in the management of orbitopalpebral neurofibromatosis. Br J Plast Surg 2005;58:944-56.  Back to cited text no. 3
Coban-Karatas M, Altan-Yaycioglu R, Bal N, Akova YA. Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthalmic Plast Reconstr Surg 2010;26:124-6.  Back to cited text no. 4
Lee V, Ragge NK, Collin JR. Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology 2004:111:382-8.  Back to cited text no. 5
Jackson IT, Laws ER, Martin R. The surgical management of orbital neurofibromatosis. Plast Reconstr Surg 1983;71:751-8.  Back to cited text no. 6


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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