Orbitotemporal Neurofibromatosis Research Articles

Clinical and radiological features of orbito-temporal neurofibromatosis

Neurofibromatosis- 1 (NF- 1) is an autosomal dominant condition belonging to the well-known group of neurocutaneous syndromes. It affects 1 in 3500 persons. It is caused by a mutation in the neurofibromin gene localized to chromosome 17q11.2. which codes for a protein involved in the normal cell cycle regulation. Therefore NF-1 gene mutations predispose the individual to various benign and malignant tumors. The diagnosis of NF-1 remains largely clinical, given its characteristic lesions. Here we describe one such case with hallmark lesions of NF-1. A 12-year-old boy presented with a slow-growing and progressive right upper lid mass causing severe drooping, vision impairment and facial disfiguration. On detailed ophthalmic examination he was found to have severe ptosis, Lisch nodules and keratoconus. A systemic examination revealed café au lait spots and axillary freckling. Radiological imaging showed sphenoid wing dysplasia, encephalocele and optic pathway glioma. The patient was taken up for debulking surgery and a referral to the neurosurgery department was sent. He has been on follow up for last 12 months. This case first presented to an ophthalmology clinic and thus, as an ophthalmologist, keeping in mind the associated intraorbital and intracranial pathology can be life-saving. A multidisciplinary approach is needed in the management of such severe cases of NF-1.

Clinical features and surgical management of orbitotemporal neurofibromatosis

Objective: To report the clinical features and surgical treatment of orbitotemporal neurofibromatosis. Methods: It was a retrospective case series study. The clinical records of 24 patients who were treated for orbitotemporal neurofibromatosis between April 2007 and July 2017 at Beijing Tongren Hospital, Capital Medical University were analyzed. Data collected included sex, age, laterality, periorbital deformities, surgical treatment, follow-up time, complication and recurrence. Results: Sixteen males and 8 females were included. Age at surgery was (15±7) years (4-30 years). All patients were unilaterally involved. Twenty-three patients (96%) had upper lid involvement and ptosis. Nine patients (38%) had lower lid involvement. Fourteen patients (58%) had lateral canthal disinsertion. Three patients (13%) had brow involvement, 10 patients (42%) had conjunctival involvement and 2 patients (8%) had lacrimal gland infiltration. All patients had tumor debulking procedure. Twenty-two patients (92%) had correction of ptosis. Fourteen patients (58%) required lid reconstruction and lateral canthus reattachment surgery. Three patients (13%) had correction of brow ptosis.One patient (4%) had skull and orbit reconstruction. The median follow-up time was 3.5 (1.0-10.0) years. All patients had improved appearance. Ptosis recurred in 6 patients, but were corrected with surgery. On the last follow-up, 7 patients were free of ptosis. In 14 patients, mild ptosis was noted, but the upper lid did not cover the pupil. In 2 patients the pupil was half covered. Only in 1 patient who had not received ptosis correction surgery the pupil was covered completely. Conclusions: The periorbital deformities of orbitotemporal neurofibromatosis include upper eyelid infiltration with ptosis, lateral canthal disinsertion and infiltration of lower eyelid, brow, conjunctiva and lacrimal gland. The appearance of patients with orbitotemporal neurofibromatosis can be significantly improved through oculoplastic surgery. (Chin J Ophthalmol, 2019, 55: 828-833).

A combined one-stage surgical approach of orbital tumor debulking, lid reconstruction, and ptosis repair in children with orbitotemporal neurofibromatosis

To describe a series of children with neurofibromatosis type 1 (NF1) and a plexiform neurofibroma of the orbit with ptosis who underwent a combined one-stage surgery for tumor debulking, lid reconstruction, and ptosis repair. A retrospective review of 6 cases of combined one-step surgeries for orbital plexiform neurofibroma with ptosis. The study included 6 children (4 boys, mean age 3.4 years). Follow-up time was at least 9 months. All children had unilateral orbitofacial plexiform. All children underwent a combined one-stage surgery performed by a single surgeon for tumor debulking, lid reconstruction, and ptosis repair. There was significant improvement in upper lid height and lid contour postoperatively in all the patients. One patient had early recurrence and underwent another two surgeries in the following years. A combined surgical approach for orbital involvement in NF1 results in favorable immediate results, though late recurrence may require additional surgical interventions in the future.

Childhood orbitotemporal neurofibromatosis with congenital glaucoma – A clinical and neuroradiological report

In infants with unilateral congenital glaucoma, orbitotemporal neurofibromatosis should be included in the differential diagnosis. We present an unusual case of neurofibromatosis type-1 with unilateral congenital glaucoma, buphthalmos and spheno-orbital dysplasia. The neuroimaging features are discussed. Presence of all the syndromic features at 6 months of life have rarely been described in the literature.

Surgical care burden in orbito-temporal neurofibromatosis: Multiple procedures and surgical care duration analysis in 47 consecutive adult patients.

Patients with orbito-temporal neurofibromatosis (OTNF) bear a heavy burden of surgical care. We studied 47 consecutive patients with OTNF from the French Neurofibromatosis 1 Referral Center cohort (n > 900), over a 15-year period to determine the clinical features most likely to predict repeat surgery and longer duration of surgical care. Forty-seven patients (5.2% of the NF1 patients' cohort) underwent 79 procedures with a 4.8 years average follow-up. Soft-tissue surgery had a high revision rate (19/45 patients), skeletal surgery did not (2/13 patients). Transosseous wire canthopexy and facial aesthetic unit remodeling were associated with stable outcome. Ptosis repair carried an unfavorable outcome, particularly in the presence of sphenoid dysplasia. Stable skeletal remodeling was achieved with polyethylene implants and/or cementoplasty. Multiple procedures were undertaken in 70% of patients and were predicted by the NF volume, canthopexy, skeletal dysplasia, or a Jackson's classification 2 and/or 3; but not by declining visual acuity. A classification based upon predictive risk of repeated procedures is proposed: Group 1: Isolated soft tissue infiltration not requiring levator palpebrae or canthal surgery; Group 2: Soft tissue involvement requiring ptosis repair or canthopexy, or NF great axis over 4.5 cm; Group 3: Presence of sphenoid dysplasia with pulsatile proptosis, regardless of visual acuity.

Blepharoplasty techniques in the management of orbito-temporal neurofibromatosis

We aimed to present blepharoplasty techniques we used for severe orbito-temporal neurofibromatosis (NF). A retrospective noncomparative single-center case study was undertaken on patients with orbito-temporal NF. Twenty-two patients with orbito-temporal NF treated at the Department of Ophthalmology of Shanghai Ninth People's Hospital between 2007 and 2011 participated in the study. They underwent a standard ophthalmologic assessment for orbito-temporal NF involving both the orbito-temporal soft tissue and bony orbits. The orbits were examined with three-dimensional computed tomography (CT) and all 22 patients underwent tumor debulking, blepharoplasty, and orbital reconstruction. We modified the conventional procedures. Our reconstructive techniques included eyelid reduction; lateral canthal reattachment; for patients with collapse of the lateral orbital margin, reconstruction of the orbital margin to be performed before reattaching the lateral canthus to the implanted titanium mesh; anterior levator resection; and frontalis suspension according to preoperative levator muscle function. Visual acuity, tumor recurrence, and postoperative palpebral fissure and orbital appearance were evaluated to assess outcomes. Acceptable cosmetic results were obtained in 22 patients after debulking of the orbito-temporal NF and surgical reconstruction. There was no loss of vision or visual impairment postoperatively. All patients did not display recrudescence after a follow-up period of >1 year. Three patients with residual ptosis were successfully treated with a second ptosis repair. We believe that the blepharoplasty techniques described in the treatment of orbito-palpebral NF may provide both functional and esthetic benefits.

Labial Neurofibroma as the Presenting Feature of Genital and Orbitotemporal Neurofibromatosis

To the Editor: Neurofibromatosis(NF)type-1isanautosomaldominant neurocutaneous disorder (17q11.2 defect; 1:3,000–4,000births),characterizedbyperipheralnervesheathtumors(neurofibromas),cafe-au-laitspots,intertriginousfrecklesandLischnodules[1].GenitalNFisextremelyrare,clitoromegalybeing the most common type, and is often confused withhyperandrogenic disorders resulting in unnecessary evalua-tions [1, 2]. Neurofibromas involving the orbital, temporalandfacialregionsareknownasorbitotemporalneurofibroma-tosis (OTNF) and are also rare (<1 %) [3].A 13-y-girl presented with concerns of genital asymmetrydue to labial swelling. Sexual maturity rating was B2 breastswith absent pubic or axillary hair. There was a palpable mass3×2 cm in the left labia majora (Fig. 1). Clitoromegaly wasabsent (clitoral index 28 mm

Long‐term visual outcomes in patients with orbitotemporal neurofibromatosis

The study aimed to review the presentation and long-term visual outcomes of patients with orbitotemporal neurofibromatosis. Retrospective case series. Patients with orbitotemporal neurofibromatosis presenting from 1981 to 2009. Demographic data, examination findings, causes of vision impairment and interventions performed were recorded for each patient from presentation through subsequent follow-up encounters. Visual impairment was defined as an ipsilateral Snellen acuity of <6/12. The proportion of patients with visual impairment or enucleation, the rate of new vision loss during follow up; and causes for vision loss or enucleation. Thirty-seven patients (17 female) were included. Median presenting age was 15 years (range 2-45) with an average follow up of 7.4 years (range 0.5-20.3). Visual impairment occurred in 54% of patients at presentation. Causes were amblyopia (13 of 37), optic atrophy (4 of 37), previous enucleation/evisceration (2 of 37), and optic nerve glioma (1 of 37). At presentation, 76% of patients had ptosis, and 51% had strabismus. Thirty-one patients had surgery, with an average of two procedures per patient. At final follow up, 62% had visual impairment. The rate of visual decline was 2% per patient-years. Causes of visual decline were two patients with optic nerve atrophy, one with exposure keratitis and one whose cause was unknown. Five blind patients had enucleation. The first series of orbitotemporal neurofibromatosis to focus on visual outcomes was presented. Vision loss is common, with a high prevalence of amblyopia. Close monitoring from an early age is needed to prevent visual impairment.

Soft Tissue Management of Orbitotemporal Neurofibromatosis

The aim of this study was to provide an overview of a single-institution, 30-year surgical experience with the soft tissue management of orbitotemporal neurofibromatosis. Lessons learned are highlighted in case presentations. From 1981 to 2011, all patients who presented to the Chang Gung Memorial Hospital Craniofacial Center with craniofacial neurofibromatosis and orbitotemporal involvement were retrospectively reviewed. The medical records of those patients who underwent surgical correction were reviewed for age, extent of involvement, procedures performed, histologic confirmation, and acute complications. All patients were grouped according to the Jackson Classification. The electronic photobank was queried to evaluate results. Thirty-five patients presented to our center with orbitotemporal neurofibromatosis during the study period. Thirty-one patients underwent surgical management of their disease. The average age was 25 years (range 4 to 57 years). Over half of our patients (n = 18) presented with concomitant disease of the cheek. The 2 most common procedures performed were lateral canthopexy (n = 24) and upper eyelid excision (n = 24). The only acute complication recorded was a postoperative hematoma on the fourth postoperative day following simultaneous lateral canthopexy and upper eyelid excision which required operative evacuation. In orbitotemporal neurofibromatosis, tissue hyperextensibility and tumor weight adversely affect outcomes. Treatment of concomitant disease of the cheek should be prioritized in order to provide periorbital support prior to addressing the delicate structures of the eyelids. Preservation of the lateral canthal unit and levator muscle, despite neurofibroma infiltration, is critical to maximize outcomes following debulking procedures of the eyelid and orbit.

Childhood Orbitotemporal Neurofibromatosis Masked by Congenital Glaucoma and Buphthalmos

In newborns with unilateral buphthalmos and presumed congenital glaucoma, the differential diagnosis should include the rare condition of orbitotemporal neurofibromatosis. The authors present the diagnostic challenge of an unusual case of neurofibromatosis type 1 with unilateral congenital glaucoma, buphthalmos, and sphenoid-orbital dysplasia. The accompanying type of osseous orbital dysplasia has rarely been described in the literature, complicating the diagnostic and management process.

Reply re: “Management of Facial Disfigurement in Orbitotemporal Neurofibromatosis”

Correspondence: Rana Altan-Yaycioglu, M.D., F.E.B.O., Department of Ophthalmology, Faculty of Medicine, Baskent University, Dadaloglu Mah. 39 Sok. No: 6, 01250 Yuregir, Adana, Turkey ([email protected])

Clinical Features and Surgical Management of Orbitotemporal Neurofibromatosis: A Retrospective Interventional Case Series

Purpose: To evaluate the clinical features and surgical preferences of patients with neurofibromatosis.Methods: Histologically confirmed neurofibromatosis cases that underwent surgery during a 15-year period were retrospectively evaluated. The patients’ demographics, severity of periorbital involvement, aim of surgery, surgery types, postoperative outcome, and complications were recorded.Results Nineteen patients with a mean age of 24.7 ± 21.2 years were included in the study. Nine were younger and 10 were older than 16 years. Seventeen patients had unilateral and two had bilateral involvement. Patients were followed for a mean of 5.8 ± 5.7 years. A total of 35 surgeries were performed. In 22 times the surgery was performed to improve vision, and in others to get a cosmetically acceptable appearance. Although there was an improvement in visual acuity, the difference was not significant (P = 0.085). Debulking of the tumor was performed in 100%, ptosis surgery in 90%, and lateral canthal fixation in 50% of surgeries. All patients showed improvement: at the last examination, six eyes had no ptosis, in 13 eyes ptosis not covering the pupil in primary gaze was observed on the involved side, and in only one eye the pupil was half covered.Conclusion In neurofibromatosis the treatment should be customized to each patient. As confirmed in our study, an open visual axis is the main goal in surgery, followed by cosmetic appearance. The authors believe that, with possibly multiple surgeries an acceptable result can be achieved.

Orbitofacial Rejuvenation of Temple Hollowing With Perlane Injectable Filler

Temple hollowing with soft tissue volume loss is well recognized in HIV lipoatrophy. Similar changes occur as part of aging, with skeletalization of the orbital rim and clipping of the eyebrow tail. The authors report their initial experience treating temple volume loss and orbitofacial asymmetry with nonanimal stabilized hyaluronic acid (NASHA). This study was a retrospective, interventional case series with a patient satisfaction questionnaire and independent physician grading of results. Patients initially received approximately 1 mL of Perlane (Q-Med, Uppsala, Sweden; Medicis, Inc., Scottsdale, Arizona) injected into the superficial fascia of each temple. The filler was placed behind the frontozygomatic process to soften the bony contour of the lateral orbital rim. Outcome measures included satisfaction with injection procedure, fulfillment of expectations, satisfaction with appearance, change in self-confidence, the need for retreatment, and complications. Twenty patients were treated, for a total of 39 temples. Mean follow-up was nine months (range, four to 14 months). Patients were primarily female (90%), all were Caucasian, and their ages ranged from 20 to 60 years. Eighteen patients had age-related temple hollowing, one had dysthyroid volume loss, and one had hollowing due to orbitotemporal neurofibromatosis. The majority had 1-mL injections to each side (range, 0.3-3 mL). One patient received 3 mL to correct asymmetry. The procedure was well tolerated with ice pack cooling and no local anesthesia. Of 16 patients who replied to the questionnaire, 13 were very or moderately satisfied and requested repeat treatment, whereas three were only mildly satisfied or ambivalent. Side effects included transient mild or moderate discomfort, superficial vein prominence, and localized bruising. This series suggests the effective and safe application of Perlane in temple hollow rejuvenation and correction of asymmetry. It offers tolerability, high patient satisfaction, few complications, and the option of reversibility.

Orbitotemporal Neurofibromatosis: Classification and Treatment

Purpose: To review the clinical findings in orbitotemporal neurofibromatosis and discuss treatment options. Clinical features, histopathologic characteristics, and treatment options are reviewed. Methods: A Medline literature search from 1966 to 2004 was performed, using the key words: orbitotemporal neurofibromatosis, orbitopalpebral neurofibromatosis, orbitofacial neurofibromatosis, cranio-orbital neurofibromatosis, and cranio-orbital-temporal neurofibromatosis, and the pertinent literature was reviewed. Additionally, our experience with two patients is reported. The surgical procedures are discussed. Conclusion: The management of orbitotemporal neurofibromatosis is challenging. The planned surgical approach and extent of resection depend on the severity of the orbital soft tissue and bony involvement and on the visual potential. Ultimately, orbital exenteration may be needed for rehabilitation and cosmesis.

Orbitotemporal neurofibromatosis: Clinical features and surgical management

Purpose To classify the periorbital deformities of adult orbitotemporal neurofibromatosis (NF) and describe new clinical findings, and to recommend guidelines for surgical treatment and management of surgical complications. Design Retrospective noncomparative case series. Participants Thirty-three patients over age 16 with orbitotemporal NF. Methods Retrospective surgical case record and serial photographic review recording the laterality and the severity of periorbital involvement, the presence of complications from previous surgery, the surgical techniques undertaken, and the surgical outcome and complications. Main outcome measures Comparison of preoperative and postoperative level of deformities. Results New classification of periorbital deformities: (1) brow ptosis, (2) upper lid infiltration with ptosis, (3) lower lid infiltration, (4) lateral canthal disinsertion, and (5) conjunctival and lacrimal gland infiltration. Two patients had bilateral and 31 patients (94%) had unilateral orbitotemporal NF. All patients had upper and 19 patients (58%) had lower lid involvement. Six (18%) patients had significant brow infiltration. Fourteen (42%) patients had a dropped lateral canthus requiring surgical reattachment, 28 (85%) required anterior levator resection for ptosis, and 28 (85%) had lid-debulking surgery. New findings included severe brow infiltration, lacrimal gland involvement, and functional nasolacrimal duct obstruction. Complications from previous surgery included residual ptosis, ptosis overcorrection, poor lid contour, dry eye, corneal exposure, and upper and lower lid entropion/ectropion. Conclusions The periorbital appearance and comfort of patients with NF type 1 who have orbitotemporal NF can be significantly improved through oculoplastic surgery.

The surgical management of childhood orbito-temporal neurofibromatosis

Purpose. (1) To describe the natural history, changing manifestations and new signs of orbito-temporal neurofibromatosis (NF) during childhood and puberty. (2) To describe the surgical treatment and recommend guidelines for management of this condition in children compared to adults. Methods. Retrospective case note and serial photographic review Results. There were 9 patients (5M, 4F) with orbito-temporal NF who were children (<16 years) at the time of first presentation with a minimum of 5 years follow up. All the patients had unilateral periorbital neurofibromatosis with blepharoptosis, orbital enlargement and hypoglobus. All nine patients underwent blepharoptosis surgery. Eight patients underwent neurofibroma debulking (and lid shortening) and lateral canthal reattachment. Three had enucleation of their blind eyes. Seven patients had two or more operations for their orbito-palpebral deformities. New signs included conjunctival and lacrimal gland infiltration with a secondary dry eye. Conclusion. Blepharoptosis surgery is indicated if the visual axis is compromised and there is a chance of limiting amblyopia. Definitive surgery for appearance is best delayed until the age of 18 years, or when the disease progression has stabilised, unless there are compelling social reasons for earlier surgery.

Orbitotemporal neurofibromatosis: classification and treatment.

In localized orbitotemporal neurofibromatosis, the treatment depends very much on the type and severity of the orbital involvement and on the functional state of the eye. The condition can be conveniently divided into three groups, each requiring different treatment: (1) orbital soft-tissue involvement with a seeing eye, (2) orbital soft-tissue and significant bony involvement with a seeing eye, and (3) orbital soft-tissue and significant bony involvement with a blind or absent eye. A total of 24 patients with a maximum of 12 years recurrence-free follow-up are presented.