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Year : 2021  |  Volume : 10  |  Issue : 1  |  Page : 83-86

A woman with oculocutaneous manifestation of neurofibromatosis type 1: A rare case report

Department of Ophthalmology, Assam Medical College, Dibrugarh, Assam, India

Date of Submission08-Jul-2020
Date of Decision10-Sep-2020
Date of Acceptance30-Oct-2020
Date of Web Publication2-Feb-2021

Correspondence Address:
Sunanda Nandi
Department of Ophthalmology, Assam Medical College, Dibrugarh, Assam
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijhas.IJHAS_82_20

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Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are very rare with Lisch nodules, plexiform neurofibroma, and optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life-threatening malignancies in few patients, which may arise in the different phases of life. Here, we present the case of a 45-year-old woman with NF-1 presenting with rare ocular features along with systemic manifestation of the disease.

Keywords: lisch nodules, maculopathy, neurofibromatosis, ophthalmic

How to cite this article:
Nandi S, Kuli JJ. A woman with oculocutaneous manifestation of neurofibromatosis type 1: A rare case report. Int J Health Allied Sci 2021;10:83-6

How to cite this URL:
Nandi S, Kuli JJ. A woman with oculocutaneous manifestation of neurofibromatosis type 1: A rare case report. Int J Health Allied Sci [serial online] 2021 [cited 2023 Oct 1];10:83-6. Available from: https://www.ijhas.in/text.asp?2021/10/1/83/308591

  Introduction Top

Neurofibromatosis (NF) has been reported from all parts of the world and has no racial or sexual preponderance.[1] NF type I (NF-1) is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF-1 and orbital–facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation.

Diagnosis is usually performed clinically and is based on specific diagnostic criteria. Many clinical features of NF1 are age dependent, and diagnosis is occasionally more challenging in the pediatric population.[2] The present communication deals with ophthalmic and systemic evaluation of a case of NF-1, with a special emphasis on the incidence of Lisch nodules and maculopathy.

  Case Report Top

A 45 year old women presented with a history of small nodules over temple since her childhood which was gradually increasing in size and causing disfigurement of the face associated with blurring of vision in the left eye. On ophthalmological examination her visual acuity of right eye was 6/18 and left eye was 6/36. Numerous nodular lesions ranging from 1 mm to 2 mm were also noticed in the patient's face [Figure 1]. Intraocular pressure was 16 mmHg and 18 mmHg in the right and left eyes, respectively.
Figure 1: The patient presenting in the outpatient department

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The results of the physical and ophthalmologic examination are as follows:

Physical examination revealed more than 20 different sizes of café-au-lait spots [Figure 2] throughout the body, sizes varying from 2 mm to >7 mm over the trunks and limbs, especially on the face and back region. There was evidence of freckles in the axillary and inguinal region with the presence of several soft cutaneous sessile neurofibromas varying from few millimeters to several centimeters in diameters which were present along the trunk, limbs, and neck region and especially on the face.
Figure 2: The patient's back with nodular lesion

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[Figure 2] shows a scattered nodular lesion on the skin that is darker than the surrounding area, and “cafe-au-lait” spots are also visible on the back.

Laboratory investigations such as sedimentation rate, white blood cell count, red blood cell count, hemoglobin and hematocrit, platelet count, fasting blood glucose, coagulation profile, ultrasonography whole abdomen, chest X-ray, Mantoux test, rheumatoid factor, and antinuclear antibody were within normal limits.

Slit-lamp examination

  • Lacrimal system: Normal anatomy and contours. Conjunctiva/sclera: White and quiet. Cornea: Clear
  • Anterior chamber: Normal
  • Iris: dome-shaped brown elevations projecting from the surface of the iris (multiple Lisch nodules) bilaterally. Pupillary reactions: Normal. Color vision: Normal; the anterior chamber was within normal limits in both eyes, without neovascularization
  • Both eyes with Lisch nodules [Figure 3].
Figure 3: Lisch nodules

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Fundus examination

Fundus examination revealed no abnormality in the right eye, however, the media was hazy in the left eye. The fundus photograph [Figure 4] revealed a macular scar in the left eye along with the evidence of old chorioretinitis in the same. There were no retinal breaks or retinal detachment seen bilaterally.
Figure 4: Fundus photography

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Computed tomography and magnetic resonance imaging brain were ordered to rule out optic glioma, meningioma, acoustic neuroma, and schwannoma, and it did not show any abnormal feature. Sphenoid wing dysplasia was also not present, as shown in [Figure 5].
Figure 5: Computed tomography scan picture

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Based on clinical features, the diagnosis of NF-1 was made. Topical and systemic steroids were given for the chorioretinitis, and the patient is in follow-up with no significant improvement or deterioration of vision in the past 6 months.

  Discussion Top

NF is the most common neurocutaneous syndrome which involves the skin and central nervous system. It is inherited in an autosomal dominant fashion affecting 1 out of 3000 persons caused due to mutations of NF-1 gene in chromosome region 17q11.2, encoding neurofibromin protein.[1],[2]

NF-1 diagnosis is based on the presence of at least two of the seven criteria which include: six or more cafe-au-lait macules over 5 mm in greatest diameter in prepubertal individuals, freckles over the axillary and inguinal area, Lisch nodules over the iris, two or more neurofibroma or one plexiform neurofibroma (sphenoid dysplasia), optic glioma, and first-degree relative with NF-1.[3] Our case met with three or more criteria and hence it can be clinically diagnosed as a case of NF-1.

The ophthalmological features with NF-1 were studied in 72 consecutive patients with NF-1 in a study, and it was found that the ophthalmological features are relatively rare.[4] NF-1 presenting with ophthalmic associations such as eyelid plexiform neurofibroma, optic glioma, and primary congenital glaucoma have been described in the literature.[5],[6],[7] Choroidal nodules, vasoproliferative tumors, unusual limbal lesion, and neovascular glaucoma are the other ophthalmic manifestations that have been reported rarely.[8]

Lisch nodules are the most common ophthalmic manifestation of NF-1.[9] They begin to develop in early childhood and are present in over 95% of adults with the disease.[9] In our case, there was evidence of Lisch nodules in both eyes along with other ophthalmic features.

Viola et al.[11] evaluated choroidal abnormalities in NF1 patients using near-infrared reflectance in a large group of patients and found nodules in 82% of patients. The presence of macular scar along with the evidence of chorioretinitis in one eye of the patient is in synchrony with the previous literature.

A distinctive facial appearance in the children with NF-1 was first reported by Kaplan et al [10]. in their case series.These children were having telecanthus, antimongoloid slant of the palpebral fissure, broad nose, and tapering chin. Our case presented with similar features. Therefore, it is important to keep in mind the abnormal facial features during the work-up of a patient with NF-1.

Nystagmus has been reported as the initial presenting sign of chiasmal glioma in young children in a series of 22 patients by Toledano et al.,[12] which was not present in our case.

Debulking of tumor mass is needed in cases of plexiform neurofibroma with NF-1. Ptosis surgery and lateral canthal fixation are the other treatment modalities in cases of plexiform neurofibroma. The clearance of visual axis and cosmetic appearance are the basic goals for surgery.

This case report represents the various clinical manifestations of NF-1 and highlights the importance of ophthalmic examination in such cases as they first presented to the ophthalmologist. As the disease requires a life-long follow-up for the various clinical manifestations which may arise in the different phase of life, the early diagnosis of NF-1 becomes a crucial task for clinicians. A holistic multidisciplinary approach is required to diagnose and treat these patients. This case report provides further knowledge about the clinical features of patients with NF-1 which might be helpful for further understanding about the disease.

  Conclusion Top

To the best of our knowledge, this is one of the rare case reports to be published in the literature of a patient with NF-1 who presented with macular scar and chorioretinitis unilaterally along with the other ophthalmic features. Lisch nodules do not represent a cause of morbidity or disability, but they are diagnostically significant, being one of the principal hallmark manifestations of NF-1.

Since the patients with NF-1 can present with ophthalmic complaints, the ophthalmic evaluation is an essential part of examination. Proper diagnosis and treatment require the understanding about the myriad of manifestations of NF-1.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Zion V. Phakomatosis. In: Duane TD, editor. Clinical Ophthalmology. Vol. No 5, Ch. No 36 (1-3). Philadelphia: Harper and Row; 1983.  Back to cited text no. 1
Schnur RE. Type 1 neurofibromatosis: A genio-oculo-dermatologic update. Ocular Genetics 2012;23:364-72.  Back to cited text no. 2
Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales I. J Med Genet 1989;26:704-11.  Back to cited text no. 3
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-92.  Back to cited text no. 4
Stumpf D, Alksne J, Annegers J. Neurofibromatosis. Conference statement. National institute of health consensus development conference. Arch Neurol 1988;45:575-78.  Back to cited text no. 5
Ruggieri M, Pavone P, Polizzi A, Di Pietro M, Scuderi A, Gabriele A, et al. Ophthalmological manifestations in segmental neurofibromatosis type 1. Br J Ophthalmol. 2004;88:1429-30.  Back to cited text no. 6
Tokraz-Sawinska E, Puchalska-Niedbal L, Lachowicz E, Litwinska J. Plexiform neurofibroma of the upper eyelid and orbit in a patient with von Recklingausen disease–case report. Klein Oczena 2014;116:267-71.  Back to cited text no. 7
Levin MH, Armstrong GT, Broad JH, Zimmerman R, Bilaniuk LT, Feygin T, et al. Risk of optic pathway glioma in children with neurofibromatosis type 1 and optic nerve tortuosity or nerve sheath thickening. Br J Ophthalmol 2016;100:510-4.  Back to cited text no. 8
Li H, Liu T, Chen X, Xie L. A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: A case report. BMC Ophthalmol 2015;15:149.  Back to cited text no. 9
Kaplan P, Rosenblatt B. A distinctive facial appearance in neurofibromatosis von Reckling-hausen. Am J Med Genet 1985;21:463-70.  Back to cited text no. 10
Viola F, Villani E, Natacci F, Selicorni A, Melloni G, Vezzola D, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology 2012;119:369-75.  Back to cited text no. 11
Toledano H, Muhsinoglu O, Luckman J, Goldenberg-Cohen N, Michowiz S. Acquired nys tagmus as the initial presenting sign of chiasmal glioma in young children. Eur J Paediatr Neurol 2015;19:694-700.  Back to cited text no. 12


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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