Association Between Severe Vernal Keratoconjunctivitis And Neurofibromatosis Type 1: A Case Report

The purpose of this case report is to describe a rare combination between severe vernal keratoconjunctivitis (VKC) with corneal involvement and Lisch nodules which are pathognomonic markers of Recklinghausenneurofibromatosis. The case reflects the decision-making process used in the diagnosis and treatment. This case also highlights the importance of obtaining a complete, accurate, precise, and relevant database during the examination. Furthermore, vernal keratoconjunctovitis can be incapacitating, and potentially sightthreatening. And, complications of neurofibromatosis type 1 include Optic nerve gliomas. Therefore, it is to be able to accurately diagnose and treat these two conditions reported simultaneously in this patient. 

 

It is a case that presented in the emergency department of ophtalmology with intense itching, redness, and watering eyes, blepharospasm, and photophobia. Clinical signs were in favor of a severe vernal keratoconjunctivitis with corneal involvement. The systematic examination of the patients skin found café-au lait spots in the face and trunk and bilteral Lisch nodules in the iris pathognomonic of neurofibromatosis type 1. 

it is a descriptive case report of a rare combination between two pathologies: vernal keratoconjunctivitis and neurofibromatisis type 1 (with lisch nodules). In this case report we describe the clinical diagnosis, the paraclinical evaluation (corneal topography that shoxed showed abnormal corneal topography patterns, MRI)  and the management of these two affections.

A ten year old boy presented with intense itching, redness, and watering eyes, blepharospasm, and photophobia. Visual acuity was 3/10 for the right eye and 10/10 for the left eye. The boy presented with 6 café-au-lait spots. The slit lamp examination found giant papillae on the upper tarsal conjunctiva with a cobblestone appearance. The cornea was involved with a shield ulcer. Iris examination revealed 3 light brown spots on the right iris and four on the left iris. The rest of the slit lampp examination was normal. The treatment of VKC required lantihistamines, mast cell stabilizers, corticosteroids (topical and supratarsal injection). And for the neurofibromatosis an MRI was requested and the patient was sent to the pediatrician. 

Vernal keratoconjunctivitis and neurofibromatosis are two distinct pathologies. On one hand vernal keratoconjunctivitis can be uncomfortable, incapacitating, and potentially sight-threatening especially when the cornea is involved by shield ulcers and vernal plaques, keratoconus, corneal scarring, microbial keratitis, and limbal epithelial stem cell deficiency. On the other hand Neurofibromatosis type 1 is an unpredictable disorder, it varies widely in severity and can lead to severe complications such as optic gliomas. Due to the severity of these two affections the role of the ophtalmologist is important in the early diagnosis to start the treatment and avoid further complications.