Indian Journal of Clinical and Experimental Ophthalmology
Open Access
  • Year: 2015
  • Volume: 1
  • Issue: 1

Oculo-cutaneous manifestations of neurofibromatosis type – I: a case report

  • Author:
  • Rajendra P Maurya1,, Ishan Yadav1, Virendra P. Singh1, Mahendra K. Singh1,2, Mohan Kumar
  • Total Page Count: 5
  • Page Number: 41 to 45

1Department of Ophthalmology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, Uttar Pradesh, India

2Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, Uttar Pradesh, India

*Corresponding Author: E-mail: editor.ijceo@gmail.com

Online published on 13 May, 2015.

Abstract

Neurofibromatosis (NF) is one of the most common genetic disorders with variable expression. It is characterized by neuroectodermal tumors arising within multiple organs.

We report an interesting case of 14 year old girl who presented with swelling and mild mechanical ptosis of right eye upper lid which was associated with multiple cutaneous abnormalities and fibromatosis of external genitalia. Complete excision of lid mass was done and histopathological examination revealed neurofibromatosis type I.

The clinical manifestations, diagnosis, treatment and complications of neurofibromatosis are discussed.

Keywords

Café-au-lait spot, Lich's nodule, Neurofibromatosis type-I, von Recklinghausens's disease