Indian Journal of Clinical and Experimental Ophthalmology


OCULO-CUTANEOUS MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE – I: A CASE REPORT


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Author Details: Rajendra P Maurya, Ishan yadav, Virendra P. Singh, Mahendra K. Singh, Mohan Kumar

Volume : 1

Issue : 1

Online ISSN : 2395-1451

Print ISSN : 2395-1443

Article First Page : 41

Article End Page : 45


Abstract

Background: Neurofibromatosis (NF) is one of the most common genetic disorders with variable expression. It is characterized by neuroectodermal tumors arising within multiple organs.
Case Report: 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.
Conclusions: The clinical manifestations, diagnosis, treatment and complications of neurofibromatosis are discussed.

Key Words: Café-au-lait spot, Lich’s nodule, Neurofibromatosis type-I, von Recklinghausens’s disease.