Oculo-cutaneous manifestations of neurofibromatosis type – I: a case report Maurya Rajendra P1,*, Assistant Professor, Yadav Ishan1, Senior Resident, Singh Virendra P.1, Professor, Singh Mahendra K.1,2, Professor, Kumar Mohan 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 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. Top Keywords Café-au-lait spot, Lich's nodule, Neurofibromatosis type-I, von Recklinghausens's disease. Top |