Article type :
Case Report
Author :
Rajendra P Maurya, Ishan yadav, Virendra P. Singh, Mahendra K. Singh, Mohan Kumar
Volume :
1
Issue :
1
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.