| Literature DB >> 31741938 |
Debangshu Ghosh1,2, Jayanta Saha3, Shaswati Sengupta1, Ajay Manickam4, Sumit Kumar Basu1.
Abstract
Type 1 Neurofibromatosis (NF1) is a rare autosomal dominant genetic disorder. There are seven clinical features of which two are necessary to diagnose it. Another important feature is plexiform neurofibroma which commonly presents as painful expansile lesion. Here we present a case of NF1 with huge swelling of left hemiface and chin following trauma over pre-existing swelling and presented as life threatening emergency and managed surgically. © Association of Otolaryngologists of India 2017.Entities:
Keywords: Café-au-lait spot; Neurofibromatosis type 1; Plexiform neurofibroma; Swelling; Trauma
Year: 2017 PMID: 31741938 PMCID: PMC6848417 DOI: 10.1007/s12070-017-1092-7
Source DB: PubMed Journal: Indian J Otolaryngol Head Neck Surg ISSN: 2231-3796