Plexiform Neurofibromatosis: Our Experience at Rural Setup with Review of Literature

Abstract

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomaldominant condition caused by mutations of the NF1 gene, which is located at chromosome 17. The average life expectancy of patients with NF1 is probably reduced by 10–15 years, and malignancy is the most common cause of death [1]. We present a case of 28 year old female with NF-1 who presented to our OPD with a huge painless swelling over the lower back of four years duration. Patient later noticed multiple swellings over the abdomen and the right arm, which increased gradually in size. Histopathological diagnosis of plexiform neurofibromatosis was made and confirmed. Surgical excision with reconstruction was done.

Keywords: Neurofibromatosis, NF-1 gene, plexiform, swelling, Recklinghausen disease

Cite this Article Keerthi N, Sreeramulu PN, Rakesh N, et al. Plexiform Neurofibromatosis: Our Experience at Rural Setup with Review of Literature. Research and Reviews: Journals of Surgery. 2016; 5(2): 21–23p.