Elephantiasis neuromatosa in Type 1 Neurofibromatosis

Abstract

Type 1 neurofibromatosis (NF-1), or Von Recklinghausen disease, is an autosomal dominant genetic disorder. It is characterized by the presence of multiple neurofibromas. Herein, we reported an interesting case of a particularly aggressive neurofibroma that resulted in lower extremity gigantism; this form of plexiform neurofibromas, called elephantiasis neuromatosa (EN) is rarely described. It usually affects the lower limbs and can be complicated by intractable pain and multiple ulcers. KeywordsNeurofibromatosis, Neurofibromas, Elephantiasis neuromatosa, Genodermatoses, Genetic skin diseases