A case report and review of the literature on Von Recklinghausen’s disease complicated with cervicofacial plexiform neurofibromas

Abstract

Neurofibromatosis type I, also known as Von Recklinghausen disease, is an autosomal dominant genodermatosis caused by a mutation in the NF1 gene on chromosome 17q11.2. It is characterized by a wide range of clinical signs and symptoms comprising macules of café-au-lait and tumours of the nerve sheath [1]. Neurofibromas make up 90% of all instances and plexiform tumors are less common [2]. Plexiform neurofibromas are largely pathognomonic for NF1, appearing as a “bag of worms” with diffuse involvement along a nerve segment and its branches [3]. The eyelids, trunk, and limbs are the most common sites for plexiform neurofibromas. It’s unusual to find localization in the cervico-facial region [4]. We present the case of a 20-year-old female patient who had been followed for von Recklinghausen’s disease from childhood and complained of a growing cervicofacial lump.