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.

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