Giant pedunculated neurofibroma of the thigh with apical ulceration in a patient with neurofibromatosis type 1: a case report and review of operative management

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder arising from mutations in the NF1 tumour-suppressor gene on chromosome 17q11.2. It is characterised by café-au-lait macules, axillary freckling, Lisch nodules, and the development of multiple cutaneous and plexiform neurofibromas. Giant solitary pedunculated neurofibromas are a rare and functionally disabling manifestation, particularly when complicated by secondary ulceration, which carries a risk of infection and raises concern regarding malignant transformation. A 56-year-old woman with NF1 presented to the outpatient surgical clinic with a large, pedunculated soft-tissue mass over the upper lateral left thigh that had progressively enlarged over many years and had recently developed an ulcer at its apex with intermittent serous discharge. Following thorough pre-operative workup-including magnetic resonance imaging (MRI) of the thigh, ultrasound-guided fine-needle aspiration cytology (FNAC), and cardiorespiratory assessment-the patient underwent elective surgical excision under general anaesthesia. Histopathological examination confirmed a benign peripheral nerve sheath tumour consistent with neurofibroma. Surgical excision remains the definitive treatment for large, symptomatic or ulcerated neurofibromas. Careful pre-operative imaging and meticulous dissection are essential to achieve complete resection whilst avoiding neurovascular injury. Lifelong multidisciplinary surveillance is mandatory given the systemic nature of NF1 and the risk of malignant peripheral nerve sheath tumour (MPNST) transformation.