Haiyan Qin; Wanying Chen; Jiao Kong; Feifei Chen;Xiaoqiang Wen; Zhuonan Li & Lianbo Zhang

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant neurogenetic disease with variable clinical manifestations, which are primarily manifested as neurofibromas, café-au-lait macules (CALMs) and skeletal deformities. Although generally benign, expansile neurofibromas that are characteristic of NF1 readily lead to disturbing deformities. It is often difficult to surgically extirpate a tumor that involves these important tissues or organs. We report a rare case of a patient with neurofibromatosis Type 1. The patient presented with a congenital giant scalp neurofibroma and CALMs in the occipito-cervical region, in addition to ear and occipital deformities. We performed a challenging surgical intervention (a near-total resection) to reduce the tumor burden and rehabilitate the appearance and function of the patient while preserving the intracranial tissue structure. Here, we review this case and analyze the clinical manifestations, diagnosis and management of NF1.

KEY WORDS: Neurofibromatosis Type 1; Occipital bone defect; Ear deformity; Surgical treatment.

QIN, H.; CHEN, W.; KONG, J.; CHEN, F.;WEN, X.; LI, Z. & ZHANG, L. Surgical treatment of a massive neurofibroma of the head and neck in a patient with neurofibromatosis Type 1: A case report. Int. J. Morphol., 36(1):194-200, 2018.