Widespread deformation of the tongue in a neurofibromatosis type 1 patient: A case report

Neurofibromatosis type 1 (NF1) is an inherited, autosomal-dominant disorder, also known as von Recklinghausen's disease. This pathology was first described from a series of patients displaying a combination of nervous system tumors and findings such as café-au-lait spots, eye lesions, and bone lesions. Oral mucosal tumors are common in association with NF1, but are relatively rare on the lateral border of the tongue. We describe the case of a 17-year-old boy who presented to the Department of Oral and Maxillofacial Surgery at Tokyo Women's Medical University Hospital with the chief complaint of swelling and pain involving the right lateral border of the tongue. Medical history included NF1 and developmental disorder. Several café-au-lait spots were observed on the back, but cutaneous neurofibromas were not apparent elsewhere on the body. Examination of the oral cavity revealed a lobulated lesion involving the right anterior two-thirds of the tongue. Excisional biopsy was performed for an exophytic portion of the right lingual edge of the lesion. Histopathological analysis of the tongue lesion confirmed the diagnosis of neurofibroma. Because the tongue lesion was widespread on the right side and the patient was 17 years old, we performed conservative treatment comprising surgical resection of only the dysfunctional, painful part of the lesion. Three years have elapsed with no sign of exacerbation.