Neurofibromatosis ‐1 diagnosed from an intraoral swelling – a case series

Abstract

The neurofibromatoses [NF 1, NF 2 and schwannomatosis] are a group of genetic disorders that lead to the development of nervous system tumours and have diverse dermatologic, neurologic, ophthalmic, skeletal and vascular effects. The most common is NF 1 (Neurofibromatosis 1) also known as von Recklinghausen's disease, which is one of the most common human genetic diseases. Oral manifestations of NF 1 are reported in 72% of cases and in one of our cases precipitated attendance at a general dental practitioner (GDP), subsequent diagnosis and genetic screening for family members. This disease may go undiagnosed due to its variable expressivity of symptoms. The pivotal importance of a GDP in the discovery and early referral to an oral or oral and maxillofacial surgeon for further investigation and diagnosis of this condition is highlighted. Knowledge of the most common features of neurofibromatosis can facilitate the speedy referral and subsequent diagnosis of generalized neurofibromatosis, local surgical management of benign neoplasms and long term management of its other clinical features. Dentists should be aware of the classic symptoms of this condition and of their role in long-term care in view of the risk of local recurrence and malignant transformation.