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.

Oral Mucosal Lesions in Childhood

“…Neurofibromatosis type 1, also referred to as von Recklinghausen’s disease, is an inherited autosomal dominant disorder characterized by the growth of multiple benign tumors along the nerves and on the skin, neurofibromas [ 11 , 43 , 57 , 58 , 59 ]. In cases when it is localized on the head and neck, it usually affects the skin; however, neurofibromas in the mouth are not uncommon [ 43 , 57 , 59 , 60 , 61 , 62 ]. There, it is typically present in the form of a submucosal, soft, discreet mass of smaller diameter, mostly on the alveolar processus and palate [ 11 , 43 , 57 , 59 , 60 , 61 , 62 , 63 , 64 ].…”

“…In cases when it is localized on the head and neck, it usually affects the skin; however, neurofibromas in the mouth are not uncommon [ 43 , 57 , 59 , 60 , 61 , 62 ]. There, it is typically present in the form of a submucosal, soft, discreet mass of smaller diameter, mostly on the alveolar processus and palate [ 11 , 43 , 57 , 59 , 60 , 61 , 62 , 63 , 64 ]. Neurofibromatosis type 1 should be suspected in cases when the described changes are associated with multiple café-au-lait spots on the skin [ 11 , 43 , 57 , 58 , 59 , 62 , 64 ].…”

Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry

“…In two interesting case reports 27 , 28 the importance of such contribution for cases of Neurofibromatosis type 1 (NF1) is highlighted. In these manuscripts, different reports are presented and the common denominator between them is that the disease was specifically diagnosed during dental consultations.…”

“…In one of them 27 the patient's main complaint was related to the presence of a slowly growing mass at the mandibular level, subsequently identified as a neurofibroma, together with other typical NF1 manifestations, including café au lait spots on the trunk, shin and knees, and subcutaneous neurofibromas. Oral manifestations and lesions can be present in up to 72 % of patients affected by NF1, 28 , 29 and among the most common presentations are enlargement of the fungiform papillae (in 50 % of cases), presence of single or multiple neurofibromas on hard or soft oral tissues, wide inferior alveolar canals, and enlarged mandibular foramina. 27 , 28 , 29 It is worth highlighting here that the presence of neurofibromas, in addition to their individual implications, can also be associated with the occurrence of different dental, buccal, and maxillofacial disorders like tooth mobility, eruption dysfunction, inclusion or infraocclusion of deciduous or permanent teeth, and hypertrophy of underlying bone structures.…”