Periodontal manifestations and maxillofacial anomalies in neurofibromatosis type 1: a case report and literature review

Neurofibromatosis type 1 is an autosomal dominant genetic disorder characterized by tumors and cutaneous lesions. Oral soft tissue anomalies and periodontal problems are clinically significant in these patients. A 17-year-old patient with congenital Neurofibromatosis Type 1, previously diagnosed at an external medical centre based on clinical and histopathological examination, presented to our clinic with dental caries, gingival enlargement, and gingival bleeding affecting the left maxillary and mandibular regions. The patient had undergone five excisional surgical procedures over the preceding five years. Extraoral examination revealed a prominent facial deformity involving the left side of the face, with asymmetric enlargement of the left facial region. Café-au-lait macules with varying degrees of pigmentation were observed on different parts of the body. Intraoral examination revealed extensive and irregular soft tissue enlargements in the left mandibular region and buccal mucosa. These enlargements interfered with masticatory function and oral hygiene. Radiographic examination revealed bony expansions, morphological deformities of the mandible, and fractures in the temporomandibular joint region. Dental malpositions accompanied bony expansions and deformities. Periodontal examination demonstrated high plaque and gingival index scores. Nonsurgical periodontal therapy was performed. Six months later, the massive enlargement in the left mandibular premolar region that interfered with masticatory function was excised using a diode laser. Histopathological and immunohistochemical findings of the gingival tissue supported the diagnosis of neurofibroma. At the 6-month postoperative follow-up, gingival inflammation had subsided, oral hygiene had improved, particularly in the left mandibular region where gingivectomy had been performed, and the patient reported better masticatory function. This case report is notable for the oral and periodontal involvement of Neurofibromatosis Type 1, characterized by extensive involvement of the left maxillofacial region and massive gingival overgrowth, and illustrates the clinical management and healing response following periodontal treatment and diode laser surgery. In patients with Neurofibromatosis Type 1, craniofacial bone deformities, soft tissue anomalies, and dental anomalies make the maintenance of oral health difficult. Extending treatment over a prolonged period and providing long-term follow-up after resective surgical procedures are important factors in maintaining oral health in these patients.