Oral and craniofacial features associated with neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder characterized by a wide spectrum of clinical manifestations affecting the skin, nervous system, bones, and oral cavity. This comprehensive review focuses on the oral and maxillofacial features of NF1, which are present in over 70% of patients and can significantly impact dental and skeletal health. Key oral findings include neurofibromas affecting both soft and hard tissues, dental anomalies, jaw deformities, malocclusion, and alterations in the temporomandibular joint. Radiographic anomalies such as enlarged mandibular canals and foramina are frequent. Although the relationship between NF1 and dental caries remains debated, patient education and preventive care are crucial. Early diagnosis through clinical signs such as café-au-lait spots, axillary freckling, and intraoral lesions is essential for appropriate management and genetic counseling.

Access to Document

Other files and links

• Link to publication in Scopus

Fingerprint