title: An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
abstract: Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). The pertinent features of these syndromes are reviewed with a systems-based approach, emphasising their clinical impact and diagnosis.
authors.affiliation: Head and Neck Pathology, King's College London Dental Institute, Guy's & St, NHS Foundation Trust, London, SE1 9RT, UK. robertkennedy@nhs.net.|Head and Neck Pathology, Guy's Hospital, Floor 4, Tower Wing, Great Maze Pond, London, SE1 9RT, UK. robertkennedy@nhs.net.
authors.forename: Robert A
authors.identifier: http://orcid.org/0000-0001-5608-6243
authors.initials: RA
authors.lastname: Kennedy
authors.affiliation: Head and Neck Pathology, King's College London Dental Institute, Guy's & St, NHS Foundation Trust, London, SE1 9RT, UK.
authors.forename: Selvam
authors.initials: S
authors.lastname: Thavaraj
authors.affiliation: Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
authors.forename: Salvador
authors.initials: S
authors.lastname: Diaz-Cano
mesh_terms: D006258:Head and Neck Neoplasms; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary
keywords: Maxillofacial; Oral; Tumour syndrome