Head and Neck Genetic Tumor Syndr.pdf (1.2 MB)
An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region
journal contribution
posted on 2017-01-23, 09:06 authored by Kennedy RA, Thavaraj S, Salvador J. Diaz-CanoSalvador J. Diaz-CanoSeveral
autosomal dominant inherited tumor syndromes demonstrate prominent
features in the oral and maxillofacial region. Although multiple organ
systems are frequently involved, the target organs more commonly
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,
emphasizing their clinical impact and diagnosis.