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Review
. 2017 Sep;11(3):364-376.
doi: 10.1007/s12105-017-0778-1. Epub 2017 Jan 21.

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

Affiliations
Review

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

Robert A Kennedy et al. Head Neck Pathol. 2017 Sep.

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.

Keywords: Maxillofacial; Oral; Tumour syndrome.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Figures

Fig. 1
Fig. 1
The photomicrograph shows a tricholemmoma populated by epithelial cells with clear to pale cytoplasm. There is a peripheral layer of columnar cells showing characteristic peripheral palisading of their nuclei associated with hyalinisation of the basement membrane. The lesion lies in continuity with the overlying hyperkeratotic epithelium
Fig. 2
Fig. 2
The first photomicrograph a shows a typical odontogenic keratocyst lined by stratified squamous epithelium with a thin wavy layer of parakeratin and a flat layer of palisaded basal cells. The second photomicrograph b shows an odontogenic keratocyst arising in a patient with nevoid basal cell carcinoma syndrome and known to possess a deletion on the long arm of chromosome 9 that included the PTCH1 gene. This odontogenic keratocyst shows prominent budding of the basal cell layers
Fig. 3
Fig. 3
The photomicrograph shows a fibrofolliculoma with the typical features of cords and anastomosing strands of epithelial cells lying within a fibromyxoid stroma
Fig. 4
Fig. 4
The photomicrograph shows a sebaceous carcinoma demonstrating basaloid cells and atypical sebaceous cells arranged in an infiltrative pattern
Fig. 5
Fig. 5
The photomicrograph shows an osteoma excised from the body of the mandible in a case of Gardner syndrome/FAP. The osteoma is formed from lamellar bone together with fatty marrow
Fig. 6
Fig. 6
The photomicrograph shows a mucosal neuroma that was located on the tongue. There is a proliferation of small nerves within the papillary mucosa. Myxoid change is frequent and perineurium is prominently thickened

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