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

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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.

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Acknowledgements

Section of osteoma kindly provided Dr. A Jay.

Author information

Authors and Affiliations

  1. Head and Neck Pathology, King’s College London Dental Institute, Guy’s & St, NHS Foundation Trust, London, SE1 9RT, UK

    Robert A. Kennedy & Selvam Thavaraj

  2. Department of Histopathology, King’s College Hospital, London, SE5 9R, UK

    Salvador Diaz-Cano

  3. Head and Neck Pathology, Guy’s Hospital, Floor 4, Tower Wing, Great Maze Pond, London, SE1 9RT, UK

    Robert A. Kennedy

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  1. Robert A. Kennedy
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  2. Selvam Thavaraj
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  3. Salvador Diaz-Cano
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Correspondence to Robert A. Kennedy.

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Kennedy, R.A., Thavaraj, S. & Diaz-Cano, S. An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. Head and Neck Pathol 11, 364–376 (2017). https://doi.org/10.1007/s12105-017-0778-1

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  • DOI: https://doi.org/10.1007/s12105-017-0778-1

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