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Cowden syndrome: mucocutaneous lesions as precursors of internal malignancy

  • Case Report
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Oral and Maxillofacial Surgery Aims and scope Submit manuscript

Abstract

Background

Cowden syndrome is an autosomal-dominant hereditary cancer syndrome with high variability and susceptibility. It is characterized by multiple hamartomas and neoplasms of ectodermal, endodermal and mesodermal origin affecting many organs and also by the increased risk of development of internal malignancies.

Case report

A 62-year-old woman was referred to our Maxillofacial Unit with a hamartomatous mass of the left lateral tongue which had slowly grown and was obstructing normal speech and restricting oral intake. The patient had a known history of Cowden syndrome and underwent excision of the lesion under general anaesthetic.

Discussion

Orofacial mucocutaneous features are very common in multiple hamartoma and neoplasia syndrome with almost up to 90 % of the patients being affected. These cutaneous and mucosal lesions, which are predominantly benign, often manifest prior to the development of the internal malignant tumours associated with the syndrome.

Conclusions

The prompt identification of Cowden syndrome’s plethoric signs and symptoms can lead to appropriate surveillance and multidisciplinary management. Oral manifestations are frequent, prominent and usually precede the establishment of malignant tumours of visceral organs; hence, the maxillofacial surgeon or general dentist may have a significant role in the recognition of the disease. Overall prognosis is dependent on prevention or early treatment of internal malignancies; consequently, early diagnosis together with frequent follow-up forms the cornerstone of management.

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Conflict of interest

The authors declare that they have no conflict of interest.

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Author notes

  1. Panagiotis Stathopoulos

    Present address: , Flat 21, Ryan Place, 62 St Marychurch Road, TQ1 3HG, Torquay, UK

Authors and Affiliations

  1. Department of Oral and Maxillofacial Surgery, Royal Devon and Exeter Hospital, Exeter, UK

    Panagiotis Stathopoulos & Anna Raymond

  2. Royal Devon and Exeter Hospital, Exeter, UK

    Michael Esson

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  1. Panagiotis Stathopoulos
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  2. Anna Raymond
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Correspondence to Panagiotis Stathopoulos.

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Stathopoulos, P., Raymond, A. & Esson, M. Cowden syndrome: mucocutaneous lesions as precursors of internal malignancy. Oral Maxillofac Surg 18, 229–235 (2014). https://doi.org/10.1007/s10006-014-0445-6

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  • DOI: https://doi.org/10.1007/s10006-014-0445-6

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