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  • Title: Gardner's syndrome presenting with a fibromatous tumour of the parotid.
    Author: Guignard N, Cartier C, Crampette L, Akkari M.
    Journal: Eur Ann Otorhinolaryngol Head Neck Dis; 2016 Nov; 133(5):357-359. PubMed ID: 27291484.
    Abstract:
    INTRODUCTION: Gardner's syndrome is the association of familial adenomatous polyposis (FAP) with an anaphase promoting complex (APC) gene mutation and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumours. Only 2 cases of FAP associated with parotid tumour have been reported in the literature: one carcinoma and one pleomorphic adenoma. CASE REPORT: We report the case of a 23-year-old man with Gardner's syndrome presenting with a fibromatous tumour of the left parotid gland. The other clinical manifestations were an osteoma of the skull base and a mesentery desmoid tumour. Left total parotidectomy was performed, followed by gastroscopy and colonoscopy, demonstrating numerous colonic adenomas. Genetic analysis revealed an APC gene mutation, confirming the diagnosis. Total prophylactic colectomy was performed. CONCLUSIONS: This is the first reported case of Gardner's syndrome associated with a fibromatous tumour of the parotid. Early management of FAP is essential to prevent colorectal cancer that occurs in 100% of untreated cases. The rarity of this syndrome and the parotid site can lead to delayed diagnosis.
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