Gardner's syndrome presenting with a fibromatous tumour of the parotid.
BACKGROUND
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.


METHODS
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.
Service d'ORL et chirurgie cervicofaciale, CHU de Montpellier, université de Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
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Guignard
Service d'ORL et chirurgie cervicofaciale, CHU de Montpellier, université de Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
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Cartier
Service d'ORL et chirurgie cervicofaciale, CHU de Montpellier, université de Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
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Crampette
Service d'ORL et chirurgie cervicofaciale, CHU de Montpellier, université de Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: mohamed.akkari.orl@gmail.com.
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Akkari
D005350:Fibroma / Q000473:pathology*; D005736:Gardner Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010307:Parotid Neoplasms / Q000473:pathology*; D055815:Young Adult
APC gene mutation; Familial adenomatous polyposis; Fibromatous tumour of the parotid; Gardner's syndrome; Parotidectomy