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

详细信息    查看全文

• 作者：N. Guignard ; C. Cartier ; L. Crampette ; M. Akkari ; ^{mohamed.akkari.orl@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Gardner's syndrome ; Familial adenomatous polyposis ; APC gene mutation ; Fibromatous tumour of the parotid ; Parotidectomy
• 刊名：European Annals of Otorhinolaryngology, Head and Neck Diseases
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：133
• 期：5
• 页码：357-359
• 全文大小：884 K

文摘

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.