The Surgical Management of Oral and Maxillofacial Manifestations of Gardner Syndrome

作者：Boffano Paolo^*; Bosco Giovanni Francesco; Gerbino Giovanni

来源：Journal of Oral and Maxillofacial Surgery, 2010, 68(10): 2549-2554.

DOI：10.1016/j.joms.2009.09.084

Gardner syndrome (GS) is a rare autosomal-dominant genetic disorder characterized by multiple colorectal adenomatous polyps and extraintestinal lesions, such as multiple osteomas, dental abnormalities, polyps of the stomach and small bowel, and mesenchymal tumors of the skin and soft tissues. Although most cases show familial clustering, about 30% of cases occur because of a new dominant mutation.(1.4)
Together with familial adenomatous polyposis (FAP), attenuated FAP, and Turcot syndrome, GS comprises a group of syndromes known as APC-associated polyposis conditions. These conditions are caused by mutations in the APC gene and show overlapping phenotypes.
The diagnosis of GS relies primarily on clinical findings. Extracolonic manifestations, such as osteomas and dental abnormalities, often precede diagnosis of the syndrome.(1.4)
As for intestinal lesions, colectomy is advised when more than 20 or 30 adenomas or multiple adenomas with advance histology are detected.(5) Osteomas may be removed for cosmetic reasons, and desmoid tumors may be surgically excised, too.(1.2)
Molecular genetic testing of APC is available and is often used in the early diagnosis of at-risk family members. Surveillance is recommended for these patients.(1)
We now present the surgical management of oral and maxillofacial manifestations of a patient affected by GS.

• 出版日期2010-10