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

Guignard, N.; Cartier, C.; Crampette, L.; Akkari, M.

doi:10.1016/j.anorl.2016.05.007

Cited by 10 publications

(7 citation statements)

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“…be confirmed by gastrointestinal endoscopy and molecular genetic analysis, it may be guided by immune-histochemical profile of extra-intestinal lesions. A fibroma with tumor cells stained by anti-CD34 and beta-catenin antibodies would suggest a Gardner fibroma [15]. In this reported case study, four family members died of intestinal cancer without the diagnosis of GS.…”

Section: Revuesmentioning

confidence: 70%

Bone and dental abnormalities as first signs of familial Gardner’s syndrome in a Chinese family: a literature review and a case report

Zhu

et al. 2018

Med Sci (Paris)

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Gardner’s syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. GS is extensively reported in literature in the Caucasian race but not in the Mongoloid race. We report a case of a 22-year-old patient with a manifestation of three features of GS - multiple osteomas, soft tissue tumors and dental anomalies in the craniofacial region, with no intestinal polyps at the time of reporting. A family pedigree with our patient as the proband was constructed and revealed 3 consecutive generations in his lineage with GS.

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Section: Revuesmentioning

confidence: 70%

Bone and dental abnormalities as first signs of familial Gardner’s syndrome in a Chinese family: a literature review and a case report

Zhu

et al. 2018

Med Sci (Paris)

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“…Gardner's syndrome is associated with familial adenomatous polyposis (FAP), involving a mutation in anaphase promoting complex gene and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumors [6]. Approximately 7.5% of desmoid tumors are associated with familial adenomatous polyposis (FAP) in the general population.…”

Section: Discussionmentioning

confidence: 99%

Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report

Jin

Tan

et al. 2020

BMC Surg

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Background Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case. Case presentation A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks’ gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm2 in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year. Conclusions Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

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“…Lack of knowledge of Gardner syndrome can delay its diagnosis compromising the patient's management. About 80% of patients manifest early signs of the disease in the maxillofacial complex .…”

Section: Discussionmentioning

confidence: 99%