Gardner Syndrome: A Diagnosis Approach, Clinical Evolution and Review

Abstract

Introduction: Gardner Syndrome is characterized as an autosomal and dominant genetic mutation. Case Presentation: A 28-year-old man from the state of Gioias arrived at the emergency room accompanied by family members, complaining of recurrent diarrhoea with the presence of mucus and blood, in addition to cramps, abdominal distension, rectal tenesmus and episodes of metrorrhagia. After a thorough investigation, the patient reported having a lesion of about 2 cm in size on the left frontal region, with a firm and fixed consistency, which appeared more than 2 years ago and suggests bone involvement. He also mentioned having sought medical attention 5 years ago due to dental problems and recurrent skin lesions, characterized by cystic lesions, but there was no further investigation at the time. Discussion: It is a syndrome with a variant of familial adenomatous polyposis, presenting a wide range of clinical manifestations, with significant intestinal involvement, as well as osteomas and soft tissue tumours, which in general precede the intestinal clinical picture. The diagnosis of Gardner's Syndrome is made with multiple tools, involving clinical, radiological, endoscopic and genetic exams, and, being early, there is a significant improvement in prognosis. In order to avoid the malignant progression of intestinal polyps, prophylactic colectomy is indicated in most cases, but it is necessary to individualize the follow-up according to the phenotype of the disease. Conclusion: Patients with GS should be screened for intracolonic malignancy annually, as desmoid tumours are a common feature of GS/FAP, resulting in significant morbidity. and even mortality. Thus, early diagnosis, once again, will contribute to a better quality of life in the long term.