Gardner Syndrome: case report and brief review of the literature

Cruz, Isabela Azevedo Nicodemos da; Vergílio, Fernanda Sasaki; Silva, Lorena Luryann Cartaxo da; Cruz, Gabriela Azevedo Nicodemos da

doi:10.11606/issn.2176-7262.v50i5p326-332

Cited by 1 publication

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“…A Syndrome de Gardner é uma disease rara, mais known por ser uma variante da polypose adenomatosa familiar (PAF), foi described em 1951 por Elton J. Gardner, e é definita por ser uma disease rara de origem hereditary autossômica dominante, na qual ocurra uma change no gene APC (Adenomatoses Polyposis coli) do chromosome 5q21, gene that plays a role in tumoral suppression. It is characterized by the triad of disseminated intestinal polyps, tumors and cysts of tecidos moles and multiple osteomas [1][2][3]. Catalent, sabe-se que existed diverse spectros de expression das alteraciones genéticas a depender da localização da mutation no gene, varando haver, desta maneira, diferentes fenótipos associados [4].…”

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“…Além disso, é recomendado investigate o histórico familiar precocemente, uma vez que a síndrome de Gardner é uma variante da polypose adenomatosa familiar, com um patterns de inheritance autosomal dominant e uma taxa de penetrância próxima a 100%. Dessa forma, o diagnostico antecipado, mais uma vez, contributará para uma melhor qualidade de vida a longo prazo [2,3].…”

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Gardner Syndrome: A Diagnosis Approach, Clinical Evolution and Review

Souza Silva,

Pereira,

Carneiro

et al. 2024

JBRR

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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.

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Section: Discussionunclassified