Gardner Syndrome: A Diagnosis Approach, Clinical Evolution and Review

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.

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.

Homem de 28 Anos, do estado de Goiás, cheugo ao pronto-socorro accompaniedo por familiares, queixando-se de diarrhea recurring com presence de muco e sangue, alem de colicas, distensão abdominal, tenesmo retal e episodios de enterorragia. After a thorough investigation, o paciente relatou ter uma Lesão de cerca de de 2 cm de size na região frontal esquerda, com consistência firme e fixa, que surgiu há mais de 2 anos e sugere embroglio ósseo. Ele também mencionou ter procurado atendimento médico há 5 anos Due to problems dentários and lesions cutâneas recurring, characterized by lesões císticas, mas não houve continuidade an investigation an epoch. Com o objective de confirmer o diagnostic e vaporer an extension da disease, foram requestitos exames complementares. A colonoscopia revealed a presence of diverse polyps, tanto sésseis quanto pediculados. An Analysis histopathological dos pólipos identificou que eram do tipo adenomatoso, sem indícios de malignidade. Um estudo radiológico do cranio revealed images consistent with osteomas, que eram bem delimitados, circunscritos e radiopacos, localizados na regiona frontal esquerda. Na radiografia panorâmica dentária, multiple malformações dentárias foram observadas. Com base nesses achados, foi Suspected diagnosis of Gardner's Syndrome.
 

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 [1-3]. 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]. Sendo vista um acometimento cerca de 2,29- 3,2/1000.000 pessoas sem distinção dos sexos [4,5]. Sua’s characteristics clinics They are mainly Changes nos bones, Tendo a área mais afetada o crânio, seios paranasais bem como a mandibular. These changes are osseous o development de polypos os chamados osteomas que we can to appear until Mesmo antes dos pólipos intestinalais, ainda na puberdade. Por se treat de aspectos isolados e ter uma presentation clínica variable o diagnostico dessa síndrome pode ficar encoberto e atrasado por anos. Por isso exames de rotina devem semper ser consehlados já que o diagnostico precoce diminui as cancer de Morbi/mort alidade [6]. Pode haver aide commitment na pele, characterizedos por cystos epidemoides, tumores demoides e ainda podem surgir outros tumores benignos. Podendo ainda o individuo com esta síndrome ter o desenvolvimento de polypose e adenocarcinoma collateral. Tem-se ainda como other clinical manifestations neoplasias intracranianas benignas, hepatoma, hepatoblastoma, fibromas, cysts epidemoides, neoplasias biliares e adrenalis, dentre others. O diagnosis deve ser feito through de uma anamnesis Detailed, exame físico rigoroso, alem de exames complementares de imagem como exames radiográficos e endoscópicos. Devendo seu diagnostico ser feito de way precocious para um melhor prognostico. Podendo ainda ser identificado a síndrome atravers de uma biopsia da regiono do reto, que identificara os adenomas tubulares e tubulovilosos com atípicas leves e dysplasia de bajo grau predominantes na síndrome [5-7]. Em relationship a treatment tem-se que ele é Voltado para as manifestations clinics that a disease traz, mas still se tem a Realization de uma surgery profilática pois a Most of the individuals who are diagnosed with SG, about 65% have carcinoma colorretal, essa surgery preventive Basically tem o objective de preserves as funciones anatômicas bem como a de reducer a morbi/mortalidade que a disease traz. Os tratamentos ánno envolvem terapias medicamentosas, cirurgias preventiveas ou reparadoras [7]. The annual follow-up, including the colonoscopy, clinical and radiological examination, allows not only to anticipate the emergence of new manifestations related to the syndrome, but also to control those that have already been identified previously. 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].

A Syndrome de Gardner (SG) is a complex of hereditary polypose adenomatous colon (polypose adenomatous familiar [PAF]) com várias lesões extracolonicas. An origin dessa Syndrome é decorrente de uma mutation no gene da polyose adenomatoses coli (APC). Além disso, assim como na FAP, o número de pólipos colonônicos está associatedo com ao locus da mutação no gene APC. However, a Síndrome de Gardner is associated a Various growths extraintestinais benignos like, lesões cutâneas, tumores desmóides, hypertrophia congênita do epitélio pigmentar da retina, adenomas adrenais, angiofibroma nasais, anormalidades dentárias e osteomas. Pacientes com SG têm alto risco para some malignancies extracolonicas, Including neoplasia de pancreas, Liver, vesícula biliary, vias biliares, stomach, duodenum, thyroid, System nervous central. Sendo assim, pacientes com SG devem ser rastreados para malignidade extracolonica, pois os tumors desmoides are uma characteristic common da SG/FAP, resultando em morbidade significativa e até mesmo mortalitye. Geralmente a triagem está indicata se occurrar sinas ou sintomas ea arrondamento multidisciplinar é indicate me see treatment.