Tumor desmoide abdominal gigante en puerperio: caso clínico y revisión de la literatura / Giant abdominal desmoid tumor during the puerperium: Case report and review of literature

Introducción. Los tumores desmoides o fibromatosis agresiva corresponden a neoplasias mesenquimales poco frecuentes. Son tumores localmente agresivos que ocurren especialmente en jóvenes, no desarrollan metástasis a distancia, pero se asocian con invasión locorregional y alta tasa de recurrencia después de la resección. Su etiología es desconocida, pero se ha asociado al síndrome de Gardner, trauma, embarazo, estados hiperestrogénicos y puerperio. El objetivo de este artículo fue hacer una revisión sobre el tema a propósito de un caso clínico. Caso clínico. Se presenta el caso de una paciente puérpera con progresivo y rápido aumento del volumen abdominal. Se realizó una tomografía computarizada de abdomen y pelvis que confirmó la presencia de una masa intraperitoneal bien definida. La paciente fue operada con escisión de la masa y confirmación histológica de tumor desmoide a partir de la muestra de patología. Discusión. Los tumores desmoides tienen una incidencia de 2 a 4 casos por millón de habitantes por año, con leve predominio en el sexo femenino y representan menos del 3 % de los tumores de partes blandas. Aunque el tumor se puede ubicar a nivel intraabdominal o en la pared, la ubicación más común es en las extremidades. Conclusiones. La sospecha y detección del tumor desmoide es fundamental, así como su adecuado estudio, para determinar el tratamiento quirúrgico como fue realizado en este caso

Introduction. Desmoid tumors or aggressive fibromatosis correspond to rare mesenchymal neoplasms. They are locally aggressive tumors that occur especially in young people, they do not develop distant metastases, but are associated with locoregional invasion and a high recurrence rate after resection. Its etiology is unknown, but it has been associated with Gardner syndrome, trauma, pregnancy, hyperestrogenic states, and puerperium. The objective of this article was to review the topic based on a clinical case. Clinical case. The case of a puerperal patient with progressive and rapid increase in abdominal volume is presented. An abdominal and pelvic CT scan was performed, which confirmed the presence of a well-defined intraperitoneal mass. The patient underwent surgery with excision of the mass and histological confirmation of a desmoid tumor from the pathology sample. Discussion. Desmoid tumors have an incidence of 2 to 4 cases per million inhabitants per year, with a slight predominance in females, and represent less than 3% of soft tissue tumors. Although the tumor can be located intra-abdominal or in the wall, the most common location is in the extremities. Conclusions. The suspicion and detection of the desmoid tumor is essential, as well as its adequate study to determine the surgical treatment as it was done in this case

Gardner syndrome imaging features in plain radiographs and computed tomography: a case report / Síndrome de Gardner: Características imaginológicas por meio da radiografia convencional e tomografia computedorizada

Gardner syndrome (GS) is a genetic disease with high penetration characterized by a signal triad of colonic polyposis, multiple osteomas and mesenchymal tumors in the soft tissues and skin. The colonic polyposis is associated to the development of malignant disease. Patients may also present maxillomandibular alterations such as impacted teeth, supernumerary teeth, congenital missing teeth and odontomas. Bone lesions and maxillomandibular alterations usually precedes the gastrointestinal alterations; hence dentists should be aware of GS syndrome main radiographic signals, in order to detect the disease and proper referred the patient to medical treatment and surveillance. Thus, in this report, it is described a case of GS in a male patient, as well as discussed GS features.(AU)

A síndrome de Gardner (GS) é uma doença genética caracterizada pela seguinte tríade: polipose colônica, múltiplos osteomas e tumores mesenquimais em tecidos moles e pele. A polipose colônica está associada ao desenvolvimento de tumores malignos. Os pacientes também podem apresentar alterações maxilomandibulares, como dentes impactados, dentes supranumerários, agenesia congênita e odontomas. Lesões ósseas e alterações maxilomandibulares geralmente precedem as alterações gastrointestinais; portanto, os dentistas devem estar cientes dos principais sinais imaginológicos da GS, a fim de detectar a doença e encaminhar adequadamente o paciente para tratamento. Neste relato de caso é descrito um caso de GS em um paciente do gênero masculino, além de discutir as características da GS.(AU)

Osteoma em côndilo mandibular associado à síndrome de gardner: relato de caso / Osteoma in mandibular condyle associated with gardner syndrome: a case report

Os osteomas geralmente são lesões solitárias, de crescimento lento e assintomáticas. Os locais de ocorrência mais comuns são o corpo da mandíbula e o côndilo, mas quando envolvem esta região podem causar alterações na oclusão do paciente, desvio progressivo e lento de linha média, assim como aumento do volume facial acompanhado de dor e limitação de abertura bucal. Cerca de 90% dos pacientes portadores da Síndrome de Gardner apresentam anormalidades esqueléticas, fazendo os osteomas as lesões mais frequentes e de maior ocorrência em seios paranasais e nos maxilares. O objetivo deste trabalho é relatar o caso clínico de uma paciente do gênero feminino, portadora de Síndrome de Gardner com osteoma localizado em côndilo mandibular esquerdo que, devido aos sintomas relatados pelo paciente, foi submetida à ressecção cirúrgica por meio de acesso intra oral para melhor abordagem da lesão e que evoluiu para a solução da sintomatologia apresentada como queixa principal quando procurou o serviço de Cirurgia e Traumatologia Buco-maxilo-facial.

Osteomas are usually solitary, slow-growing and asymptomatics lesions. The most common sites of occurrence are condyle and jaw body. Osteomas involving condyle can cause changes in patient’s occlusion, progressive and slow deviation of the midline, as well as increased facial volume accompanied by pain and limited mouth opening. An osteoma located in mandible border is typical of the Gardner’s Syndrome. There are many clinical features of this syndrome, which can affect the skin, endocrine system and orofacial area. About 90% of patients with this condition have skeletal abnormalities, making osteomas the most frequent lesions in the paranasal sinuses and jaws. The objective of this work is to report the clinical case of a female patient with Gardner’s Syndrome with osteoma located in the left mandibular condyle, who was submitted to resection of the lesion.

Poliposis adenomatosa familiar: a propósito de 2 casos / Familiar Adenomatous Polyposis: Report of 2 Cases

La poliposis adenomatosa familiar (PAF) se basa en una mutación autosómica dominante de pérdida de la función en el gen supresor tumoral APC. El síndrome de Gardner es un tipo de PAF y está caracterizado por múltiples pólipos adenomatosos colónicos además de anormalidades extracolónicas como tumores desmoides, osteomas, lipomas, anormalidades dentales, quistes dermoides y adenomas duodenales. Este reporte tiene como propósito presentar dos casos referentes a PAF. El primer caso, trata de un paciente con osteomas e historia de hematoquezia, con diagnóstico de sindrome de Gardner posterior a la colonoscopia. El segundo caso es un paciente con historia familiar de cáncer de colon, que al examen colonoscópico se le diagnostica PAF con adenocarcinoma tubular bien diferenciado. Se decide reportar los casos debido a que son los primeros reportes en el Perú sobre esta entidad

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of the APC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. The second patient has a family history of colon cancer, who is diagnosed with FAP with tubular adenocarcinoma. We decide to report both cases due to the absence of previous reports in Peru

Gardner syndrome with chronic osteomyelitis of the jaw: a case report / 华西口腔医学杂志

Gardner syndrome is a rare autosomal dominant disease. Its symptoms include multiple intestinal polyps, soft tissue tumors, dental disorders, osteoma, and congenital hypertrophy of the retinal pigment epithelium. Here, we present a patient with Gardner syndrome and chronic osteomyelitis of the jaw to highlight the serious damage that can be caused by Gardner syndrome.

Síndrome de Gardner: relato de caso e breve revisão da literatura / Gardner Syndrome: case report and brief review of the literature

Modelo do estudo: Relato de caso. Importância do problema e comentários: A Síndrome de Gardner trata-se de uma variante da Polipose Adenomatosa Familiar (PAF), com associação de pólipos gastrointestinais, tumores de partes moles e tumores ósseos. É uma desordem rara e o diagnóstico precoce é crucial para redução da morbimortalidade. O presente estudo relata um caso de Síndrome de Gardner com seus achados clínicos e radiológicos, além de apresentar breve revisão da literatura. (AU)

Type of study: Case report. Relevance and comments: Gardner Syndrome is a variant of Familial Adenomatous Polyposis (FAP), with the association of gastrointestinal polyps, soft tissue tumors and bone tumors. It is a rare disorder and early diagnosis is crucial to reduce its morbimortality. The present report illustrates a case of Gardner Syndrome with its clinical and radiologic features, as well as a brief review of the literature. (AU)

The diagnosis and treatment progress of Gardner syndrome / 口腔疾病防治

@#Gardner syndrome is a rare disease in oral and maxillofacial diseases which is characterized by intestinal polyposis, multiple osteomas, skin and soft tissue tumors. Early treatment has a better prognosis; therefore the early diagnosis of Gardner syndrome is very important. Maxillofacial pathology always appears to precede the other pathologies, so the importance of early detection of the syndrome by dentists is also emphasized. This review summarizes the etiology of Gardner syndrome-related mutations and the clinical manifestations of Gardner syndrome characterized by oral and maxillofacial deformities, multiple gastrointestinal polyps, and desmoid tumour, and their associated treatment.

A Case Report of Gardner-Associated Fibroma in 19-Month-Old Girl / 소아외과

Gardner-associated fibroma (GAF) is a benign lesion of soft tissue which has recently been described and is exceedingly rare in children. GAF is associated with adenomatous polyposis coli gene mutation, familial adenomatous polyposis and desmoid. We report a case of patient with soft tissue tumor on her lower back which was turned out to be GAF. The patient was a 19-month-old female who visited out-patient clinic with palpable mass on her lower back and we performed surgical excision. The tumor was located at subcutaneous and we excised the tumor including surrounding soft tissue. She discharged without any complication on surgery day. The pathologic report showed dense collagenous tissue with spindle cell and adipose tissue, suggestive of GAF. We are planning to check gene study and to perform endoscopy and abdominal ultrasonography for at the age of 4.

Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

Gardner's syndrome suggested by radiographic findings / Síndrome de Gardner sugerida por achados radiográficos

Gardner's syndrome (GS) is a hereditary disorder characterized by multiple osteomas, enostosis, epidermoid cysts, subcutaneous desmoid tumors and multiple gastrointestinal polyps. Given the variety of clinical manifestations, the triad of symptoms that better characterizes the GS is composed by polyps of the colon, multiple osteomas and tumors of soft tissue. The osteomas are most common in the frontal bone and mandible. A significant feature of GS is the progression to malignancy of the intestinal polyps in almost 100% of patients. Early detection of GS allows for an excellent prognosis and may be a lifesaving event. Thus, the aim of this case report was to describe the radiographic aspects of GS in the dentomaxillofacial region and to discuss with the current scientific literature.

A síndrome de Gardner (SG) é uma desordem caracterizada por múltiplos osteomas, enostosis, cistos epidermoides, tumores desmoides subcutâneos e múltiplos pólipos gastrointestinais. Considerando a variedade de manifestações clínicas, a tríade dos sintomas que melhor caracterizam a SG é composta por pólipos do cólon, múltiplos osteomas e tumores de tecido mole. Os osteomas são mais comuns no osso frontal e mandíbula. Uma característica significativa da SG é a progressão maligna dos pólipos intestinais em aproximadamente 100% dos pacientes. A detecção precoce da SG favorece um excelente prognóstico e pode salvar vidas. Então, o objetivo deste relato de caso foi descrever os aspectos radiográficos da SG na região dento-maxilo-facial e discutir com a literatura científica atual.

Cáncer de tiroides y síndromes polipósicos intestinales Síndrome de Gardner / Thyroid cancer and intestinal polyposis syndromes Gardner syndrome

Resumen Presentamos el caso de una mujer de 22 años de edad, evaluada debido a que en su historia familiar a su madre se le encontró carcinoma de colon sigmoide. A la paciente se le diagnosticó poliposis colónica, que resolvió tras remoción endoscópica de las lesiones. Se realizó estudio de nódulo tiroideo y se realizó tiroidectomía total encontrándose un carcinoma papilar de tiroides como diagnóstico definitivo. Hicimos una revisión de la literatura. (Acta Med Colomb 2013; 38: 182-185).

Abstract We report the case of a 22-year-old woman evaluated because in her family history his mother had a sigmoid colon carcinoma. The patient was diagnosed with colonic polyposis, which resolved after endoscopic removal of the lesions. We made the study of a thyroid nodule and performed total finding a papillary thyroid carcinoma as definitive diagnosis. (Acta Med Colomb 2013; 38: 182-185).

Gardner Syndrome Showing Multiple Osteomas in the Jaws

A Case of Gardner's Syndrome Presenting as an Abdominal Wall Mass

Familial adenomatous polyposis (FAP) is characterized by large numbers of adenomatous polyps in the colon and inherited as an autosomal dominant disease. Gardner's syndrome is a form of FAP accompanied by extra-colonic tumors and desmoid tumors. Desmoid tumors are rare, and benign tumors characterized by fibroblastic proliferation of fascial and musculoaponeurotic components. There is an approximate 1,000 times higher incidence of desmoid tumors in patients with FAP compared with the general population. Desmoid tumors in Gardner's syndrome occur in the small bowel mesentery in 80% of all cases, and the other 20% in the abdominal wall or the extremities. Almost all cases of desmoid tumors in Gardner's syndrome were incidentally found after prophylactic total proctocolectomy for colon cancer prevention in the patients with FAP. We report a case of Gardner's syndrome associated with codon 1099 mutation of the adenomatous polyposis coli gene, in which the patient was initially found to have desmoid tumors and subsequently diagnosed as FAP by screening colonoscopy.

Giant desmoid tumor of the abdominal wall in a patient with Gardner Syndrome

Gardner syndrome (GS) is a rare entity characterized by a triad of familial colonic polyposis, multiple osteomas and soft tissue tumors, including desmoid tumor (DT). This is a case report of a 30 year-old patient with GS who developed giant DT in the abdominal wall after undergoing several laparotomies. The patient has taken a long time to search for medical care, and at first he saw another team that refused to operate him by judging the lesion unresectable. The surgery in our department was performed in three steps. Initially, we resected the lesion with macroscopic margins, and as there were small bowel adhesions in the tumor, we performed enterectomy and closed using the "Bogotá" technique, with skin closure on the bag. On the fourth postoperative day (POD), we reoperated the abdomen without identifying any signs of fistula. On the seventh POD there was another surgical intervention, this time to insert a double-sided mesh. The patient recovered well, and had no debilitating motor deficit, despite the extensive resection of the abdominal muscles. Curative treatment of DT is based on surgical resection and only sequential surveillance allows us an early diagnosis, when the lesion is still resectable. (AU)

Tumor desmoide gigante de parede abdominal em paciente portador da Síndrome de Gardner. A Síndrome de Gardner (SG) é uma entidade rara caracterizada pela tríade polipose colônica familial, múltiplos osteomas e tumores de tecidos moles, dentre eles o tumor desmoide (TD). Tratou-se de um relato de caso de um paciente de 30 anos, com SG que evoluiu com TD gigante em parede abdominal, após ser submetido a diversas laparotomias prévias. O paciente levou longo tempo para procurar o serviço de cirurgia, passando por outra equipe que se negou a abordá-lo por julgar a lesão irressecável. A cirurgia no nosso serviço se deu em três tempos. Inicialmente, foi feita a ressecção da lesão com margens macroscópicas e, por haver aderências de alças no tumor, realizamos enterectomia e fechamos a Bogotá com síntese da pele sobre a bolsa. No quarto dia pós-operatório (DPO), reabordamos o abdômen sem identificar sinal de fístula. No sétimo DPO houve nova abordagem, agora para colocar tela dupla face. O paciente evoluiu bem, sem déficit motor debilitante, apesar da extensa área de ressecção muscular abdominal. O tratamento curativo dos TD é baseado na sua ressecção cirúrgica e somente a vigilância sequencial nos permite seu diagnóstico precoce e a abordagem enquanto a lesão é ressecável. (AU)

Síndrome de Gardner / Gardner´s syndrome

El síndrome de Gardner, una variante de la poliposis adenomatosa familiar, es una enfermedad hereditaria autosómica dominante caracterizada por la presencia combinada de múltiples pólipos intestinales y manifestaciones extraintestinales que incluyen osteomas múltiples, tumores del tejido conectivo carcinoma de tiroides hipertrofia del epitelio pigmentado de la retina, también son frecuentes la presencia de dientes supernumerarios retenidos y odontomas. Se presenta un caso clínico de un paciente masculino, de 20 años de edad que acude a consulta por presentar aumento de volumen en tres localizaciones de la región facial. Radiográficamente se constataron las imágenes radiopacas características del osteoma y con la rectosigmoidescopia la presencia de pólipos intestinales. La intervención quirúrgica de los osteomas se realizó bajo anestesia general que incluyó condilectomía del lado izquierdo. El diagnóstico histopatológico fue de osteoma ebúrneo. Un año después del procedimiento se observó clínicamente recuperación estética y funcional y radiográficamente buena regeneración ósea en al ángulo mandibular donde se encontraba el osteoma de mayor diámetro. El paciente ha tenido hasta la actualidad una evolución muy satisfactoria, con excelente apertura bucal. El objetivo es describir el manejo que se tuvo con un paciente con síndrome de Gardner en el Servicio de Cirugía Maxilofacial de Artemisa(AU)

Gardner's syndrome, a variant of familial adenomatous polyposis, is a dominant autosomal inherited disease characterized by multiple intestinal polyps together with extra-intestinal manifestations including multiple osteomas, connective tissue tumors, thyroid carcinomas, hypertrophied pigmented epithelium of the retina, and also frequent retained supernumerary teeth and odontomas. The objective of this paper was to describe the management of a patient with Gardner's syndrome at the maxillofacial surgery service in the province of Artemisa. The clinical case of a male patient aged 20 years, who went to the maxillofacial service on account of increased volume of the facial area in three sites. The X-rays showed radiopaque images characteristic of osteomas whereas rectosigmoidoscopy revealed intestinal polyps. The osteomas were surgically removed under general anesthesia including condylectomy on the left side. The histological-pathological diagnosis was osteoid osteoma. One year after the surgical procedure, the clinical exam showed esthetic and functional recovery and the radiographies disclosed good bone regeneration in the mandibular angle where the biggest osteoma was found. The patient has recovered very satisfactorily, with excellent oral opening(AU)

Multiple Impact Supernumary Teeth - A Rare Case Report.

While impaction of tooth is widespread, multiple impacted teeth by itself is a rare condition and is found in association with syndromes such as cleidocranial dysplasia or Gardner’s syndrome. This paper describes a young male who didn’t possess any systemic conditions or syndromes with forty six multiple impacted teeth involving both jaws. Based on the clinical presentation, radiographic examination and histopathological studies, this paper discusses the differential diagnosis and management of such cases.

A Case of Gardner's Syndrome Associated with Desmoid Tumor

Desmoid tumors are uncommon benign neoplasm of the fibroblasts. They occur rarely in the general population, but they are comparatively common in patients with familial polyposis coli with or without other elements of Gardner's syndrome. Herein, we report a 16-year-old woman with Gardner's syndrome complicated by desmoid tumors on the right subscapular area.

Osteoma gigante de la mandíbula en un paciente con el síndrome de Gardner / Giant osteoma of the mandible in a patient with Gardner syndrome

Este trabajo presenta la relación de un Osteoma de gran tamaño de la mandíbula con el s¡ndrome de Gardner. En un paciente masculino de 16 años de edad que causo asimetría facial. La característica más importante del síndrome de Gardner es la presencia de pólipos intestinales, osteomas múltiples y diferente tumores cutáneos. Los primeros síntomas de este síndrome son lesiones dentales y/o mandibulares. El estudio radiográfico del osteoma mostró un nódulo subcortical de aproximadamente 5 cm de diámetro en al rama ascendente derecha. La exéresis quirúrgica se realizó bajo anestesia general. El diagnóstico histopatológico fue de un osteoma osteoide. Un año después del procedimiento se observó radiográficamente la regeneración ósea. El paciente ha tenido hasta la actualidad una evolución sastifactoria

This paper presents the relation of mandibular jaw osteoma of great size with gardner Syndrome which caused facial asymmetry in a 16 years-old male patient. The most important characteristic of Gardner Syndrome is the presence of intestinal polyps, multiple osteomas and different cutaneos tumours. Dental and mandibular lesions are the first symptoms of this Syndrome. The radiographic study of the Osteoma showed a subcortical nodule around 5cm in the right ascending ramus. The surgical removal was performed under general anaesthesia. The histopathological diagnostic was of a ostioide osteoma. Bone regeneration was radiographically observe one year after the procedure. At the present the patient has had a satisfactory outcome

A case of Gardner's syndrome associated with adrenal adenoma / 대한내과학회지

Gardners syndrome is a single gene disorder with variable manifestations associated with the adenomatous polyposis coli (APC) gene; including gastrointestinal polyposis and osteomas associated with a variety of benign soft tissue tumors and other extraintestinal manifestations. Infrequently associated tumors include papillary carcinoma of the thyroid, biliary neoplasia and adrenal neoplasia, both benign and malignant. It is classified as a variant of classic familial adenomatous polyposis (FAP) and is an autosomal dominant disease. The incidence of incidentaloma in FAP patients is known to be higher than general population. The occurrence of an adrenal carcinoma could affect a patient's prognosis with Gardners syndrome. Increased awareness of this lesion is important in patients with Gardners syndrome who have extended lifespan after prophylactic colectomy. We report a 37 year old case of Gardners syndrome associate with adrenal adenoma.

Atypical Congenital Hypertrophy of the Retinal Pigment Epithelium in Gardner's Syndrome

Congenital hypertrophy of the retinal pigment epithelium (CHRPE)is a well circumscribed, flat, pigmented fundus lesion that have a variety of shapes. It is the most common extracolonic manifestation of Gardner's syndrome. The number and shape of CHRPE should arouse suspicion of increased risk of polyposis.We experienced one case of Gardner's syndrome in a family history of colonic carcinoma that showed atypical congenital hypertrophy of the retinal pigment epithelium, osteoma, epidermal cyst and polyposis combined with colonic carcinoma.A total colectomy and ileostomy were performed.So we reported it with the review of literature of clinical value of CHRPE as a predictive marker of Gardner's syndrome.