Síndrome de Gardner: informe de un caso y revisión de la literatura / Gardner syndrome: case report and literature review

El síndrome de Gardner es una enfermedad genética de herencia autosómica dominante, presenta múltiples manifestaciones craneofaciales caracterizadas por hipercrecimientos óseos conocidos como osteomas, riesgo de desarrollo de pólipos gastrointestinales con alto potencial de malignidad y de tumores o quistes en piel, así como alteraciones dentales, entre las que destacan la presencia de dientes supernumerarios, retenciones dentarias, permanencia de dientes deciduos y odontomas, estas últimas de gran importancia para el odontólogo. Se trata de una enfermedad que afecta a mujeres y hombres de forma indistinta, no obstante, su prevalencia es mayor en el sexo femenino. El objetivo del presente artículo es explicar las manifestaciones clínicas y radiográficas dentales y craneofaciales del síndrome de Gardner mediante la presentación de un caso clínico y revisión de la literatura (AU)

Gardner syndrome is a genetic disease of autosomal dominant inheritance, it presents multiple craniofacial manifestations characterized by bone overgrowths known as osteomas, risk of development of gastrointestinal polyps with high potencial of malignancy, and skin tumors or cysts, as well as dental alterations, among the characteristics of the presence of supernumerary teeth, dental retention, permanence of deciduous teeth and odontomas, the latter of great importance for the dentist. It is a disease that affects women and men indistinctly, however, its prevalence is higher in the female sex. The aim of this article is to explain the dental and craniofacial clinical and radiographic manifestations of Gardner syndrome by presenting a clinical case and a review of the literature (AU)

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)

Síndrome de Gardner-Diamond. Presentación de un caso / Gardner-Diamond syndrome: A case report

RESUMEN El sindrome de Gardner- Diamond conocido también como púrpura psicógena o síndrome de autosensibilización eritrocitaria es muy poco frecuente. Se presenta el caso de un hombre de 50 años, blanco, ingresado en el Servicio de Medicina Interna del Hospital Clínico Quirúrgico Docente "Faustino Pérez Hernández" por síndrome febril agudo, cefalea holocraneana, epistaxis y hemolacria. En el examen físico realizado se notó la salida de lágrimas con sangre, por el ángulo interno de ambos ojos y epistaxis. La inyección intradérmica en la cara dorsal del muslo izquierdo de 0,1 mL de sangre autóloga, no indujo reacción equimótica. La inyección de 0,1 mL de solución salina al 0,9 % como control en el muslo contralateral resultó negativa. Sobre la base del examen clínico y otras pruebas, se concluyó como un Síndrome de Gardner-Diamond. Esta infrecuente enfermedad debe ser considerada en el diagnóstico diferencial de un síndrome purpúrico de etiología no bien precisada, fundamentalmente en pacientes con problemas psiquiátricos.

ABSTRACT The Gardner-Diamond syndrome, also known as psychogenetic purpura or erythrocyte autosensitization syndrome is very few frequent. The case of a white patient aged 50 years is presented. He entered the Service of Internal Medicine of the Teaching Clinic-surgical Hospital "Faustino Pérez Hernández" because of an acute fever syndrome, holocraneal headache, epistaxis and haemolacria. At the physical examination it was stated the flow of tears with blood, through the internal angle of both eyes and epistaxis. The intradermal injection of 0.1 ml of autologous blood in the left thigh dorsal side did not induce an ecchymotic reaction. The injection of 0.1 ml of 0.9 % saline solution as control in the contralateral side was negative. On the basis of the clinical examination and other tests, the authors arrived to the conclusion it is a Gardner-Diamond syndrome. This infrequent disease should be considered in the differential diagnosis of a purpuric syndrome of non-good précised etiology, mainly in patients with psychiatric problems.

Imaging of Thoracic Wall Abnormalities

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.

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

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)

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.

Tumores e hiperplasias adrenocorticais: identificação de possíveisdoenças hereditárias / Recognition of hereditary diseases related to adrenocortical tumors andhyperplasias

A alta prevalência de tumores da glândula adrenal deve-se, em parte, ao avanço dos métodos de imagem. Os adenomas, carcinomas e hiperplasias oriundos do córtex adrenal são responsáveis por 80 a 90% dos processos tumorais. Alguns casos são herdados e podem estar associados a efeito compressivo de massa tumoral, hipersecreção de esteroides ou manifestações clínicas em outros órgãos. Considerando as hiperplasias e tumores adrenocorticais, o objetivo desse trabalho foi auxiliar os médicos na identificação de pacientes que apresentem risco para doença hereditária. As neoplasias e hiperplasias adrenocorticais podem ser encontradas em síndromes hereditárias, como a síndrome de Li-Fraumeni, síndrome de Beckwith-Wiedemann, neoplasia endócrina múltipla do tipo I, síndrome de Gardner e no complexo de Carney. A hereditariedade também está associada com doenças adrenocorticais na hiperplasia adrenal congênita, no aldosteronismo primário e/ou na síndrome de Cushing (doença clínica ou subclínica) na hiperplasia adrenal macronodular primária. Essa revisão descreve as características clínicas e os defeitos genéticos responsáveis pelas síndromes hereditárias. Relacionamos também a classificação histopatológica dos processos expansivos com os principais sinais clínicos e os genes relacionados. A identificação de defeitos genéticos em células germinativas nessas doenças familiais permite o conhecimento de alterações somáticas em alguns tipos de processos tumorais adrenocorticais de etiologia esporádica. Considerando a prevalência dos tumores do córtex adrenal, a identificação de predisposição hereditária é essencial para assegurar a conduta clínica correta do paciente e o aconselhamento genético de seus familiares.

The adrenal gland tumors are prevalent due in part by the widespread use of imaging studies. Adenomas, carcinomas and hyperplasias, originating from the adrenal cortex, account for 80-90% of adrenal tumoral processes. Some cases are inherited and may be associated with local mass effect, steroid hypersecretion and/or clinical manifestation in other organs. In the context of adrenocortical tumors and hyperplasias, the purpose of this article is to assist physicians in identifying patients who may be at risk of hereditary diseases. Adrenocortical hyperplasias and neoplasias can be found in familial tumor syndromes, such as Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia type 1, Gardner syndrome and Carney complex. Heredity has been also associated with adrenocortical lesions in congenital adrenal hyperplasia, primary aldosteronism and/or Cushing syndrome (overt or subclinical disease) in primary macronodular adrenal hyperplasia (PMAH). This review describes the clinical recognition and genetic defects that have been found to be responsible for these hereditary diseases. Furthermore, we present the histopathologic classification of adrenocortical expansive processes in correlation to the main clinical features and related genes. The identification of germline genetic defects in such familial diseases lead to the identification of somatic alterations in a subgroup of sporadic adrenocortical lesions. Considering the prevalence of adrenocortical tumors, identification of a hereditary predisposition is essential to assure the adequate clinical management of the patient and to offer the genetic counselling to family members.

Múltiples osteomas en región cráneo maxilofacial. Reporte de dos casos / Osteomas multiple in the craniofacial región. Report of two cases

Los osteomas son lesiones benignas de crecimiento lento, progresivo, asintomáticas (salvo que por su tamaño afecten a estructuras adyacentes), localizadas frecuentemente en el esqueleto cráneo facial, de etiología poco clara, presentes a cualquier edad y sin predilección de género. Suelen ser solitarios o múltiples, a menudo asociados al Síndrome de Gardner. Para el diagnóstico se requiere de una evaluación clínica, imagenológica e histopatológica, su tratamiento dependerá de los problemas estéticos o funcionales que causen, el cual consiste en la remoción quirúrgica y la osteotomía modeladora. El propósito de este reporte, es dar a conocer dos casos de pacientes de diferente género y edad, que acudieron a la Unidad de Estomatología y Cirugía Buco-Maxilofacial del Hospital de Clínicas Universitario (La Paz-Bolivia), quienes presentaron osteomas múltiples en la región craneomáxilofacial, sin evidencia clínica (al momento del examen) de manifestaciones intestinales y cutáneas por lo que se estableció que no estuvieron asociados al Síndrome de Gardner. El tiempo de evolución, la poca frecuencia de reportes de lesiones múltiples en nuestro país (Bolivia), la alteración estética y funcional debido a las grandes dimensiones alcanzadas, ya que requirieron una intervención quirúrgica para su resolución, nos lleva a la presentación de estos casos...

The osteomas are a group of slow growth, progressive and asymptomatic benign lesions (except for its size affect adjacent structures), these lesions are located in the skull and facial bones, of unclear etiology, they can appear at any age without genre predilection. They can be found alone or can be multiple, frequently associated Gardner Syndrome. To make a correct diagnostic requires clinical, imaging and histopathological assessment. Treatment depends on the aesthetic or functional problems that may cause, consisting in surgical removal and styling ostheotomy. The purpose of this report is to present two patient cases of different genre and age, attending la Stomathology and Oral and Maxillofacial Surgery Unit of the Hospital Clinicas (La Paz-Bolivia) with multiple osteomas at craniomaxillofacial region, without clinical manifestations when intestinal and cutaneous evidence therefore states that it is not associated with Gardner syndrome; time evolution, infrequently reported multiple injuries in our country, esthetic and functional alteration due to the large size reached, requiring surgical intervention for resolution, leads to the presentation of these cases...

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.

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)

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)

Supernumerary teeth in non-syndromic patients

Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

A Case of Ectopic Tooth with Superimposed Fungal Infection in Nasal Cavity of Cleft Lip and Palate Patient / 대한이비인후과학회지

Ectopic teeth (ET) occur in a wide variety of sites such as palate, mandibular condyle, coronoid process, orbit, maxillary antrum and nasal cavity. To date, the precise etiology of ET is still unknown. Although ET can be present in patients without any associated syndrome or development anomaly, it can be frequently associated with cleft lip, palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and etc. The Candida species are yeast fungi, which are pathogenic saprophytes, but the infection of the nose and sinuses is rare. We report a case of cleft lip and palate patient presenting with a history of foul odor, who was found to have an ectopic tooth in the nasal cavity with superimposed candidal infection.

Osteomas múltiples faciales asociados a síndromede Gardner / Facial multiple osteomas associated with Gardner syndrome

Los osteomas faciales son una de las manifestaciones extracolónicas del síndrome de Gardner que pueden preceder la aparición de los pólipos intestinales. La ubicación más frecuente es en laregión mandibular, aunque pueden afectar otros huesos de la cara. Pese a ser lesiones benignaspueden crecer de manera exagerada y requerir tratamiento quirúrgico. Se describe el caso deuna mujer de 16 años que presentó osteomas múltiples en la cara.