A role for total alloplastic temporomandibular joint replacement in Gardner syndrome.

Gardner syndrome (GS) is a rare autosomal dominant disorder that can present with craniomaxillofacial abnormalities. The identification of osteomas or craniomaxillofacial abnormalities can therefore serve as a marker of this condition, facilitating early referral and diagnosis. A 17-year-old female with GS was referred for the management of severe limited mouth opening, causing a major problem for routine endoscopy to monitor the gastrointestinal alterations of GS. Clinical and radiological evaluations showed multiple osteomas in the mandibular angle, condylar and coronoid regions bilaterally and maximum mouth opening of 8 mm. The patient underwent surgery for osteoma removal and bilateral customized alloplastic total temporomandibular joint replacement (TMJ-TJR). At the 2-year follow-up, the patient showed improvements in quality of life, with a maximum mouth opening of 34 mm, allowing routine upper endoscopy to be performed. This is the first report of GS, a rare and challenging craniomaxillofacial abnormality, treated with TMJ-TJR. A comprehensive overview of the patient's clinical presentation, diagnostic assessment, treatment planning, and outcomes is provided.

Superior vena cava syndrome due to mediastinal Gardner fibroma presenting as syncope.

Superior vena cava (SVC) syndrome refers to the clinical manifestation due to an obstruction in the SVC; resulting in decreased venous return from the head, neck and upper extremities. The obstruction can occur either due to tumour invasion of the vessel wall with associated thrombus or due to vessel wall compression by the tumour mass. The patient being reported is a young male who presented with recurrent episodes of syncope and was found to have mediastinal Gardner fibroma causing SVC syndrome. Gardner fibroma is a benign soft tissue lesion; and its occurrence in the mediastinum resulting in SVC syndrome has not been reported yet.

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 (AU).

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 (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.

Maxillofacial Radiographic study of Gardner's syndrome presenting with odontogenic myxoma: A rare case report.

Gardner syndrome is an autosomal dominant disease. It is characterized by a combination of familial adenomatous polyposis (FAP) of the intestine with extraintestinal changes as multiple osteomas and fibromas. Odontogenic Myxoma is a benign, aggressive intraosseous neoplasm. We report a rare case of a 14-year-old male patient with Gardner's syndrome and odontogenic myxoma, which involved the entire left half of the mandible, resulting in a gross facial deformity, within a span of one year.

Attenuated adenomatous polyposis of the large bowel: Present and future.

Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations. AAP may be diagnosed as a single case in a family or, less frequently, it may be present in other family members, and it shows distinct pattern of inheritance. In less than 50% of cases, it may be caused by adenomatous polyposis coli (APC) or MUTYH mutations, referred to as APC-associated polyposis, inherited as an autosomal dominant trait, or MUTYH-associated polyposis, which shows an autosomal recessive mechanism of inheritance, respectively. Surveillance should rely on colonoscopy at regular intervals, with removal of adenomas and careful histological examination. When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. Studies on this syndrome are lacking, and controversies are still present on many issues, thus, other clinical and genetic studies are requested.

External manifestations of Gardner's syndrome as the presenting clinical entity.

Gardner's syndrome is an autosomal dominant disease characterised by the presence of colonic polyposis, osteomas and a multitude of soft tissue tumours. Pathological features such as osteomas of the mandible, skull and facial skeleton are unaesthetic as well as incapacitating. We present the case of a 22-year-old man with pain and discharge from the left eye and a firm swelling in the left infraorbital region leading to proptosis of the left eye. A detailed examination of the patient led to the presence of a large osteoma in the left orbital region, multiple cystic lesion, corneal opacity and parapapillary atrophy in the left eye. Radiography revealed the presence of multiple unerupted supernumerary teeth and osteomas. Colonoscopic findings showed the presence of multiple polyps. Thus, external manifestations of the patient's facial region led to the establishment of the diagnosis of Gardner's syndrome. The importance of our case highlights the necessity of maintaining a high vigilance with regard to the occurrence of such an entity.

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.

Osteomas involving the facial skeleton: a report of 2 cases and review of the literature.

Osteomas are benign slow-growing tumors. These lesions are essentially restricted to the craniofacial skeleton and rarely diagnosed in other bones. The etiology is often multifactorial. It could be genetic or congenital, (Gardner syndrome) or related to endocrine disorders, chronic inflammatory processes, or traumas. In this work, the authors wanted to illustrate the correlation between the presence of multiple osteomas in the craniofacial skeleton and Gardner syndrome to underscore the importance of the role of the oral surgeon in the early identification of this pathology. Malignant evolution of intestinal lesions arising from Gardner syndrome can be avoided if diagnosed in an early stage. Two significant clinical cases are described and discussed. In the first one, a diagnosis of Gardner syndrome was made after colonoscopy.

Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years.

PURPOSE: Screening of Gardner syndrome (GS) patients is tailored towards prevention of colorectal cancer (CRC). However, many patients suffer from desmoid tumors, which are challenging to treat due to invasive growth and local recurrence. The aims of our study were to determine the effectiveness of screening in GS and analyze outcome of desmoid tumors by treatment modality. METHODS: This was a cohort study of a family of 105 descendants with GS. All family members who agreed were screened by endoscopy, and colorectal resection was performed upon pending malignancy. Resectable desmoids were excised, whereas large tumors were treated by a combination of brachytherapy (BT) and radiotherapy (RT). Main outcome measures were the incidence of CRC and overall and disease-specific mortality (ClinicalTrial.gov ID NCT01286662). RESULTS: Thirty-seven of 105 family members have GS. Preventive colorectal resections were performed in 16 patients (15 %), with one death due to gastric cancer. In four patients who denied screening endoscopy, invasive tumors of the colon (three patients) and stomach developed. Of 33 desmoid tumors, 10 (30 %) were located in the mesentery, 17 (52 %) in the abdominal wall, and 6 (18 %) in extra-abdominal sites. Excision of 12 desmoids was performed in eight patients. Four desmoids were treated by BT and RT and showed full or partial remission. CONCLUSIONS: Provided adequate screening, good long-term control of colorectal tumors is achievable. However, desmoid tumors determine survival and quality of life in many patients. Our data suggest good local control using a combination of brachytherapy/radiotherapy in large desmoids unsuitable for surgical resection.

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)

Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas.

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps and extraintestinal manifestations. The extraintestinal manifestations include multiple osteomas, connective tissue tumors, thyroid carcinomas, and hypertrophy of the pigmented epithelium of the retina. Osteoma is a benign neoplasm of bone tissue characterized by slow continuous growth that usually affects the long bones and cranial bones and is a major symptom for Gardner syndrome. The authors report the extraintestinal lesions affecting the maxillofacial regions in 2 male patients (father and son) with Gardner syndrome. The presurgical planning and surgical management of these lesions are described.

The role of Cone beam CT in the evaluation and management of a family with Gardner's syndrome.

Gardner's syndrome (GS) is a hereditary autosomal dominant disease of the colon that presents with extra-colonic manifestations such as osteomas, skin lesions and dental abnormalities. Osteomas are commonly found in the skull, jaws and the paranasal sinuses. We present a family of four sisters affected with GS with a wide range of anomalies. The role of Cone beam computed tomography (CBCT) in the early detection and evaluation of osteomas and dental anomalies with precise assessment of their relationship to adjacent anatomic structures is described here in detail. The careful interpretation of CBCT may be of a great value in surgical and orthodontic treatment planning in the presence of jaw lesions. Management of dental problems in GS may be challenging due to the presence of odontomas and increased bone density. A multidisciplinary approach in the management of GS can achieve the best treatment results.

Radiographic assessment of Gardner's syndrome.

The detection of osteomas in the maxillofacial region may be the initial clinical finding in Gardner's syndrome (GS). The most common location of osteomas is in the skull, but the lesion can also occur in the jaws. We present a case of a 47 year old male patient with GS who was referred for radiological evaluation. Extraoral examination revealed an epidermoid cyst and the patient had a history of intestinal polyps. A panoramic radiograph demonstrated numerous osteomas and diffuse sclerosis of the mandible, and compound odontomas with impacted teeth. CT scan allowed the localization and extension of the osteomas, and showed other sites in the maxillofacial region as well. CT images also revealed a different behaviour of osteoma, invading the mandibular canal.

Ureteral reconstruction and bladder augmentation using intestinal allograft in a modified multivisceral transplant patient.

Segments of ileum are used as conduits following ureteral resection and for bladder augmentation to achieve adequate bladder capacity. We herein report the use of a segment of transplanted ileum for this purpose in a patient with Gardner's syndrome who underwent multivisceral transplantation. To our knowledge this is the first such case report.