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.

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.

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.

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.

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.

Diffuse abdominal uptake of technetium-99m-HDP after colectomy in Gardner's syndrome.

A 37-yr-old man presented with increasing abdominal girth and multiple palpable intra-abdominal masses 3 yr after colectomy for polyposis coli. Whole-body skeletal scintigraphy performed prior to laparotomy demonstrated diffuse abdominal uptake of 99mTc-HDP consistent with mesenteric fibromatosis confirmed at surgery. When diffuse abdominal uptake of skeletal imaging agents occurs in patients with prior colectomy for polyposis coli, mesenteric fibromatosis as a manifestation of Gardner's syndrome should be suspected. This case illustrates another cause of diffuse abdominal uptake of skeletal imaging agents.

Complete regression of colonic adenomas after treatment with sulindac in Gardner's syndrome: a 4-year follow-up.

A 22-year-old woman with Gardner's syndrome in whom long-term sulindac therapy, without surgical treatment, was effective in inducing complete regression of colonic adenomas is reported. One hundred milligrams of sulindac was administered twice daily after endoscopic polypectomy. Follow-up colonoscopy 6 months later revealed an encouraging regression of colonic adenomas. The tumors had disappeared after 40 months of sulindac treatment. A sustained effect was identified even after 51 months. Ten milligrams of famotidine was coadministered to prevent side effects of sulindac. Although the effect of sulindac on colorectal adenomas may be transient, this therapy may be useful for postponing prophylactic colectomy, especially for the sparse type of familial adenomatous polyposis.

Unfamiliar aspects of familial polyposis coli.

Patients with familial polyposis coli or Gardner's syndrome are at risk for a variety of extracolonic manifestations. In a series of patients followed at the University of Washington, we have found several recurring and unusual manifestations, including upper gastrointestinal polyposis, small bowel obstruction secondary to desmoid tumors or adhesions, recurring pancreatitis, and adenoma of the papilla of Vater. In one family with familial polyposis only, a set of twins had different manifestations; one twin had familial polyposis only, whereas the second had classic extracolonic manifestations of Gardner's syndrome. Multiple rectal adenomas developed in a woman with an ileorectal anastomosis with each of three pregnancies. Spontaneous regression occurred after each delivery. Multiple rectal adenomas developed in her daughter on two occasions while taking birth control pills. Physicians caring for these patients should look for such manifestations.

[The radiological and clinical features of Gardner's syndrome (author's transl)]. / Röntgendiagnostik und Klinik des Gardner-Syndroms.

Gardner's syndrome, completely expressed, consists of a trio of familial polyposis of the colon, osteomas and mesenchymal tumours of the skin. Inheritence is autosomal dominant. In many patients with familial polyposis of the colon, only mesenchymal skin tumours or osteomas can be demonstrated. It is therefore possible that Gardner's syndrome and familial polyposis represent two extremities of a single disease which is characterised by marked variability in the expressivity of the gene. Gardner's syndrome has been considered a rare condition occurring in only about 8% of patients with familial polyposis. Amongst the 20 patients with colonic polyposis from eleven families, mesenchymal and/or osseous lesions were found in seventeen (85%). Osteomas of the mandible were shown particularly frequently by orthopantomography. Since polyposis of the colon tends to remain symptomless for many years, the finding of osteomas in the facial skeleton, or recurrent skin tumours in young patients, should lead to further investigation.

The Gardner syndrome.

The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. A case of a 17-year-old male is presented who complained of painless and hard swellings on the angle of the mandible bilateraly. The patient presented the original triad of lesions of the Gardner syndrome. On the panoramic X-ray, characteristic radio-opaque lesions (exostoses and enostoses) on the jaws were shown and a compound odontoma was detected in the left side of the mandible.

Natural course of jaw lesions in patients with familial adenomatosis coli (Gardner's syndrome).

Twenty-three patients suffering from familial adenomatosis coli (FAC) were followed for an average of 7 years (0.11-16.11 years). In 22 patients, jaw lesions including osteomas and/or odontomas were present at the first examination. In 12 patients, some changes occurred; that is, the number and size of the lesions increased. These findings indicate that changes of jaw lesions in FAC patients occur gradually even in adulthood.

Gardner's syndrome: a case report.

Gardner's syndrome (GS) is a dysplasia characterized by neoformations of the intestine, soft tissue, and osseous tissue. Because extra-intestinal manifestations, in particular osteomas, appear promptly even in infants affected with the syndrome and because of the possibility of malignant degeneration, the presence of osteomas necessitates regular surveillance to promptly diagnose the development of an intestinal polyposis typical of GS. This study describes a case of GS diagnosed merely upon suspicion of the existence of the syndrome in a patient who came to our Emergency Department. The study also emphasizes the importance not only of carrying our regular surveillance investigations to ascertain the presence of GS (colonoscopy), but also studying the relatives of any patient with GS, in light of the fact that this particular dysplasia is transmitted genetically.

Multiple radiopaque masses in the jaws.

In this report, the less common oral findings occurring in Gardner's syndrome are described, which occurred concurrently with colorectal polyposis. In addition, what clinically appeared as small intestinal polyps, microscopically represented nodular lymphoid hyperplasia, as reported in the literature. Review of the literature showed the oral findings reported here are not common and that enzyme assays can help detect polyps at an early stage of this complex syndrome.

Gardner's syndrome. Case report and discussion of the manifestations of the disorder.

Extracolonic manifestations of Gardner's syndrome are common and may precede the detection of colonic polyps. Tc-MDP bone scintigraphy performed on a patient with Gardner's syndrome demonstrated intense uptake of radiotracer within the maxilla and mandible as a result of the dental anomalies associated with this disorder. Nuclear scintigraphy has a role in the imaging of these patients for skeletal anomalies, the detection of thyroid carcinoma, and for skeletal metastases when colon carcinoma is detected.

Gardner's dento-maxillary stigmas in patients with familial adenomatosis coli.

Fifty patients with familial adenomatosis coli (FAC) studied by panoramic tomography (PTG) showed osteomatous jaw changes in 82% as compared with 10% in matched controls. Supernumerary teeth, compound odontomas and/or impacted teeth were seen in 30% of the patients compared with 4% of the controls. A correlation was found between dental abnormalities and the large number of osteomas. The results support the view that both osteomas of the jaws and dental abnormalities are features of FAC. PTG of the jaws may serve as a valuable tool for early detection of FAC by oral surgeons, at least in the case of the most striking changes (about 20%).

[Gardner syndrome--on the basis of three cases]. / A Gardner-szindrómáról több eset kapcsán.

Based on the 3 cases, the authors describe the Gardner-syndrome which is not so well-known in Hungary. The most important features of the Gardner syndrome are the malignized large intestine polyposis, the multiplex osteomies and the different skin tumours. The earliest symptoms suspecting the clinical picture, are usually dental and/or mandibular lesions. Being aware of the above mentioned facts the dentist noticing the symptoms first is highly responsible.

[Desmoid tumor and Gardner syndrome]. / Tumeur desmoïde et syndrome de Gardner.

A desmoid tumor was found in a patient with Gardner's syndrome. The tumor was visualized by CT before and after contrast injection, by radiographic examination of the small bowel, and by sonography. CT demonstrated a heterogeneous mass in the left lower abdomen with attenuation values ranging from 23 to 72 HU on native scans, enhancing to 123 up to 172 HU after injection of contrast medium. This examination also demonstrated the extent of the tumor and its exact dimensions. The radiographic examination of the small bowel completed the diagnosis and showed no involvement of the small bowel. This diagnosis was confirmed by laparotomy.