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Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province. The family members underwent a comprehensive survey, which involved collecting clinical data and peripheral venous blood samples. The samples were then used for genetic analysis. Whole exome sequencing (WES) and Sanger sequencing techniques were utilized to screen and identify specific mutation sites in the APC gene. The clinical findings for the GS family included the presence of gastrointestinal polyps and odontomas. After analyzing the genetic sequencing results, a novel mutation site c.4266dupA on the APC gene was found in the patients, which leading to the APC protein truncation. As a result of this study, it is suggested that odontoma may be an early indicator of GS. Additionally, the identification of this novel mutation site in the APC gene expands the known spectrum of genetic mutations associated with the disease. This discovery has significant implications for the early diagnosis of GS, thus enabling timely intervention to reduce the risk of developing colon cancer and other related diseases., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Gardner syndrome (GS) is a rare genetic disorder characterized by numerous intestinal colon polyps with various extraintestinal manifestations. Osteomas are a known extracolonic manifestation of GS and can affect the orbit, as seen in our patient, as well as 13 other cases documented in literature. Excision of large orbital osteomas can be successful with a multi-disciplinary approach as presented in this article. Ophthalmologists can even be the first to diagnose GS, usually via the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) lesions. Untreated, 100% of colon polyps will transform into cancer, thus it is important to be aware of this rare syndrome with ophthalmic manifestations and screen patients with osteomas for GS.

Background: Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case., Case Presentation: A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks' gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm 2 in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year., Conclusions: Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

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., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: Gardner's syndrome is a variant of familial adenomatous polyposis, characterized by gastrointestinal polyps, multiple osteomas, and skin and soft tissue lesions. Diagnosis by means of an understanding of its various symptoms is of great importance., Case Reposrt: This report presents the case of a 32-year-old man with obvious asymmetry and disfigurement on his face, due to multiple osteomas and soft tissue lesions. These clinical signs prompted us to further investigation, leading to the diagnosis of a case of Gardner's syndrome, with asymptomatic polyposis of the colon. Polyps have virtually an almost 100% risk of undergoing malignant transformation., Conclusion: Early diagnosis and treatment of this pathological entity are crucial, while the presence of osteomas should alert us to this diagnosis., (Copyright © 2019 by Academy of Sciences and Arts of Bosnia and Herzegovina.)

An extensive 35 × 20 cm sized full-thickness abdominal wall defect was created after resection of aggressive abdominal fibromatosis in a 19-year-old male patient. Immediate reconstruction was not possible due to prolonged operation time and resulting severe bowel edema. A silicone sheet with NPWT was applied over the exposed viscera. After 1 week, silicone sheet was substituted with a composite mesh. Then, abdominal wall reconstruction with bilateral free anterolateral thigh (ALT) flaps (30 × 12 cm and 25 × 12 cm sized) was performed. Since there was only a single reliable recipient vessel available, we linked 2 ALT free flaps sequentially in a flow-through fashion to the left inferior epigastric artery and vein. Two donor sites were closed primarily. The flap fully survived and the defect was covered successfully without any complication for 11 months of follow up. Multiple flaps may be needed for large full-thickness abdominal wall defect coverage. Linked fasciocutaneous free flaps could be a solution with a less donor site morbidity even in the case of limited available recipient vessels. The purpose of this study is to introduce our experience of extensive full-thickness abdominal wall reconstruction using only ipsilateral deep inferior epigastric vessels., (© 2017 Wiley Periodicals, Inc.)

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. GS is extensively reported in literature in the Caucasian race but not in the Mongoloid race. We report a case of a 22-year-old patient with a manifestation of three features of GS - multiple osteomas, soft tissue tumors and dental anomalies in the craniofacial region, with no intestinal polyps at the time of reporting. A family pedigree with our patient as the proband was constructed and revealed 3 consecutive generations in his lineage with GS., (© 2018 médecine/sciences – Inserm.)

We present the first case of upper airway obstruction secondary to a retropharyngeal Gardner-associated fibroma (GAF). A 16-month-old infant presented with a 3-month history of worsening dyspnoea and apnoeic episodes. Examination revealed stridor and left-sided retropharyngeal asymmetry. MRI demonstrated a mass in the retropharynx. Tracheostomy and pharyngeal biopsy under anaesthesia were performed, and histology confirmed a diagnosis of GAF. The mass was excised using a transcervical approach, and postoperative recovery was unremarkable. GAF is associated with Gardner's syndrome (GS) and familial adenomatous polyposis (FAP), both of which are associated with multiple colonic polyps and increased risk of colorectal malignancy. Subsequent testing for an APC mutation seen in GS and FAP was negative in our patient. The details of this unusual presentation of a rare disease are given in addition to a review of the literature., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.)

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.

A hybrid cyst is a cutaneous cyst combining different types of keratinization of those seen in the folliculo-sebaceous-apocrine unit. Previous reports found that it may be occasionally associated with Gardner syndrome. This study aimed to clarify the pathologic findings and clinical significance of hybrid cyst based on case series observations. We retrospectively reviewed patients who fulfilled the pathological criteria of hybrid cyst from 2001 to 2015. The patient profiles, clinical presentations, pathological findings, and associated diseases were analyzed by reviewing the medical records and slides. A total of 71 hybrid cysts were confirmed over the study period. There were 12 pathologic variants. The most frequent variant was combined infundibular cyst and tricholemmal cyst (22 in 71 cases, 30%), followed by infundibular cyst and pilomatricoma (14 in 71 cases, 19%). There was no significant association between sex, age, or site and the pathological type of hybrid cyst. Neither extra-intestinal manifestation nor a family history of Gardner syndrome was found in any case. Hybrid cysts could contain a variety of combinations of components from the folliculo-sebaceous-apocrine unit. No clinical significance was found between demographics and the type of hybrid cyst. No association with Gardner syndrome was identified in this case series.

Gardner syndrome (GS) is caused by mutations in the APC and besides adenomatous colorectal polyps includes such manifestations as osteomas, epidermoid cysts (ECs) and occasionally multiple pilomatricomas. More than 50 % of ECs in patients with GS exhibit pilomatricoma-like ghost cell keratinization. The latter may be explained by the fact that the development of both GS and pilomatricoma is driven by activation of the Wnt/β-catenin signaling pathway. A 62-year-old, Caucasian male with history of GS presented with a unilocular, mixed radiopaque/radiolucent mandibular lesion causing divergence and external root resorption of involved teeth. Histopathologically, the lesion was composed of two cystic components, an orthokeratinized odontogenic cyst (OOC) and a smaller one with characteristics of keratocystic odontogenic tumor (KCOT) featuring, focally, ghost cells and an epithelial morule-like structure. Dystrophic calcifications essentially similar to those seen in pilomatricomas were observed in the fibrous connective tissue wall. The KCOT and OOC epithelia revealed strong and diffuse cytokeratin (AE1/AE3) and β-catenin immunoreactivity. CD10 positive immunostaining was seen in the keratin and superficial spinous cell layers in both OOC and KCOT. The intraepithelial and mural ghost cells showed a cytokeratin (+), β-catenin and CD10 (-) immunophenotype. The diagnosis of OOC with ghost cell calcifications in association with KCOT was rendered. The patient was lost to follow-up. Although a coincidental co-existence cannot be excluded, ghost cell calcifications mimicking pilomatricoma-like changes in an unusual odontogenic cyst combining OOC and KCOT features as seen in this patient with GS may be explained by the common molecular mechanisms underlying the pathogenesis of cutaneous pilomatricomas and GS.

Introduction: Desmoid tumors are rare proliferative and invasive benign lesions. They can be sporadic, but in most instances, desmoid tumors develop in the context of Gardner's syndrome with principal localization in the abdominal cavity and abdominal wall., Case-Report: We report the case of a 24-year-old female presenting Gardner's syndrome with a symptomatic abdominal wall desmoid tumor. Lack of response to medical treatment led to surgical management consisting in a complete resection and parietal reconstruction with a biologic mesh. Postoperative course was uneventful and there was no evidence of recurrence at 12 months of follow-up., Discussion: Conventional treatment of abdominal wall desmoid tumors consists in a wide and radical resection. However, complete resection is not always feasible because of difficulty to differentiate the desmoid tumor from adjacent tissues. The surgical approach may require different techniques to repair the parietal defect including prosthetic material such as synthetic or biologic meshes. Biological mesh is an ideal alternative to synthetic graft, mainly in case of infection., Conclusion: We have encountered a case of a symptomatic growing desmoid tumor of the abdominal wall in a young patient with Gardner's syndrome, successfully treated by complete resection and reconstruction with a biologic mesh to correct the parietal defect.

Background: A minority of intra-abdominal desmoid tumors is associated with Gardner's syndrome in which desmoid tumors become an important cause of morbidity and mortality if they are surgically unresectable., Case Presentation: Here, we report two cases of intestinal perforation during chemotherapy in patients with Gardner's syndrome-associated intra-abdominal desmoids. One female and one male patients who developed inoperable desmoids were given the chemotherapeutic regimen of doxorubicin plus dacarbazine, followed by meloxicam. Significant tumor regression was observed clinically. However, intestinal perforation happened in both patients. They were subjected to emergency surgery, follow-up management, and survived up to now., Conclusions: The doxorubicin plus dacarbazine chemotherapy is an effective treatment for intra-abdominal demoid tumors in patients with Gardner's syndrome. On the other hand, given severe adverse events might occur, clinicians should pay more attention that tumor quick regression may cause intestinal perforation in which urgent surgical intervention is necessary.

Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Ectopic craniopharyngioma is uncommon and a craniopharyngioma confined purely within the fourth ventricle is extremely rare. We report a craniopharyngioma of the fourth ventricle in a 20-year-old man with Gardner syndrome. Imaging characteristics of craniopharyngiomas and fourth ventricle lesions are discussed with a review of the literature regarding the pathogenesis of craniopharyngiomas and the possible association with Gardner syndrome., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Familial adenomatous polyposis (FAP) or Gardner's syndrome is often accompanied by adenomas of the stomach and duodenum. We experienced a case of adenomas of the common bile duct in a 40-year-old woman with FAP presenting with acute cholangitis. Only 8 cases of adenomas or adenocarcinoma of the common bile duct have been reported in the literature in patients with FAP or Gardner's syndrome. Those patients presented with acute cholangitis or pancreatitis. Local excision or Whipple procedure may be the reasonable surgical option.

Desmoid tumours are benign, myofibroblastic stromal neoplasms common in Gardner's syndrome, which is a subtype of familial adenomatous polyposis characterized by colonic polyps, osteomas, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The primary treatment is surgery, followed by adjuvant radiotherapy, but the local recurrence rate is high, and wide resection can result in debilitating loss of function. We report the case of a 39-year-old man with Gardner's syndrome who had already undergone a total prophylactic colectomy. He developed desmoid tumours localized in the mesenteric root, abdominal wall and dorsal region, which were treated from 2003 through 2013 with several surgical procedures and percutaneous radiofrequency ablation. In 2008 and 2013, RFA was applied under ultrasonographic guidance to two desmoid tumours localized in the dorsal thoracic wall. The outcomes were low-grade pain and one case of superficial skin necrosis, but so far there has been no recurrence of desmoid tumours in these locations. Surgical resection remains the first-line therapy for patients with desmoid tumours, but wide resection may lead to a poor quality of life. Radiofrequency ablation is less invasive and expensive and is a possible therapeutic option for desmoid tumours in patients with Gardner's syndrome.

The patient was a 48-year-old woman who was diagnosed with early gastric cancer during a long-term follow-up period for Gardner syndrome. Subtotal colectomy for colon leiomyoma was performed when the patient was 22 years old. Partial resection of the ileum was performed for ileum leiomyoma at the age of 27. Total resection of the remaining colon with ileostomy was performed for a pelvic desmoid tumor at the age of 40. In addition, resection of a desmoid tumor of the abdominal wall was performed 8 times in the 25 years since the first operation. During the follow-up for gastric polyps associated with Gardner syndrome, gastric cancer was detected from biopsy specimens of a wide range of the fundus polyps. Endoscopic resection was considered not to be applicable because of the extensive nature of the lesion. Total gastrectomy was also considered not to be applicable because of concerns about short bowel syndrome due to intestinal reconstruction. Therefore, proximal gastrectomy with esophagogastric anastomosis was performed. The pathological diagnosis was 0-IIa, 70 × 44 mm, tub1, m, ly0, v0, n0, PM (-), DM (-), stageIA. The postoperative course was uneventful, and the patient was discharged on postoperative day (POD) 16. We speculate that long-term survival of patients with Gardner syndrome without severe short bowel syndrome might result in carcinogenesis of gastric polyps.

A 45-year-old man presented to the emergency ward with features of intestinal obstruction of 2 days duration. On admission, there was abdominal distension and multiple sessile polyps found on digital rectal examination. In addition, a soft tissue swelling near the elbow and a bony swelling over scalp were noted. Abdominal radiography revealed gaseous distension of the small and large bowel, and ultrasound revealed diffuse, gas-filled bowel with sluggish peristalsis. The obstruction failed to resolve with conservative measures and at emergency laparotomy an irregular hard recto-sigmoid junction mass was identified. A defunctioning transverse loop colostomy was undertaken and the abdomen closed. During recovery, a colonoscopy was performed and a malignant appearing lesion was identified 15 cm proximal to the anal verge. Further per-stomal colonoscopy revealed multiple sessile polyps from the ileo-caecal valve to the descending colon. The cutaneous and abdominal findings were consistent with a rare acute presentation of Gardner's syndrome., (2014 BMJ Publishing Group Ltd.)

The authors describe a patient with an adamantinomatous craniopharyngioma (CPG) arising in the cerebellopontine angle (CPA), who also had probable Gardner's syndrome. This 31-year-old man presented with headache and dizziness. Brain CT and MRI showed a 5 × 4-cm lesion with multiple small calcifications in the left CPA. The patient underwent suboccipital craniotomy with tumor removal. Histopathological findings indicated an adamantinomatous CPG. This patient also showed characteristics of Gardner's syndrome. Although this syndrome is associated with intracranial neoplasms, it is unclear whether patients with both Gardner's syndrome and CPG are part of the heterogeneity of Gardner's syndrome.

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.

Desmoid tumor (DT) or aggressive fibromatosis is a histologically benign-appearing neoplasms of the soft tissues, arising from connective tissues, the fascial sheaths and musculoaponevrotic structures of muscles. DT is a non-metastasizing tumor but has a potential for local invasion and local recurrence. DT can be seen in all age groups including young children. The overall incidence is reported as 2-4 cases per million per year. The etiology of DT is unknown. However, a genetic predisposition, familial adenomatous polyposis and Gardner's syndrome, has been implicated in 2% of the cases. The histological diagnosis has to be confirmed by biopsy in order to eliminate other sarcomas. The clinical behavior of DT seems unpredictable with a high rate of local recurrence. Treatment depends on the aggressiveness of the disease. A "wait-and-see" strategy is, at the present time, preferred in case of asymptomatic or non-progressive disease. Complete resection after surgery is rare, that is why first-line surgery should be seriously questioned and only considered when a complete resection can be feasible without functional or cosmetic damage. If not, medical treatments (cytotoxic or not) are rather discussed. Radiation therapy is rarely an option in children in this benign tumor. Authors present accurate knowledge of this disease in children.

Background: This study was designed to investigate the clinical features and the growth rate of craniofacial osteomas., Methods: Retrospective chart review was performed of 200 cases of craniofacial osteomas diagnosed from January 2001 to September 2011. Data pertinent to patient and osteoma lesion characteristics were collected. Histology of operated cases was reviewed. Computer tomography (CT) charts were reviewed and those with multiple images were analyzed for growth characteristics., Results: One hundred forty-nine patients met our inclusion criteria. Eighty-nine percent of these osteomas were found incidentally. Forty-three percent were in the frontal sinus. Fifteen percent of the patients complained of headaches and only 6.71% of patients with osteoma had headaches congruent with osteoma location. Thirty-one percent of CT scans had sinus mucosal disease; only 8% had mucosal disease adjacent to the osteoma. Ten of the 149 patients underwent surgery for cosmetic and/or rapidly growing osteomas. Thirteen patients had intestinal tubular adenoma, and one was genetically positive for Gardner's syndrome. Fifty-two patients had multiple CT scans that were included in growth rate analysis. The mean linear growth rate of osteomas was estimated to be 0.117 mm/yr (95% CI, 0.004, 0.230) in maximal dimension, assuming linear growth. A descriptive analysis of osteoma growth divided the osteomas into several intervals and studied the growth rate separately in each interval. The median change in maximum dimension was different in each interval in a nonsystematic manner, ranging from -0.066 mm, over 3- to 9-month interval (interquartile range [IQR] = -0.404-1.069), to 0.369 mm over 9- to 15-month interval (IQR = -0.032-0.855), and 0.082 mm over 45- to 51-month interval (IQR = -0.000-0.197). There was no significant association between tumor size, location, or complications., Conclusion: Craniofacial osteomas are slow-growing lesions with no specific growth pattern and rare complications. Their clinical behavior is ill defined and justifies a conservative approach toward asymptomatic lesions with close radiological follow-up.

Gardner's Syndrome is a variant of familial adenomatosis polyposis (FAP) with a triad consisting of polyps of the colon, multiple osteomas and surface tumors of soft and hard tissue. The intestinal polyps have a %100 risk of undergoing malignant transformation, therefore early identification of this disease is very important. There are several symptoms of Gardner's syndrome in the oral and maxillofacial surgery, which can be discovered during routine dental examination. We report a case of a 25-year old male patient with Gardner's syndrome who has not any intestinal polyps but osteomas in the mandible and jaw deformalities.

Craniopharyngiomas usually involve the sella and suprasellar space. Ectopic craniopharyngiomas have rarely been reported at the cerebellopontine angle (CPA). We report a rare primary craniopharyngioma of the CPA without extension into the sellar region. The lesion was initially detected by MRI during investigation of multiple scalp fibromas. Multiple osteomas of the skull and face were detected 2years later, and colonic adenomatous polyposis was detected 4years later; typical features of Gardner syndrome. This is the third report of a primary CPA craniopharyngioma in a patient with Gardner syndrome., (Copyright © 2010 Elsevier Ltd. All rights reserved.)

The medical history of a 46-year-old man recorded osteomas in the maxillary bone 18 years before, haemorrhoids, and kidney stones. He presented with pain in the right lower abdomen and rectal blood loss. His complaints were diagnosed as familial adenomatous polyposis, culminating in sigmoid carcinoma. Due to the extent of the polyps and, consequently, the great cancer relapse risk, a surgical treatment was indicated. A symptom ofa familial adenomatous polyposis variant, Gardner's syndrome, is osteomas in the orofacial region. Dentists and oral surgeons should be aware of this rare syndrome in a patient with orofacial osteomas, especially if the patient has a familial risk of adenomatous polyposis.

Gardner's syndrome, a variant of familial adenomatous polyposis, is characterized by colonic polyposis, osteomas, and soft tissue tumors. Adrenal masses in Gardner's syndrome are rare, and few have displayed clinical manifestations. We report a 16-year-old female with Gardner's syndrome, who had an aldosterone-secreting tumor resected via laparoscopic adrenalectomy.

Gardner's syndrome is a clinical subgroup of familial adenomatous polyposis, an autosomal dominant disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and soft tissue tumours. Aggressive desmoid tumours can be very difficult to manage in patients with Gardner's syndrome. We present a case of a 17-year-old female who presented with an aggressive desmoid tumor arising of the lumbar area as part of her Gardner's syndrome. She was treated with surgery, nonsteroidal anti-inflammatory drugs, tamoxifen and radiotherapy, and was followed up for 80 months. We conclude that desmoid tumors can precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome. Such patients should be evaluated with genetic testing followed by colonoscopy. Desmoid tumours should be managed in a multidisciplinary setting, as well.

Gardner syndrome (GS) is an abnormality of familial adenomatous polyposis accompanied by characteristic jaw lesions. Gardner syndrome intestinal polyps have a 100% risk of undergoing malignant transformation; consequently, early identification and surgical intervention of the disease are important to prolong the life of the patient. We present a case of GS in a 55-year-old woman. Familial adenomatous polyposis, osteomatous jaw and ocular lesions, several dental abnormalities, and an abdominal desmoid tumor are the characteristic features of this case. This case demonstrates the presence of unusual, widespread, hereditary, osteomatous jaw lesions that caused diagnostic confusion with familial gigantiform cementoma.

Aim: The aim of this case report is to emphasize the importance of an early diagnosis of Gardner's syndrome through the detection of lesions appearing in the oral and maxillofacial area as well as to present two cases of the disease., Background: Gardner's syndrome is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine, along with multiple osteomas, skin, and soft tissue tumors. Cutaneous findings may include desmoid tumors, epidermoid cysts, and other benign tumors. Early diagnosis and therapy of the disease are critical because polyps have a 100% risk of undergoing malignant transformation. Craniomaxillofacial manifestations (osteoma formation, tooth impaction, diffuse opacities in the skull, mandible and maxilla, scalp tumors) usually precede polyposis., Report: Case 1: Gardner's syndrome was diagnosed in a 25-year-old Caucasian man who was referred by his endodontist for evaluation of an uncommon radiographic image in the mandibular molar area. Further investigation revealed a familial adenomatous polyposis (FAP) complicated by adenocarcinoma of the colon. A colectomy and an ileorectal anastomosis were performed. Case 2: A 12-year-old Caucasian girl, who is a niece of the patient described in Case 1, presented with progressive difficulty with mouth opening but no complaints of digestive problems. Radiographic examination revealed multiple radiopacities in the maxilla, mandible left temporomandibular joint, and in the left mandibular angle. Multiple impacted teeth were present. A colonoscopy was suggested, but the patient's parents decided to continue the investigation and treatment with their own physician in their home town., Summary: Since an early diagnosis is essential and general dental practitioners may be the first healthcare professionals to suspect the diagnosis, it is important for them to be familiar with the features of Gardner's syndrome.

Background: Gardner's Syndrome is a familial adenomatous polyposis (FAP) syndrome that presents with colorectal polyps, craniofacial osteomas, lipomas, epidermoid cysts, and ampullary cancers. These patients are at significant risk for developing desmoid tumors, which are locally infiltrating fibromatous lesions. These are most commonly found in the abdominal cavity, but may be extra-abdominal. Although FAP-associated desmoid tumors often occur at sites of surgical scarring, this is the first report following resection of an intracranial meningioma., Case Description: We present a patient with Gardner's Syndrome who underwent resection of a foramen magnum meningioma and subsequently developed a de novo desmoid tumor at the surgical site. She had a complete surgical resection of the tumor but did not receive adjuvant therapy. At the time of her death 7 years after her desmoid tumor resection, she had no evidence of a recurrence at the skull base., Conclusion: This case report emphasizes the need for careful follow-up in patients with Gardner's Syndrome who undergo resection of a meningioma or other neurosurgical procedure. Adjuvant therapy may be of value in these patients.

Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis (RPC/ IPAA), ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper.

Malignant tumors of visceral organs are a fundamental feature of familial cancer and paraneoplastic syndromes. In many instances, the presence of an internal and often occult malignancy may be forewarned by various external manifestations. Several of these findings are preferentially localized to the head and neck region, including the oral cavity proper. This places the dental practitioner in a unique position to detect these "markers" of occult neoplastic involvement. Because these markers may present before an established syndrome or cancer diagnosis, even representing the first expression of disease in some cases, early recognition by a dentist may lead to timely diagnosis and management of these cancer-associated syndromes.

Aim: In this study we aimed to determine the prevalence, features and associations of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the optometric population., Method: The Optomap imaging system uses an ultra-wide-field scanning-laser ophthalmoscope to image the fundus at the choroidal and retinal levels, non-mydriatically, capturing an image of up to 200 degrees . Optomap images of 1745 consecutive patients obtained at a recent optometric examination were examined retrospectively., Results: The prevalence of CHRPE was found to be 1.20%. CHRPE was found to be most commonly located temporally to the optic disc within the peripheral fundus. All lesions found were of previously documented shapes and sizes, and divided approximately evenly between those with and without depigmented haloes and lacunae; all were monocular. The progression of the condition could not be accurately described without follow-up. The evidence found appears to support the theory that increasing atrophy is related to flat, overall enlargement of the lesion. No symptoms or associations were found, and no abnormalities were found in the fellow eye. No evidence was found to suggest a relationship between true CHRPE and familial adenomatous polyposis coli, Gardner's or Turcot's syndromes.

Dental professionals play an important role in discovering the early signs of many illnesses. Gardner's syndrome, which affects one in 7500 births in the United States, is an inherited autosomal dominant disorder. There are three distinctive features associated with this syndrome: familial intestinal polyposis or adenomatosis, surface tumors of hard tissues particularly osteoma in the skull, maxillae, and mandible, and finally surface tumors of the soft tissue. The intestinal polyps have a 100% risk of undergoing malignant transformation if not treated. Consequently, early identification of the disease is critical. In this article an 18-year-old male patient with previously undiagnosed Gardner's syndrome who presented for removal of multiple impacted and unerupted teeth is reported to illustrate the importance of early detection and proper referral. This report describes an unusual presentation of a patient seeking extraction of teeth only, while he was totally unaware of potentially deadly situation.

Objectives: Osteomas are common benign tumors of the paranasal sinuses. The origin of these lesions is uncertain. Although most are asymptomatic, symptoms can include headaches, facial pain, rhinorrhea, and sinusitis. Osteomas are also seen as part of Gardner's syndrome, an autosomal dominant disease characterized by intestinal polyposis, osteomas, and cutaneous and soft tissue tumors. In affected individuals, the risk of developing colon cancer approaches 100%. On average, osteomas are detected 17 years before colon polyps appear., Methods: Three patients with maxillary or ethmoid osteomas and chronic sinusitis are presented., Results: One of the patients had evidence of Gardner's syndrome, based on the presence of gastrointestinal symptoms and a positive family history of polyposis., Conclusions: Otolaryngologists should be aware of the possibility of Gardner's syndrome in patients with paranasal sinus osteomas. Suspected patients should have a complete workup for Gardner's syndrome, including lower gastrointestinal tract endoscopy, barium enema imaging, and DNA testing.

In this preliminary report, we explore the uptake pattern of fluorodeoxyglucose (FDG) in fibromatosis and hypothesize the potential clinical role of FDG-positron emission tomography (PET) in the management of this benign but locally aggressive heterogeneous group of soft-tissue tumours. Five patients were studied (two men and three women, age range 23-35 years), among whom were three cases of deep musculoskeletal fibromatosis, one of abdominal fibromatosis (abdominal desmoid) associated with familial adenomatous polyposis (Gardner's syndrome) and one case of both deep musculoskeletal fibromatosis and abdominal desmoid. The FDG uptake in the lesions was heterogeneous in four cases and relatively homogeneous in one case. The uptake ranged from low to moderate grade with areas or foci of relatively avid FDG uptake. The maximum standardized uptake value (SUV(max)) observed was up to 4.7; the avidity probably related to the biological aggressiveness and tendency for recurrence, characteristic of fibromatosis. A dual-point FDG-PET carried out over four active foci in two cases registered an increase in SUV ranging from 6.93% to 25.85% (mean 19.28%). Treatment monitoring with chemotherapy was carried out in two cases: the reduction in FDG uptake was consistent with the histological evidence of fibrosis and reduction in mitosis. Hence, a baseline FDG-PET can serve a valuable role in monitoring the effect of systemic pharmacotherapy in patients with recurrent progressive disease after unsuccessful local-regional treatment. The findings in this report can be extrapolated and have implications for studying the utility of FDG-PET in defining aggressiveness, guiding biopsy and defining excision site in a large tumour and in monitoring therapy in fibromatosis.

We present a case of a 25-year-old female with diagnosed familial adenomatous polyposis and elevated carcinoembryonic antigen with negative family history. The suspicion of Gardner's syndrome was raised because extirpation of an osteoma of the left temporo-occipital region was made 10 years ago. Restorative procto-colectomy and ileal pouch anal anastomosis was made but histology delineated adenocarcinoma of the rectum (Dukes C stage). We conclude that cranial osteomas often precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome and such patients should be evaluated with genetic testing followed by colonoscopy if results are positive to prevent the development of colorectal carcinoma. If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis.