Search

Gardner's syndrome has been recognized as a hereditary affliction that is autosomal in nature. This disorder is known to exhibit characteristics of familial adenomatous polyposis, of which it is also considered a variation. The features of this syndrome include the gradual development of osteomas and epidermoid cysts, including a characteristic feature that is the noted presence of intestinal polyps, which are generally multiple in number. Additionally, dental anomalies have been observed and recorded in a sizeable ratio of cases encompassing an increased frequency of multiple odontomas that are benign tumors linked to the development of a tooth and tooth agenesis/hypodontia that refers to developmental absence of one or more teeth. The other dental ascertainment includes abnormal morphology of the tooth/teeth as well as the presence of supernumerary teeth and impacted or unerupted teeth. This case report outlines the case of a 59-year-old male patient who had reported to the clinic, and was then diagnosed with Gardner's syndrome post a thorough examination. On radiographic examination, the manifestation of multiple osteomas in the frontal bone was revealed. The presence of a motley of diffused benign lesions of the bone in both the upper and lower jaw as well as the presence of an epidermoid cyst on the scalp was suggestive of an exemplar presentation of Gardner's syndrome. [ABSTRACT FROM AUTHOR]

Rationale: This case report highlights the essential role of dental and medical professionals in the early diagnosis of Gardner's syndrome (GS). Patient Concerns: A 21-year-old patient presented with painless, progressively enlarging swelling on both sides of the face, which had developed over the past few years. Diagnosis: Imaging, including a panoramic image and multislice computed tomography (CT) scan, revealed multiple osteomas. The patient was referred to gastroenterology, where endoscopy and colonoscopy identified multiple adenomatous polyps. Interventions: The patient subsequently underwent facial aesthetic corrections. Outcomes: The patient is currently undergoing regular gastrointestinal monitoring and managing colon polyps, with follow-up appointments scheduled annually. Take-away Lessons: To improve the prognosis, this report emphasises the vital role of dental and medical professionals in the early detection of GS, advocating for a multidisciplinary preventive approach. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Gardner's syndrome (GS) is a combination of polyposis, osteomas, fibromas, and sebaceous cysts. The aim of the study is to highlight whether maxillofacial osteoma could represent an early detection symptom of GS. Patients with suspected osteoma of the jaw underwent genetic and radiographical examinations. The database gathered 19 patients with oral osteoma that was histologically diagnosed; the whole sample was positive for APC gene mutation. Other cranial and peripheral locations were reported. Osteoma of the jaw is a crucial predictive factor of GS, and dentists and oral and maxillofacial surgeons must be aware of the importance of a timely diagnosis. [ABSTRACT FROM AUTHOR]

Copyright of Brazilian Journal of Surgery & Clinical Research is the property of Master Editora and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Osteoma is a slow growing, asymptomatic, benign bony tumor composed of compact and cancellous bones. Central, peripheral, and extra skeletal osteomas are the three types based on the site of origin. They are mostly observed on routine radiographic screening, mostly in the paranasal sinuses. Gnathic involvement is an uncommon occurrence, and if present, mandibular involvement is more frequently seen. Mostly, osteomas are small asymptomatic lesions and very rarely they become symptomatic and acquire larger size. Multiple osteomas are a feature of Gardner's syndrome; however, solitary osteomas are non-syndromic. Oral health professional may be the first to diagnose Gardner's syndrome as the osteomas may be initial manifestation of the disorder. Treatment protocol of osteomas varies based on the associated signs and symptoms. Small, asymptomatic cases are treated conservatively by periodic clinical and radiographic evaluation. However, larger, symptomatic lesions require surgical intervention. Herby, reporting an unusual case of Giant peripheral osteoma of the mandible. Our case is unique in few aspects because of its unusually large size (5 × 4 cm) and involvement of lingual aspect of the mandible in the region of sublingual fossa, with compression of the floor of mouth. [ABSTRACT FROM AUTHOR]

Dense bone islands (DBIs) are usually asymptomatic and do not require any treatment. This case report presents a DBI of an unusual presentation, which was an incidental finding on a radiograph of a 15-year-old orthodontic patient. The DBI lesion was 24 mm in size, occupying at least 50% of the alveolar process between the upper right canine and lateral incisor, extending up the lateral aspect of the anterior margin of the right nasal fossa. Generally, DBIs are 2–3 mm in size and more commonly found in the mandible in the molar and premolar region. This article further discusses the impact of DBIs on orthodontic treatment such as difficulty with achieving space closure and adequate root tip or torque. We also examine the potential medical implications of DBIs. This is clinically important, especially if multiple DBIs, or osteomas which have a similar radiographic appearance to DBIs, are found in a patient as they may be associated with adenomatous intestinal polyps, which, if not treated, have a 100% chance of becoming malignant transformation [ABSTRACT FROM AUTHOR]

Desmoid tumors account for 3% of all soft tissue tumors and 0.03% of all neoplasms. In some cases, they appear as part of various syndromes, such as familial adenomatous polyposis (FAP). Desmoids are associated with CTNNB1and APC mutations, which exclude each other. Desmoid tumors appear as slowly growing masses that often do not cause symptoms. The natural course of desmoids varies and is unpredictable. Most patients feel relieved by the benign diagnosis and underestimate the aggressive behavior of the disease.Various imaging techniques have been used for diagnosis and monitoring of desmoids, including ultrasound (U/S), magnetic resonance imaging (MRI), computed tomography (CT) scan, positron emission tomography (PET) scan and plain X-ray. The definitive diagnosis requires biopsy.Desmoids usually express β-catenin and vimentin. Sporadic tumors are associated with CTNNB1 mutation of β-catenin. If this mutation is identified, the presence of any syndrome can be excluded. FAP is inherited in an autosomal dominant fashion and is caused by a mutation of the APC gene; 10-15% of patients with FAP develop desmoid tumors while 7.5-16% of desmoids are a manifestation of FAP.The basic therapeutic approaches are surgical excision, radiotherapy and medical treatment with anti-estrogen, nonsteroid anti-inflammatory drugs (NSAIDs), cytotoxic chemotherapy and molecular therapies. Close observation of the disease progress is imperative, whether the "wait and watch" strategy has been chosen or a specific treatment has been applied. Imaging, preferably MRI, should be performed every 3 months for the first year after diagnosis, every 6 months for the second year and annually thereafter. [ABSTRACT FROM AUTHOR]

Copyright of Turkiye Klinikleri Journal of Dental Sciences is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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. [ABSTRACT FROM AUTHOR]

Gardner's syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas, and a multitude of soft-tissue tumors. Dental anomalies are present in estimated 30% of all affected individuals of Gardner's syndrome, so dental professionals play an important role in determining the early signs of the syndrome. The intestinal polyps have a 100% risk of undergoing malignant transformation if not treated thus, early diagnosis and regular surveillance are important. In this report, we describe classical presentation of Gardner's syndrome in a patient who presented with bilateral swellings on palate along with multiple impacted teeth. [ABSTRACT FROM AUTHOR]

Epidermoid cysts are quite rare in the head and neck region. They present as an asymptomatic swelling. The differential diagnosis of these lesions include dermoid cyst, milia, pilar cyst, etc. Although benign they need to be treated as soon as a possible as they can cause disfigurement of the head and neck region. We report a case of epidermoid cyst in the middle face region which was surgically treated. [ABSTRACT FROM AUTHOR]

Gardner's syndrome (GS), a variant of familial adenomatous polyposis (FAP), remains a life-threatening condition of significant dental relevance. Clinicians can play an important role in the identification of this condition as the dental manifestations often precede the development of intestinal polyposis. This article describes a clinical case in which identification of the dental features of GS during routine orthodontic assessment resulted in the early diagnosis of this condition, which was previously unrecognised in a young female patient. [ABSTRACT FROM AUTHOR]

Osteoma is a slow growing benign tumor consisting of well differentiated compact or cancellous bone that increases in size by continuous growth. It can be of a central, peripheral, or extraskeletal type. The peripheral type arises from the periosteum and is rarely seen in mandible. Although completely curable with adequate surgical treatment, osteomas precede the clinical radiographic evidence of colonic polyposis/Gardner's syndrome. Therefore they may be sensitive markers for the disease. Recurrence of peripheral osteoma after surgical excision is extremely rare. However it is appropriate to provide both clinical and radiographic follow up after surgical excision of peripheral osteoma. This article describes the case of a 45 year old male who presented with painless swelling of the right body of mandible and resultant cosmetic facial disfigurement and functional impairment. [ABSTRACT FROM AUTHOR]

An osteoma is a benign, slow growing osteogenic tumor characterized by proliferation of either compact or cancellous bone. It can be central, peripheral or extraskeletal. Clinically osteomas are usually asymptomatic. These lesions often go undetected unless incidentally found on radiographic survey or until they have extended to such an extent that they cause facial asymmetry or functional impairment. The most common site of osteoma to develop in maxillofacial region is skull. Giant osteomas in mandible are rare. We present and discuss a case of giant osteoma of right mandible which was surgically excised. [ABSTRACT FROM AUTHOR]

Osteomas are rare benign tumours in the bone. We describe a case of giant osteoma involving the lingual side of the ramus and body of mandible that recurred 8 years after its surgical treatment at another hospital. Surgical resection with reconstruction is the treatment of choice for this lesion. The clinicopathological features of osteoma are discussed and Gardner's syndrome was excluded. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Copyright of Anales de Otorrinolaringología Mexicana is the property of Sociedad Mexicana de Otorrinolaringologia y Cirugia de Cabeza y Cuello and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Médecine Buccale Chirurgie Buccale is the property of EDP Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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. [ABSTRACT FROM AUTHOR]

Copyright of Médecine Buccale Chirurgie Buccale is the property of EDP Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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. [ABSTRACT FROM AUTHOR]

Copyright of Der Urologe A is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of HNO is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Modification of the originally described multivisceral transplant operation was introduced at our institution 17 years ago. Donor liver was spared, and native spleen along with pancreaticoduodenal complex was preserved.Methods: Thirty-six modified multivisceral grafts that include stomach, duodenum, pancreas, and intestine were given to 30 adults and six children. Leading causes of intestinal failure were pseudo-obstruction and Gardner's syndrome. Native spleen was preserved in 24 (67%) recipients along with pancreaticoduodenal complex in 18 (50%). Immunosuppression was tacrolimus-based, and recipient preconditioning was utilized in 80% of patients.Results: Patient survival was 94% at 1 year and 75% at 5 years with graft survival of 91% and 51%; respectively. With mean follow-up of 51 ± 35 months, full nutritional autonomy was achieved in 89% of current survivors with no single example of disease recurrence. Preservation of native spleen was associated with increased survival and reduced risk of PTLD, life-threatening infections, and GVHD with no significant impact on graft loss due to rejection. Concomitant preservation of pancreaticoduodenal complex eliminated risks of biliary complications and glucose intolerance.Conclusion: Modified multivisceral transplantation with and without preservation of native spleen, pancreas, and duodenum is a valid therapeutic option for patients with diffuse gastrointestinal disorders and preserved hepatic functions. [ABSTRACT FROM AUTHOR]

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°. 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Patients with familial adenomatous polyposis (FAP) develop multiple premalignant colorectal adenomas. Untreated, one or more of these polyps will progress to colorectal carcinoma in middle-aged adults. Extra-intestinal manifestations of FAP are frequently observed and this combination has been called Gardner's syndrome. Oral and maxillofacial symptoms of FAP include an increased risk of jaw osteomas, odontomas and supernumerary or unerupted teeth. Early diagnosis of FAP is crucial and may be life saving. As oral signs usually precede gastrointestinal symptoms, the dentist may play an important role in the diagnosis of FAP. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Three patients with Gardner's syndrome having benign fibrous proliferations in the soft tissues and the oral cavity are presented. Lesions in all three patients were morphologically different. Two excised lesions in Case 1 were histologically identical to nuchal-type fibroma (NTF) and one lesion in this patient was an epidermal cyst. Case 2 had a lesion located in the soft tissues of the shoulder, which was morphologically similar to NTF and, in addition, contained mildly atypical and multinucleated fibroblastic cells. The oral lesion in Case 3 looked like a fibroma and was morphologically different from all fibrous lesions that have ever been described in Gardner's syndrome. The cases in the present report show that the term Gardner's fibroma is just a descriptive name encompassing a spectrum of morphologically different benign fibrous proliferations associated with this syndrome. Therefore, the term Gardner's fibroma should not be used as a specific name for NTF arising in patients with Gardner's syndrome as suggested in the most recent WHO classification of soft tissue and bone tumors. [ABSTRACT FROM AUTHOR]

An 18-year-old girl had microcephaly without mental or neurological disabilities. She had hypoplastic mandible, long cup-shaped ears, bilateral incurved little fingers, bilateral retinal pigmentation, and scattered areas of depigmentation as well as a history of osteochondroma. However, genetic test for mutation analysis of exon 15 of the APC gene showed negative results. To the best of our knowledge, this is the third case to be reported with microcephaly, normal intelligence, and bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE). [ABSTRACT FROM AUTHOR]

Purpose: To describe abscess formation complications in desmoid tumors of patients with Gardner's syndrome and percutaneous drainage.Methods: Three patients with Gardner's syndrome and intramesenteric desmoid tumors were diagnosed as having intratumor abscess formation. Percutaneous drainage was the initial method of treatment in each case. Two subsequently underwent surgical resection and one patient refused surgery and was lost to follow-up.Results: In each case, percutaneous drainage and antibiotics resulted in clinical improvement. In two, fistulous communication with the small bowel could be demonstrated, presumed to be the cause of abscess formation. Surgical resection confirmed fistula communication to the small bowel. In the third patient, no fistula was seen and only percutaneous drainage was performed.Conclusion: Abdominal pain and fever in patients with Gardner's syndrome and desmoids is suggestive of abscess formation in these tumors. Percutaneous drainage is useful as initial management. [ABSTRACT FROM AUTHOR]

Unusual multiple lesions of jaws in a middle-aged woman with all classic manifestations of Gardner's syndrome are reported. Clinical examination revealed a diffuse swelling of the mandible and maxilla with bone-like hardness and numerous radiopaque lesions scattered throughout both mandible and maxilla. Impaction of the molar teeth was revealed by roentogenographic examination. Histopathologically, the multiple jaw lesions consisted of trabecular proliferation of hardtissue which more closely resembled cementum than immature bone or osteoid. It was found to be united with the cementum of tooth-roots through obliteration of the periodontal ligament. The present lesions do not fit into any of the distinct entities of cemental lesions described. [ABSTRACT FROM AUTHOR]

Desmoid tumors are rare, but not in patients with Gardner's syndrome. Although standard treatment is wide surgical excision, we prescribed chemotherapy for a 30-year-old woman with intra-abdominal desmoids, a complication after subtotal colectomy for the treatment of familial polyposis coli. Exploratory laparotomy revealed that the desmoids were not resectable. Chemotherapy with combinations of vincristine, azathioprine, cyclophosphamide, and prednisone was prescribed for over 3 months, and a partial regression of the tumors occurred. Two years after the initiation of the chemotherapy, complete regression of tumors was achieved with cyclophosphamide and prednisone. Surgical excision, irradiation, and chemotherapy treatments are discussed. [ABSTRACT FROM AUTHOR]

A case of intra-abdominal desmoid tumors in familial polyposis coli (FPC), which regressed and disappeared by prednisolone treatment, is reported. A 37-year-old Japanese man with abdominal lumps was admitted to our hospital. He had had proctocolectomy two years before because of FPC with rectal cancer. At laparotomy, tumors were present in the abdominal wall, mesentery, and retroperitoneum. Only a small part of the tumors was resected and diagnosed microscopically to be desmoid tumors. With prednisolone administration (20 to 5 mg/day) subjective symptoms were ameliorated and desmoid tumors slowly regressed. Bilateral hydronephrosis continued and resulted in “retroperitoneal fibrosis.” To our knowledge, this case is the first well-documented case of retroperitoneal fibrosis in a patient with FPC. The characteristics of the desmoid tumor in familial polyposis coli or in Gardner's syndrome and the methods for its management are discussed. [ABSTRACT FROM AUTHOR]

Endoscopy and biopsy of the terminal ileum were performed in 18 patients with familial adenomatosis coli/Gardner's syndrome. All had undergone total colectomy with ileoproctostomy 7 to 249 months (average, 79.7 months) before the study. In all of these patients, endoscopic studies revealed multiple or innumerable small (less than 4 mm in diameter) polypoid lesions, all recognizable, as whitish, sessile elevations. Histologic findings of the biopsy specimens from the polypoid lesions showed tubular adenoma, with or without lymphoid hyperplasia, in nine (50 percent), but only lymphoid hyperplasia in the other nine patients. Colonic metaplasia was present in the adjacent ileal mucosa in 3 patients with ileal adenomas. The incidence (83 percent) of ileal adenomas detected 113 to 249 months after colectomy was higher than that (33 percent) found 7 to 90 months after surgery. In view of these results, endoscopy and biopsy of the terminal ileum, as well as the retained rectum, should be done periodically for postcolectomy patients with this disease [ABSTRACT FROM AUTHOR]

Turcot's syndrome represents the association between familial multiple polyposis coli and neural tumors. The syndrome is reviewed with reference to genetics, colonic and central nervous system manifestations. This evidence suggests that Turcot's syndrome represents one manifestation of the pleiotropic autosomal dominant gene responsible for familial polyposis coli and the associated extracolonic manifestations of Gardner's syndrome. A diagnosis of Turcot's syndrome should be restricted to those patients with familial polyposis coli associated with gliomas or medulloblastomas. A further case is presented that is believed to be the first report of such a case in the United Kingdom. [ABSTRACT FROM AUTHOR]

Although familial polyposis coli (FPC) is often thought to be a discrete disease with uniform clinical presentation and few therapeutic options, review of 16 families encountered in the last five years has shown that marked variation in the clinical manifestations of the syndrome is the rule rather than the exception. Thirty one percent of propositi had negative family histories, 67 percent of observed cancers were in the rectum, three individuals from three families developed cancer under the age of 20. In another family the only cancer was in a 67-year-old patient. Polyp growth rate varied tremendously among individuals and over time within individuals, rectal polyps did not regress after subtotal colectomy, and three patients developed rectal cancer after subtotal colectomy (18 percent). Fifty percent of propositi had cancer on presentation, while only 18 percent of screened family members had cancer. The only extracolonic tumors seen were gastroduodenal polyps and retroperitoneal desmoids in three families. The mode of inheritance of FPC causes this variation and treatment is best tailored to the individual and his family rather than uniformly applied to all patients with FPC. [ABSTRACT FROM AUTHOR]

Adenomatous lesions and carcinoma of the upper gastrointestinal tract, biliary tree, and gallbladder are being reported with increasing frequency in patients with familial polyposis coli or Gardner's syndrome (FPC/GS). A patient with FPC/GS who developed polyps with carcinoma in situ of the common bile duct and ampulla of Vater, along with extensive adenomatous changes in the duodenum, gallbladder, extrahepatic bile ducts, and main pancreatic duct is presented. Proliferative lesions, adenomas, and carcinomas should always be considered in the differential in patients with FPC/GS who have symptoms of upper gastrointestinal, biliary or pancreatic disease. [ABSTRACT FROM AUTHOR]

Endoscopy and biopsy of the upper gastrointestinal tract and terminal ileum were performed in 24 patients with familial polyposis or Gardner's syndrome in order to further define the incidence of extracolonic adenomatous polyps. Polyps, usually multiple and small in size, were detected in the gastric fundus (12.5 percent), antrum (29.1 percent), duodenum (66.6 percent), and terminal ileum (41.7 percent). Histology showed hyperplasia of the fundic glands and cystic dilatation in the polyps of gastric fundus, and adenomas in several cases of antral (three patients) or duodenal polyps (14 patients). Polyps of the terminal ileum were either adenomas (five patients) or lymphoid aggregates. Patients with stigmata of Gardner's syndrome, desmoids or mesenteric fibromatosis presented a major incidence of adenomas in the duodenum, but not in other parts of the digestive tract investigated. Subsequent checkup after an average of 33 months in ten patients revealed an increase of lesions only in the duodenum in two patients. These findings confirm that adenomatous polyps are not limited to the colon and rectum, as previously believed, but can affect the whole gastrointestinal tract. Periodic surveillance of mucosa seems to be indicated, especially for the duodenum, since degeneration of adenomas into carcinoma is possible [ABSTRACT FROM AUTHOR]

A total of 26 patients with familial polyposis coli without extracolonic manifestations were examined by gastroduodenoscopy. Histologically verified polyps were found in 18 patients (69 percent, 95 percent confidence limits 48-86). Gastric adenoma was diagnosed in one patient, fundic gland polyposis in six patients, and duodenal adenomas in 12 patients. It is concluded that the incidence of gastroduodenal polyps is independent of the clinical presence of other extracolonic manifestations. It is advisable that polyposis patients should be followed with gastroduodenoscopy and biopsy of polyps. [ABSTRACT FROM AUTHOR]

Orthopantomograms of the mandible were performed on 46 patients with familial polyposis coli having no clinical signs of Gardner's syndrome and on 46 control patients matched according to age and sex. Thirty-five patients (76.1 per cent) and two (4.3 per cent) controls had osteomas (P<0.0005). It is concluded that orthopantomography of the mandible is a valuable diagnostic supplement to prophylactic proctosigmoidoscopic examination of first-degree relatives of polyposis patients. Due to the frequent occurrence of mandibular osteomas in polyposis patients without clinically detectable extracolonic manifestations, it is suggested that “Gardner's syndrome” is no longer considered a clinical entity. [ABSTRACT FROM AUTHOR]

A 48-year-old man with Gardner's syndrome, who had abdominoperineal resection for rectal carcinoma in 1962, was found to have an ulcerating growth of the duodenum, and pancreaticoduodenectomy was performed in 1979. Histologic examination by complete step-serial sectioning disclosed a well-differentiated adenocarcinoma with adenomatous remnants, a large adenoma with focal carcinoma, 256 adenomas of the duodenum, and 91 adenomas of the gastric antrum. The world medical literature was reviewed, and 29 cases of periampullary carcinoma and 12 cases of gastric carcinoma complicating familial polyposis coli or Gardner's syndrome were analyzed. [ABSTRACT FROM AUTHOR]

Congenital hypertrophy of the retinal pigment epithelium is a common eye sign in patients with familial adenomatous polyposis (FAP). FAP has autosomal dominant inheritance with virtually 100% risk of colonic malignancy in adult life. There may be other associated systemic abnormalities including extracolonic malignancy. Early detection of disease is desirable, but has in the past been reliant on regular endoscopic examination. The nature of congenital hypertrophy of the retinal pigment epithelium and its usefulness as a predictive marker of the disease are discussed [ABSTRACT FROM AUTHOR]

The entire gastrointestinal tract and bones were examined systematically in 24 patients (10 pedigrees) in whom familial polyposis coli was diagnosed. Polypoid lesions were observed in the stomach in as high as 68.2% of the cases, and in the duodenum in 90%. Abnormalities were noted in the skeleton in 50% and in the mandible in 81.3%. The authors emphasize the possibility that familial polyposis coli is substantially the same entity as Gardner's Syndrome. [ABSTRACT FROM AUTHOR]

Abdominal masses, 'desmoid tumors,' occur in approximately 4% of patients with Garnder's Syndrome, usually 1-3 years after total colectomy. Histologic sections usually resemble those of an infiltrating fibrous tumor, a desmoid lesion. The radiographic pattern may be similar to any diffuse abdominal retroperitoneal tumor, metastatic disease, lymphoma, or possibly retractile mesenteritis. The clinical setting usually differentiates these entities. [ABSTRACT FROM AUTHOR]

The intestinal polyposis syndromes represent a challenging diagnostic problem for the radiologist. These syndromes include: familial multiple polyposis, Gardner's, Peutz-Jeghers, Turcot's, Cronkhite-Canada and juvenile polyposis. The polyposis syndromes can usually be differentiated from one another on the basis of the clinical history, examination of the mucocutaneous tissues and roentgen findings. Numerous other conditions, however, may mimmic a polyposis syndrome, and must be considered in the differential diagnosis. [ABSTRACT FROM AUTHOR]

Familial adenomatous polyposis of the colon, or Gardner's syndrome, is often accompanied by adenomas of the stomach and duodenum. We experienced a rare case of Gardner's syndrome, with adenomas of the common bile duct, in a patient who presented with relapsing acute pancreatitis. Our findings indicate that adenoma in the common bile duct or pancreatic duct should be considered as a possible etiology when patients with familial polyposis or Gardner's syndrome present with pancreatitis, particularly relapsing acute pancreatitis. [ABSTRACT FROM AUTHOR]

This study was conducted to clarify the actual morbidity and clinicopathologic features of thyroid neoplasia in patients with familial adenomatous polyposis. We analyzed the clinical records of 49 Japanese patients with familial adenomatous polyposis diagnosed at our institute. Six of these patients had thyroid neoplasias (3 carcinomas, 2 adenomas, and 1 of unknown histology). Among 17 patients (11 men and 6 women) who had been examined by thyroid ultrasonography or in whom postmortem examination was performed; we categorized 6 patients with thyroid tumor as the TT group, and the remaining 11 without thyroid tumor as the NTT group. The clinical features of the two groups were compared. Thyroid neoplasia was detected by physical examination in 2.3% of 43 patients so examined and was detected in 25% of 8 patients examined by thyroid ultrasonography, and in 44% of the 9 patients subjected to postmortem examination. There were no significant differences between the TT and NTT groups in gender; age at first admission, colectomy, and last follow-up visit; number of colonic polyps; or in presence of colorectal cancers, gastroduodenal adenomas, gastric fundic gland polyposis, retinal pigmented lesions, or extraintestinal tumors. The thyroid gland is frequently affected in patients with familial adenomatous polyposis, but there may be no association between thyroid neoplasia and other clinical manifestations. [ABSTRACT FROM AUTHOR]

Conclusions: Desmoid tumors may rarely develop at the site of an unrelated surgical procedure. This is an index description of a desmoid tumor occurring at the line of a pancreatic resection. Because sporadic intra-abdominal desmoids are markedly less prone to recurrence than genetically determined desmoids, it is reasonable to suggest re-resection for the infrequent recurrence in sporadic cases. Background: Intra-abdominal desmoid tumors are infrequently encountered in surgical practice and, when seen, are most often those genetically determined tumors associated with Gardner's Syndrome or familial polyposis. In contrast, fewer than 100 cases of sporadic intra-abdominal desmoid tumors have been reported; only 16 of these sporadic tumors have occurred at the site of a previous surgical procedure. The current report describes a case of sporadic desmoid tumor that developed at the pancreatic suture line 18 mo following distal pancreatectomy for a nonsecreting islet cell tumor. Methods: An extensive literature search was focused on desmoid tumors in general, and sporadic intra-abdominal desmoids in particular. Results: During the course of this collective review, it was noted that the high rate of postoperative recurrence for intra-abdominal desmoids in genetically determined cases differed markedly from the low rate of recurrence after resection of sporadic tumors. [ABSTRACT FROM AUTHOR]