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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]

Desmoid tumors (DTs) are deep fibroblastic neoplasms that arise from musculo-aponeurotic stromal elements. DTs may result in significant morbidity by infiltrating vital anatomic structures. Their mortality is often due to the local aggressiveness, most commonly when intra-abdominal in location. Some indolent DTs can be observed expectantly; infiltrative tumors require an aggressive and multidisciplinary approach and are offered conservative therapies such as nonsteroidal anti-inflammatory drugs or antiestrogens when surgery is not feasible. Comparably, chemotherapy is considered for those cases not amenable to surgery or radiation. Bowel resection and at times intestinal transplantation may be necessary. However, DTs may recur postsurgery making long-term management of these patients. Herein, we review the genetics, clinical presentations, outcomes, and treatments of DTs.

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]

Gardner syndrome (GS) is a hereditary disease, with an autosomal dominant characteristic that was caused by a mutation of the adenomatous polyposis coli (APC) gene, in which patients develop polyps, which have a probability that can reach 100% risk of undergoing transformation and becoming malignant, which has its peak of correct diagnosis of the disease in patients aged approximately 22 years. Given this, some of the main symptoms of GS are osteomas that are considered benign, have a slow and asymptomatic growth, as well as desmoid tumors, which is a rare type of neoplasm located in soft tissues that does not undergo metastasis. Epidermoid cysts, which can affect approximately 50 to 65% of patients with the syndrome, fibromas and lipomas, which are also lesions located in soft tissues. Dental abnormalities, such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported, these dental anomalies affect about 30 to 75% of patients with Gardner syndrome and may cause pain to the patient. The most serious concern in this syndrome is the extremely high risk of GI polyps undergoing malignant transformation. The objective of this literature review is to show the importance of the dentist in the early diagnosis of this syndrome, as maxillofacial findings usually precede gastrointestinal polyps, the dentist plays a crucial role in the diagnosis of Gardner's syndrome. [ABSTRACT FROM AUTHOR]

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]

Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-). VDR null mice do not develop GI or extra-colonic tumors but loss of VDR decreased intestinal tumor latency and increased progression to adenocarcinoma in both models. AOM treatment of VDR null mice also caused squamous cell carcinoma of the anus. Although levels and distribution of total or activated β-catenin in the epithelial component of tumors were unaffected by loss of VDR, β-catenin dependent cyclin D1 expression was affected suggesting a direct VDR effect on β-catenin co-activator activity. Extra-colonic mucosa manifestations in Apc1638N/+Vdr-/- animals included increased nuclear β-catenin in submucosal stromal cells, spleno- and cardiomegaly and large epidermoid cysts characteristic of the FAP variant, Gardner's syndrome. Consistent with this, SNPs in the VDR, vitamin D binding protein and CYP24 as well as mutations in APC distal to codon 850 were strongly associated with Gardners syndrome in a cohort of 457 FAP patients, This work suggests that alterations in the vitamin D/VDR axis are important in Gardner's syndrome, as well as in the etiology of anal cancer.

Gardner’s syndrome is a genetically determined disease characterized by a combination of colon polyposis, osteomas, and various soft tissue tumors. In this article, we discuss disease epidemiology, etiology, manifestations, and treatment methods. We also report a case of Gardner’s syndrome.

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]

Onboard aircraft medical emergencies are on the rise as commercial air traffic is increasing. However, thoracic injury secondary to air travel is extremely rare and, most reported injuries are cases of pneumothoraces. Spontaneous pneumomediastinum and pneumopericardium have been barely reported in the medical literature as a complication of air travel. We are reporting a case of spontaneous pneumopericardium and pneumomediastinum in a patient with Gardner's Syndrome after a flight from Central America to New York City. The patient presented with chest discomfort. He was managed conservatively with oxygen therapy as he was hemodynamically stable throughout his stay in the hospital. A thorough work up in hospital including and esophagogram and a CT scan of the chest were none revealing of the cause. However, the patient was noted to have metastatic rectal cancer with lung involvement. The patient was discharged with instructions to avoid air travel.

Osteomas are benign, slow-growing osteogenic tumors commonly occurring in the craniofacial bones. They are usually asymptomatic and can be discovered in routine clinical and radiographic examination. In this paper, we present a large solitary osteoma located in the occipital region causing aesthetic deformity and headache in a 22-year-old woman. Patient underwent radiographic examination with computed tomography followed by surgical excision and histopathological analysis.

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 report. 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. [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.

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]

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Gardner syndrome is a rare, autosomal dominant syndrome that follows a positive course with diagnosis and treatment by medical and dental specialists. General dental physicians can diagnose the syndrome through radiological images taken in addition to dental and skeletal findings. In this article a 45-year-old male patient with previously undiagnosed Gardner′s syndrome who presented for removal of painful mobile tooth is reported to illustrate the importance of detection and proper referral.

Gardner′s syndrome (GS) is an autosomal dominant, well-documented disease with characteristic systemic and maxillofacial manifestations. The diagnosis of GS is established by the presence of simultaneous findings of intestinal or colorectal polyposis and jaw pathologies. Multiple polyps of GS are likely to become carcinomas at older ages. Cooperation between medical disciplines is important in the diagnosis of GS. Patient with multiple adenoid polyposis should be referred to dental examination in order to discard GS. Dental radiographic examination may be crucial in the primary diagnosis of the disease. In this case report, a case of GS is presented with prominent histologic features and the importance of the dental examination in the diagnosis of GS is discussed.

Osteoma is a benign tumor which is composed of mature compact or cancellous bone. Osteoma may be periosteal (arising from surface of the bone) or endosteal (develop in the medullary bone) or combination of both. Here, we present a case of unusually large osteoma present on the lingual surface of the mandible in a 40-year-old female patient. The lesion had grown slowly for 15 years and caused intra-oral swelling leading to difficulty in mastication, speech and tongue movements. Under general anesthesia, local complete surgical excision was performed.

El síndrome de Gardner, una variante de la poliposis adenomatosa familiar, es una enfermedad hereditaria autosómica dominante caracterizada por la presencia combinada de múltiples pólipos intestinales y manifestaciones extraintestinales que incluyen osteomas múltiples, tumores del tejido conectivo carcinoma de tiroides hipertrofia del epitelio pigmentado de la retina, también son frecuentes la presencia de dientes supernumerarios retenidos y odontomas. Se presenta un caso clínico de un paciente masculino, de 20 años de edad que acude a consulta por presentar aumento de volumen en tres localizaciones de la región facial. Radiográficamente se constataron las imágenes radiopacas características del osteoma y con la rectosigmoidescopia la presencia de pólipos intestinales. La intervención quirúrgica de los osteomas se realizó bajo anestesia general que incluyó condilectomía del lado izquierdo. El diagnóstico histopatológico fue de osteoma ebúrneo. Un año después del procedimiento se observó clínicamente recuperación estética y funcional y radiográficamente buena regeneración ósea en al ángulo mandibular donde se encontraba el osteoma de mayor diámetro. El paciente ha tenido hasta la actualidad una evolución muy satisfactoria, con excelente apertura bucal. El objetivo es describir el manejo que se tuvo con un paciente con síndrome de Gardner en el Servicio de Cirugía Maxilofacial de Artemisa.Gardner's syndrome, a variant of familial adenomatous polyposis, is a dominant autosomal inherited disease characterized by multiple intestinal polyps together with extra-intestinal manifestations including multiple osteomas, connective tissue tumors, thyroid carcinomas, hypertrophied pigmented epithelium of the retina, and also frequent retained supernumerary teeth and odontomas. The objective of this paper was to describe the management of a patient with Gardner's syndrome at the maxillofacial surgery service in the province of Artemisa. The clinical case of a male patient aged 20 years, who went to the maxillofacial service on account of increased volume of the facial area in three sites. The X-rays showed radiopaque images characteristic of osteomas whereas rectosigmoidoscopy revealed intestinal polyps. The osteomas were surgically removed under general anesthesia including condylectomy on the left side. The histological-pathological diagnosis was osteoid osteoma. One year after the surgical procedure, the clinical exam showed esthetic and functional recovery and the radiographies disclosed good bone regeneration in the mandibular angle where the biggest osteoma was found. The patient has recovered very satisfactorily, with excellent oral opening.

Gardner′s syndrome is a variant of familial adenomatous polyposis. A multitude of extra-colonic manifestations including various endocrine tumors have been associated with this syndrome, the commonest of which is thyroid cancer. Majority of the patients with thyroid cancer and Gardner′s syndrome are females. Here we describe a male patient with Gardner′s syndrome who subsequently developed thyroid cancer.

Hyperdontia is an odontostomatologic anomaly characterized by an excess in both erupted and non-erupted teeth number. A23-year-old female patient reported to us with a chief complaint of malaligned teeth and inability to maintain oral hygiene. Extraoral examination did not reveal any abnormality. Intraoral examination revealed multiple supernumerary teeth in maxillary and mandibular premolar region. The teeth present were: 11, 12,13,14,16,17,18.21,22,23,24,25,26,27,28,31,32,33, 34, 35. 36, 37. 38, 41. 42, 43, 44, 45. 46, 47. 48. Apart from these teeth there were. One half erupted supernumerary tooth, distal to 14, one supernumerary tooth palatal to 14, one supernumerary tooth buccal to 15, one supernumerary tooth lingual to 34, one supernumerary tooth lingual to 36, one supernumerary tooth mesio lingual to 45,1 supernumerary tooth distolingual to 45. The panoramic radiograph was taken to study the presence of impacted teeth. It revealed- Two supernumerary teeth in 1st quadrant, three supernumerary teeth in 2nd quadrant, three supernumerary teeth in 3rd quadrant, one impacted mesial to 36, three supernumerary teeth in 4th quadrant, one impacted mesial to 46. Whenever, supernumerary teeth are diagnosed , a proper decision regarding the appropriate management should be made carefully_ In our opinion, the management of multiple supernumerary teeth poses a great challenge to clinicians. Therefore, it vital to for an interdisciplinary approach for the treatment.

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]

Porokeratosis represents a heterogeneous group of disorders characterized clinically by a distinctive ridge-like border and histologically by cornoid lamellae. Gardner′s syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by colorectal polyps, osteomas, epidermoid cysts and soft tissue tumors. Here we report a case of 18 yr old female who presented with porokeratosis of Mibelli with osteoma, multiple epidermoid cytsts, and solitary rectal polyp.

Mesenteric Fibromatosis (MF) is a proliferative fibroblastic lesion of small intestinal mesentery. It constitutes 8% of all desmoid tumours, which represent 0.03% of all neoplasm. It is histologically benign but may invade locally and recur after excision. It occurs sporadically or in association with Familial adenomatous polyposis (FAP) mutation as a component of Gardner’s syndrome. The presenting features of MF are asymptomatic abdominal mass, abdominal discomfort or pain, bowel or ureteral obstruction, intestinal perforation, fistula, functional impairment of ileoanal anastomosis following colectomy in FAP cases. A 29-year-old male presented with a swelling on the right side of the umbilicus for six months and dull aching pain for two months. Fine needle aspiration cytology, ultrasonography, contrast enhanced computerized tomography findings were inconclusive. After Exploratory laparotomy, a mass approx 6x5x4 cm in ileal mesentery was identified and excised along with 20cm of ileum. End to end anastomosis was done and specimen was sent for histopathology which confirmed the diagnosis of MF. Considering the rarity of this tumour and difficulties in diagnostic and therapeutic ambit, we believe it is justified to describe this case which came to our observation.

Gardner's syndrome (GS) is a genetic disorder characterised by intestinal polyps, multiple osteomas, and soft-tissue tumours. Dentists play an important role in the syndrome diagnosis considering that craniomaxillofacial osteomas are a major criteria for Gardner's syndrome diagnosis. This study aimed to describe the main stomatological manifestation of GS and the importance of dentists in its diagnosis. Two patients presenting GS were evaluated. The first one had two osteomas in the mandible and GS was suspected. The colonoscopy confirmed the presence of polyposis and a prophylactic proctocolectomy was performed. The other patient had a late-stage diagnosis of GS and developed a rectum adenocarcinoma. The presence of craniomaxillofacial osteomas are a hallmark of the disease. Early-stage GS diagnosis may enable early diagnosis and preventive strategies in carriers. Other dental abnormalities, such as supernumerary teeth, hypercementosis and odontomas, can also be observed. [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]

OBJECTIVE: Osteomas are benign tumors that frequently affect the craniofacial region, especially the temporal bones, jaw and sinus. This lesion very rarely involves the maxillary bones. The aim of our study is to describe our surgical case series and to evaluate the diagnosis and management of peripheral craniofacial osteomas with a review of the literature. PATIENTS AND METHODS: We retrospectively analyzed a series of 14 patients that underwent surgery for the removal of a craniofacial osteoma, 10 cases were peripheral osteoma of the lower jaw and 4 were peripheral osteomas of the upper jaw. The 14 patients included 8 females and 6 males, with a mean age of 42 years. The median follow up period was 48 months. RESULTS: All patients received a total surgical removal and we did not have any intraoperative complications with optimal cosmetic and functional results. Pain resolved in all cases and a single case postoperative dysesthesia occurred. NO recurrence has been detected at last follow-up visit. CONCLUSIONS: Osteomas must be well identified and differentiated from other solid diseases of the bone and should be treated if symptomatic. The elective treatment is surgical removal, resulting in a complete resolution of the pathology. [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]

Adenomatous polyposis coli (APC) gene is a tumor suppressor gene and its truncated mutations cause a few cilia-related diseases such as Gardner's syndrome. However, little is known about the mechanism that links APC mutations and cilia disorder. APC mutations lead to the expression of N-terminal fragments, which have dominant effects in tumors owing to loss of the C-terminal region or a gain of function. The present study investigated the impact of tumor-associated N-terminal APC fragments on primary cilia assembly and the possible molecular mechanism involved. We discovered that expression of tumor-associated N-terminal APC fragments (APC-N, APC-N1, APC-N2, and APC-N3, which contain amino acids 1-1018, 1-448, 449-781, and 782-1018 respectively), resulted in primary cilia defects. We found that a β-catenin/PI3K/AKT/GSK-3β feedback signal cascade is responsible for causing N-terminal APC fragment-induced cilia defects. In this cascade, dysfunctions of both β-catenin and GSK-3β were involved in the up-regulation of HDAC6 and subsequent decreased acetylated tubulin levels, which thereby led to cilia defects. These data suggest a mechanism for linking N-terminal APC fragments and cilia loss, thus accelerating our understanding of human cilia-related diseases such as Gardner's syndrome and their cause due to APC mutations. [ABSTRACT FROM AUTHOR]

Abstract: INTRODUCTION: Desmoid tumor (DT) is a common manifestation of Gardner's Syndrome (GS), although it is a rare condition in the general population. DT in patients with GS is usually located in the abdominal wall and/or intra-abdominal cavity. PRESENTATION OF CASE: We report a case of a 32 years-old female patient with familial adenomatous polyposis (FAP), who was already submitted to total colectomy and developed multiple DT, located in the abdominal wall and in the left breast. The patient underwent several surgical procedures, with a multidisciplinary team of surgeons. Wide surgical resections of the left breast and the abdominal wall tumors were performed in separate steps. Polypropylene mesh reconstruction and muscle flaps were needed to cover the defects of the thoracic and abdominal walls. After partial necrosis of the adipose-cutaneous flap in the abdomen that required a new skin graft, she had a satisfactory outcome with complete healing of the surgical incisions. DISCUSSION: DT is frequent in GS, however, breast localization is very rare, with few cases reported in the literature. Recurrence of DT is not negligible, even after a wide surgical resection. GS patients must be followed up closely, and clinical examination, associated with imaging studies, should be performed to detect any signs of tumor. CONCLUSION: DT represents one of the most significant causes of the morbidity and mortality that affects FAP patients following colectomy. In general, the surgical procedures to excise DT are highly complex, requiring a multidisciplinary team. [Copyright &y& Elsevier]