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

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

Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association.

This report details the case of a girl of primary school age who was referred to our plastic surgery department with an ulcerating lesion on the nape of her neck. A firm mass was palpable in the underlying subcutaneous tissue. This lesion was accompanied by two smaller firm nodules: one in the adjacent tissue and another in the left preauricular region. Ultrasound and MRI demonstrated multiple calcified nodules confined to the subcutaneous tissue. An incisional biopsy of the ulcerating lesion confirmed a diagnosis of perforating pilomatrixoma; the lesion was subsequently excised, with no sign of recurrence at 3-month follow-up. The patient had a history of lymphovascular malformation (LVM) and a paternal history of Gardner's syndrome. Pilomatrixoma and Gardner's syndrome have a well-documented association in existing literature; aberrant Wnt/beta-catenin signalling is common to both. Recent laboratory studies suggest this pathway is also implicated in the pathogenesis of LVM.

Giant mesenteric fibromatosis associated with non-Hodgkin lymphoma. A case report and literature review.

BACKGROUND: Mesenteric fibromatosis is a benign locally-aggressive mesenchymal neoplasm that lacks the potential for metastasis. It is related to Gardner's Syndrome, previous trauma, abdominal surgery, and prolonged intake of oestrogen. Differentially diagnosing this from similar tumours is crucial in order for establishing the appropriate treatment and only immunohistochemical features can be used for a definitive diagnosis. Although medical therapies play a role in the treatment of mesenteric fibromatosis, surgical resection is the gold-standard procedure. METHODS: Our case study is a 40-year-old male with a concomitant diagnosis of non-Hodgkin lymphoma and mesenteric fibromatosis, not associated with any of the risk factors mentioned above. We performed CT and PET scans and observed a vascularised and well-defined mesenteric centre-abdominal hypermetabolic solid mass in contact with the gastric body, duodenum, body and tail of the pancreas, transverse colon, and spleen. An ultrasound-guided tru-cut biopsy revealed features suggestive of mesenteric fibromatosis. RESULTS: An elective laparotomy was carried out and a giant mass, arising from mesentery, was excised, including a partial gastrectomy and segmental resection of the transverse colon. Distal pancreatectomy, small bowel resection and successive splenectomy were performed due to a large hypertensive component. The postoperative period was uneventful. The histopathology of the surgical pieces was compatible with intra-abdominal desmoid fibromatosis. CONCLUSION: As far as we know from the literature, this is the largest mesenteric fibromatosis tumour ever to be excised. We also noticed that this is the first reported case of the concomitant presence of mesenteric fibromatosis and non-Hodgkin lymphoma that is not related to any of the described risk factors. Further research is needed to establish what type of association this presentation may indicate.

Percutaneous ultrasound-guided radiofrequency ablation for giant desmoid tumors of the intra-abdominal cavity in a patient with Gardner syndrome.

Gardner syndrome (GS) is a rare variant of familial adenomatous polyposis, leading to numerous intra- and extracolonic lesions. Extracolonic lesions of GS are most common with desmoid tumors (DTs) in the abdominal wall, intra-abdominal cavity, and mesentery. Surgery remains the primary treatment for DTs; however, the patients are challenged with the high recurrence rate after surgical resection, and wide resection often results in debilitating loss of function. This study presents a case of a 47-year-old female with GS who had undergone total colectomy and ultra-low anastomosis of the ileal anal canal, and she developed giant DTs in the intra-abdominal cavity. The patient underwent ultrasound-guided percutaneous radiofrequency ablation (RFA) for intra-abdominal DTs in September 2014, October 2015, and January 2016. Palliative RFA significantly slowed the progression of the tumor and improved the symptoms of abdominal compression; thus, it is a possible therapeutic option for intra-abdominal unresectable DTs in patients with GS.

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis.

Gardner fibroma (GF) is a benign soft-tissue tumor that is associated with Gardner syndrome and can progress to, or co-occur with, desmoid fibromatosis (DF). Herein, we report a unique case of an 11-year-old boy who presented with a rapidly growing soft-tissue mass after biopsy of a stable fat-rich lesion present in the calf muscles since infancy, with Magnetic resonance imaging findings suggesting an intramuscular adipocytic tumor. The resection showed GF and DF. DF arising from a preexisting GF (the so-called "GF-DF sequence") is a well-documented phenomenon. Although immunohistochemistry was negative for nuclear ß-catenin expression, a CTTNB1 S45F mutation, which has been associated with aggressive behavior in DF, was identified in both components using a next-generation sequencing-based molecular assay. This is the first time a mutation in CTNNB1 has been identified in GF and the GF-DF sequence, thus expanding our knowledge of the molecular pathogenesis of the GF-DF sequence and highlighting the role of molecular testing in pediatric soft-tissue tumors. The histologic findings of an adipocyte-rich intramuscular GF also are unique, expanding the morphological spectrum of GF and adding GF to the differential diagnosis of intramuscular lesions with an adipocytic component.

Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report.

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 cm2 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 syndrome due to mediastinal Gardner fibroma presenting as syncope.

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

A Case Report on Gardner Syndrome With Dental Implant Treatment and a Long-Term Follow-Up.

A case of Gardner syndrome (GS) in a 37-year-old woman is presented in which rehabilitation with dental implant treatment was followed for 7 years. The course of diagnostics and treatment is followed through an overview of 45 tissue biopsy and cytology samples during a period of 30 years. The patient was diagnosed with GS after a routine review of an oral panoramic radiograph presenting with multiple osteomas and multiple unerupted supernumerary teeth. Biopsy results and surgical procedures with histopathologic diagnoses from 1986 to 2016 are presented. Histologic analysis of the sampled jawbone showed a picture similar to an osteoid osteoma. The installed implant was functionally stable, with no clinical or radiographic events observed at yearly visits, for 7 years. In 1991, benign tumors appeared; in 2014, multiple adenomas were found in the small intestine and rectum. This case report shows the potential for dental implant treatment in a patient with GS.

Reconstruction of a large full-thickness abdominal wall defect with flow-through-based alt flaps: A case report.

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.

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

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

Gardener-associated fibroma: an unusual cause of upper airway obstruction.

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.

Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome.

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.

Gastroduodenectomía total con preservación pancreática para el tratamiento del síndrome de Gardner con poliposis gastroduodenal y degeneración maligna / Total gastroduodenectomy with pancreatic preservation for the treatment of Gardner's syndrome with gastroduodenal polyposis and malignant transformation

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Adenomas of the common bile duct in familial adenomatous polyposis.

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.

Ameloblastic carcinoma with features of ghost cell odontogenic carcinoma in a patient with suspected Gardner syndrome.

Ameloblastic carcinoma and ghost cell odontogenic carcinoma are rare malignancies arising in odontogenic epithelium within the jaws. Gardner syndrome is a multifaceted autosomal dominant condition, which results in multiple dentofacial anomalies along with premalignant colon polyp formation and tumor formation in the skin and other organs. We report a case of ameloblastic carcinoma with features of ghost cell odontogenic carcinoma and extensive clear cell change and melanin pigmentation in a patient with clinical features of Gardner syndrome. To the best of our knowledge, odontogenic carcinoma arising in a patient with features of Gardner syndrome has not been reported previously. The clinical, radiographic, and histologic features of the case are discussed along with a review of the relevant literature.

The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising 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.

Disease-related intestinal transplant in adults: results from a single center.

Intestinal transplantation is gaining worldwide acceptance as the main option for patients with irreversible intestinal failure and complicated total parenteral nutrition course. In adults, the main cause is still represented by short bowel syndrome, but tumors (Gardner syndrome) and dismotility disorders (chronic intestinal pseudo-obstruction [CIPO]) have been treated increasingly by this kind of transplantation procedure. We reviewed our series from the disease point of view: although SBS confirmed results achieved in previous years, CIPO is nowadays demonstrating an excellent outcome similar to other transplantation series. Our results showed indeed that recipients affected by Gardner syndrome must be carefully selected before the disease is to advanced to take advantage of the transplantation procedure.

Percutaneous image-guided cryoablation in inoperable extra-abdominal desmoid tumors: a study of tolerability and efficacy.

OBJECTIVE: To determine the tolerability, effectiveness and outcomes of percutaneous image-guided cryoablation on inoperable extra-abdominal desmoid tumors. METHODS: Between 2011 and 2012, 13 patients (mean age 39.3 years, range 15-74) with inoperable extra-abdominal desmoid tumors were consecutively treated with cryoablation (17 tumors treated in 17 procedures), including two patients with Gardner syndrome and nine recurrences after surgery. Disease-free survival (DFS) and local control based on RECIST criteria were calculated on prospective clinical and imaging follow-up until 2013. RESULTS: Cryoablation was performed under ultrasound (n = 8), computed tomography (n = 1), or combined (n = 8) guidance, and under general (n = 15) or local (n = 2) anesthesia. A major complication was observed in one session (5.8%). Mean follow-up was 11.3 months (6-27 months). Among all the patients treated, eight patients (47%) presented residual tumors on the first magnetic resonance follow-up, which were asymptomatic. The DFS rate was stable at 82.3% (95% confidence interval 0.55-0.94) at 6, 12, and 24 months. The local tumor progression rate was 0% at 6, 12, and 24 months. Two patients (12%) presented an in situ recurrence. CONCLUSIONS: Despite high rates of partial ablation, percutaneous image-guided cryoablation appears to be safe and effective for local control for patients with inoperable extra-abdominal desmoid tumors.