Gardner's syndrome - a case report. (1/34)

Gardner's syndrome is the association of multiple colonic polyps (familial adenomatous polyposis coli - FAP) with sebaceous cysts and jaw osteomas. The significance of this dominantly inherited condition to the dentist is that the colonic polyps usually undergo malignant change by the fourth decade and the extra-intestinal lesions may be apparent before those in the bowel. As such, early detection of multiple jaw osteomas and/or multiple sebaceous cysts (particularly on the scalp) may lead to appropriate further investigation and treatment which might be life saving. Diagnosis of this condition also has implications for other family members.  (+info)

Treatment of desmoid tumours in Gardner's syndrome. (2/34)

A 24 year old woman with Gardner's syndrome developed a massive chest wall desmoid tumour, which required radical excision and prosthetic reconstruction. In view of the local aggressiveness of this tumour and the fact that it does not metastasize a policy of radical surgery when possible is recommended.  (+info)

Peripheral osteoma of the maxillofacial region. Diagnosis and management: a study of 14 cases. (3/34)

PURPOSE: The purpose of the article was to present 14 new cases of peripheral osteoma and to evaluate the diagnosis and management of peripheral osteoma of the maxillofacial region with an analysis of the literature. PATIENTS AND METHODS: The records of 14 consecutive patients (6 males and 8 females) referred for the management of peripheral osteoma the maxillofacial region were reviewed. Demographic data, location, presenting symptoms, radiographic findings, bone scan, colonoscopy results and surgical management were analyzed. The criteria used to diagnose peripheral osteoma included radiographic and histologic features. RESULTS: The 14 patients, ranged in age from 13 to 79 years with a mean age of 40.5 years. The lesions were located in the mandible (64%), maxilla (7%), temporal bone (22%) and maxillary sinus (7%). Colonoscopy results performed in 10 subjects were negative. Surgical excision was the treatment of choice with good results. There were no complications or recurrences. CONCLUSIONS: Peripheral osteoma of the jaw bones is uncommon. The post surgical follow-up should include periodic clinical and radiographic studies. Patients with osteoma associated with impacted or supernumerary teeth, should be evaluated for the possible Gardner's syndrome.  (+info)

Gardner's syndrome: a case report and review of the literature. (4/34)

Gardner's syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas and a multitude of soft tissue tumors. The syndrome may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 11-year-old female patient with Gardner's syndrome who presented with a lumbar area desmoid tumor and treated with resection of the desmoid, restorative proctocolectomy and ileal pouch anal anastomosis, A review of the current literature has been performed.  (+info)

Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description. (5/34)

Familial Adenomatous Polyposis (FAP) and its phenotype variant, Gardner's syndrome, constitute a rare autosomal dominant inherited disorder. They are characterised by the development, generally during the second and third decades of life, of multiple adenomatous polyps in the colon and rectum. These polyps have a high risk of subsequently becoming malignant, which normally occurs in the third and fourth decades of life. The phenotypical features of FAP can be very variable. As well as colorectal polyps, these individuals can present with extra-colonic symptoms, among which are particularly: gastro-duodenal polyps, dermoid and epidermoid cysts, desmoid tumours, congenital hypertrophy of the retinal pigment epithelium, disorders of the maxillary and skeletal bones and dental anomalies. In this paper the most important aspects of this syndrome are reviewed, showing an example based on a well documented clinical case. The importance of odonto-stomatological examinations should be pointed out, among others, as a means of reaching a presumptive diagnosis, whose confirmation is vital to the patient.  (+info)

The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. (6/34)

A polyposis register has been established in the Northern Region of England. A total of 48 families with 71 living affected subjects has been identified during the first three years of operation, a prevalence of 2.29 x 10(-5). Indirect ophthalmoscopy identifies the majority of gene carriers by showing multiple areas of congenital hypertrophy of the retinal pigment epithelium (CHRPE). The absence of this sign in families limits its value where a relative with CHRPE has not been identified. Combining eye examination with data on age of onset and linked DNA markers is highly effective in carrier exclusion; 38% of 528 first, second, and third degree relatives had their carrier risk reduced to less than 1 in 1000. Even with such assurance many subjects will request continued bowel screening at a reduced frequency. Little interest has been shown in prenatal diagnosis. The principal value of a genetic register with domiciliary nurse visiting is the reduction in early mortality among unrecognised gene carriers.  (+info)

Ureteral reconstruction and bladder augmentation using intestinal allograft in a modified multivisceral transplant patient. (7/34)

Segments of ileum are used as conduits following ureteral resection and for bladder augmentation to achieve adequate bladder capacity. We herein report the use of a segment of transplanted ileum for this purpose in a patient with Gardner's syndrome who underwent multivisceral transplantation. To our knowledge this is the first such case report.  (+info)

Gardner's syndrome: genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: a case report. (8/34)

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