Search

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

We report one case of adenomatous polyposis of the gallbladder in a 57 year-old woman with Gardner's syndrome presenting with cholangitis. On gross examination the gallbladder contained two calculi and numerous flat or polypoid adenomas less than 1 cm in size. On microscopic examination, the adenomas showed low and high grade intraepithelial neoplasia. Only 10 cases of gallbladder adenomas have been reported in the literature in patients presenting with familial adenomatous polyposis (FAP). Cholecystectomy is usually performed for cholecystitis or cholangitis. These adenomatous gallbladder lesions are discovered late, often when the patient is older than 40. Pathogenesis of gallbladder adenomas is still unclear. It is difficult to assess the risk of malignancy: only 6 cases of gallbladder adenocarcinomas have been reported in patients with FAP.

Fibromatosis (Desmoid tumor) of the male breast is an exceptional location. We present a case of such a tumor, in the context of Gardner's syndrome. A palpable mass was discovered in the right breast of a 52 years old man, with a history of rectocolic adenomatous polyposis. Mammography ant thoracic CT scan showed a stellar tumor, mimicking a breast cancer. Treatment consisted of wide excision and histology revealed a desmoid tumor. Desmoid tumors of the breast are benign lesions; they should be widely excised because of a high risk of recurrence. Coloscopy is indicated in the presence of mammary fibromatosis, to look for associated multiple polyps, confirming the diagnosis of Gardner's syndrome.

Familial adenomatous polyposis (FAP) and Gardner syndrome are mendelian dominant inherited conditions. Both diseases are linked to mutations on the long arm of chromosome 5 (5q21) referred to as the adenomatous polyposis locus. Gardner syndrome involves endodermal, mesodermal and ectodermal layers. Nondigestive and maxillofacial lesions such as osteomas, odontomas, epidermoid inclusion cysts can disclose the syndrome. Colorectal cancer is the most important factor of prognosis.

Aggressive fibromatosis of the breast is an uncommon benign disease. The clinical and X-Ray findings can simulate breast cancer. The diagnosis relies on histology. The typical feature of this disease is a locally aggressive but non metastasizing lesion with high recurrence rate. Treatment consists in wide excision. The role of radiation and drug therapy including antiestrogens has not been clearly established. Colonoscopy is indicated to research for an association with Gardner syndrome.

Gardner's syndrome ie an autosomal dominant disease characterized by the association of a polyposis coli with one or more of specific extracolonic manifestations. A lebanese family is reported. Polyposis coli, desmoid tumors, gastroduodenal polyps, procreation counselling etc. are difficult problems to manage in this syndrome.

Recently a few cases of pigment epithelium hypertrophy associated with Gardner's syndrome and familial polyposis have been described. The authors report the results of an ophthalmoscopic investigation on patients affected by Gardner's syndrome and familial polyposis. The importance of the ophthalmoscopic finding associated with this type of intestinal pathology is discussed.

Through a family form study and a literature review, the authors define the symptoms of the Gardner's disease and the checkup to be carried out. Sometimes, the surgical treatment, proposed in an aesthetical purpose, is difficult to carry out due to the tumor location and consistency. Incomplete forms are likely to be more frequent but the risk of colic degeneration remains the same as for the usual form. Examination and multi-departmental care are required.

We report two cases of retroperitoneal desmoid tumours in patients with Gardner's syndrome. These tumours are rare and of poor prognosis. In our two cases, the predominant clinical manifestations were caused by compression of the ureters, bladder and nerve roots. In the first patient, the tumours developed after colectomy, while in the second patient the discovery of the desmoid tumour preceded that of a cancer of the colon. Finally, in the first patient, an attempted treatment with a non-steroidal anti-inflammatory agent (sulindac) had to be discontinued after 4 months on account of side-effects.

We report 12 cases of cystic glandular fundic polyps detected in 7 women and 5 men. As in the 238 similar previously reported cases these lesions were always located in the fundic gastric mucosae and did not involve the muscularis mucosae. They were discovered by endoscopy in patients with minor abdominal discomfort. They were less than 5 mm in diameter and were more often multiple and sessile; only a few of them were pedunculate. They consisted of mucosal cysts lined with cuboidal, parietal or chief cells and surrounded with a normal lamina propria. If in 213 cases, these polyps were not associated with polyposis coli in 37 cases they occurred with a Gardner's syndrome or a familial adenomatosis coli. These benign lesions are without malignant potential. Careful gastroscopic follow up with biopsy is recommended for all patients with multiple gastric polyps. The etio-pathogenesis of these polyps is still unknown. Their relationship to familial polyposis coli or to Gardner's syndrome is obscure.

The hitherto undescribed association of Gardner's syndrome (familial adenomatous polyposis coli, abdominal fibromas, osteoma, dental abnormality, cystic fundic gland polyposis) with a thymic epidermoid cyst in a 38 year old woman is reported. Thymic cyst was discovered on a routine chest roentgenogram, and diagnosis, suspected by CT findings, was established by histological examination of surgical material. The authors suggest that this association is not fortuitous.

3 cases of desmoid tumours of the mesentery occurring as part of Gardner's syndrome are reported. In 2 cases, CAT scanning was carried out. We underline the value of this examination compared to other imaging methods. It allows the establishment of a diagnosis, investigation for complications, the operability to be assessed and is useful for monitoring patients. Its major value is in avoiding an unnecessary laparotomy, a factor certain to produce recurrence, in certain patients. Other alternative therapy may then be proposed.