title: [A rare case of Gardner's syndrome complicated with rectal carcinoma].
abstract: Gardner's syndrome is a rare variant of the Familial Adenomatous Polyposis (FAP) in which affected individuals develop thousands of polyps within the gastrointestinal tract, with a 100 % risk of eventual malignant change. They also have a variety of extraintestinal abnormalities - various soft and hard tissues tumors like fibroma, osteoma, epidermoid cysts, sebaceous cysts on the scalp. Gardner's syndrome is an autosomal dominant disease, caused by mutations in APC ( adenomatous polyposis coli ) gene, which is located in chromosomal locus 5q21- q22. Firstly it has been described in 1953 by Gardner and Richards. They have investigated a family of 51 members with polyposis, some of them with multiple epidermoid cysts, fibromas and jaw osteomas. Eight of them have died by colorectal carcinoma. If undetected or untreated virtually all patients develop colonic carcinoma at a young age. Due to this high risk of malignancy the patients with Gardner's syndrome usually undergo surgical treatment by total or subtotal proctocolectomy. We report a case with Gardner's syndrome - a 36 year-old male who has been operated on in Department of Surgery in Vth city clinical hospital in October 2003. He had multiple adenomatous polyposis of colon, rectal cancer, osteomas of skull bones, subcutaneous fibromas and lipomas. We discovered also by ultrasound examination a polyp of gall bladder. His father has had also multiple polyposis with malignancy and metastatic lesions and he has died at age of 49 years. We performed total proctocolectomy with definitive iliac anus and cholecystectomy.
authors.forename: I
authors.initials: I
authors.lastname: Bliznashki
authors.forename: M
authors.initials: M
authors.lastname: Minev
authors.forename: A
authors.initials: A
authors.lastname: Mikhova
authors.forename: M
authors.initials: M
authors.lastname: Velev
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D000328:Adult; D002763:Cholecystectomy; D004814:Epidermal Cyst / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D010016:Osteoma / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D016737:Proctocolectomy, Restorative; D012004:Rectal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery