[Generalized intestinal polyposis. Peutz-Jeghers syndrome. Gardner syndrome].
Explore the source record for details and available documents.
Gardner Syndrome↗
SEARCH · Search PubMed
Results for “Gardner Syndrome”
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
[Fundus oculi test in the detection of Gardner syndrome].
Gardner's syndrome is an adenomatous polyposis coli characterized by extracolonic manifestations such as congenital hypertrophy of retinal pigment epithelium. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so it is important to detect affected patients early. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized to the long arm of the fifth chromosome. The results of investigation in 3 families are reported herein and compared with the data of the literature.
Adolescent↗
[Polyposis coli syndrome--Gardner's syndrome, Zanca's syndrome and Turcot syndrome].
Explore the source record for details and available documents.
Adolescent↗
[Multiple adenomas of the upper gastrointestinal tract with peripapillary carcinoma in Gardner syndrome].
A Gardner syndrome can be diagnosed, if an adenomatosis of the colon is associated with tumors of the bone and soft tissues and anomalies of dentition. Adenomas of the upper gastrointestinal tract may occur as well as some time after colectomy. A case report is given of a 51-year-old man suffering from Gardner syndrome, who had developed on the basis of an adenomatosis of the duodenum a peripapillary adenocarcinoma, which was treated successfully. This case report shows, that in patients with Gardner syndrome also the upper gastrointestinal tract should be searched for malignant disease.
Adenocarcinoma, Papillary↗
The Gardner syndrome.
The Gardner syndrome is characterized by polyposis coli and multiple hard and soft tissue tumors. A case of a 17-year-old male is presented who complained of painless and hard swellings on the angle of the mandible bilateraly. The patient presented the original triad of lesions of the Gardner syndrome. On the panoramic X-ray, characteristic radio-opaque lesions (exostoses and enostoses) on the jaws were shown and a compound odontoma was detected in the left side of the mandible.
Adolescent↗
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome.
Familial adenomatous polyposis (FAP), Gardner syndrome (polyposis, osteomas and epitheliomas), flat adenoma syndrome (attenuated APC) and Turcot syndrome (colorectal polyposis with brain tumours) are distinctive clinical syndromes. Each is caused by mutations in the adenomatous polyposis coli (APC) gene on chromosome 5q21, although Turcot syndrome may have other causes. A variety of APC mutations are recognized, which can be associated with the character and severity of the clinical syndromes.
Adenomatous Polyposis Coli↗
Penetrance and expressivity of the gene responsible for the Gardner syndrome.
The Gardner syndrome is an autosomal dominant condition characterized by multiple polyposis of the colon, associated with various soft- and hard-tissue tumors. Our original kindred, first reported in the early 1950's has been updated and serves as the basis for a discussion of the penetrance and expressivity of the gene responsible for the syndrome. The family consists of 188 members spread over six generations, with 28 individuals clearly documented as having the syndrome. Using two different methods of calculating penetrance, the responsible gene was found to be fully penetrant. This observation was confirmed by an analysis of 160 additional sibships from the literature. This estimation of penetrance is considerably higher than has been previously reported. The expressivity of the gene, however, is quite variable, and this is illustrated using examples from both our kindred and the literature.
Colonic Neoplasms↗
Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis.
PURPOSE: Gardner syndrome, a variant of familial adenomatous polyposis, is characterized by colonic polyps that undergo malignant change and benign and malignant extracolonic lesions. Tumors frequently associated with Gardner syndrome include carcinoma of the ampulla of Vater, papillary carcinoma of the thyroid, and, in children, hepatoblastoma. The childhood malignancies often precede the appearance of other manifestations by several years. PATIENTS AND METHODS: Two patients are described. Gardner syndrome was diagnosed in a 15-year-old girl with fibrolamellar hepatocellular carcinoma after desmoid tumors and colonic polyposis developed. Classic hepatocellular carcinoma was also diagnosed in a 9 1/2-year-old boy with familial adenomatous polyposis. RESULTS: In patient 1, the diagnosis of fibrolamellar hepatocellular carcinoma preceded the diagnosis of Gardner syndrome by almost 2 years. The diagnosis was confirmed by identifying a germline mutation of the adenomatous polyposis coli (APC) gene. This is the first patient reported with fibrolamellar hepatocellular carcinoma associated with Gardner syndrome. Patient 2 had a strong family history of familial adenomatous polyposis but no manifestations of Gardner syndrome. He was not tested for the APC mutation. The current literature and previously reported cases of hepatocellular carcinoma in patients with Gardner syndrome or familial adenomatous polyposis are reviewed. CONCLUSIONS: Because hepatocellular carcinoma is uncommon in the pediatric and adolescent population, it is important to consider the possibility of Gardner syndrome or familial adenomatous polyposis in these patients.
Adenomatous Polyposis Coli↗
The Gardner syndrome. Significance of ocular features.
Gardner syndrome is a dominantly inherited familial cancer syndrome characterized by intestinal polyposis, bony hamartomata, and various soft tissue tumors. The risk of malignancy during adult life is essentially 100%, but as yet no phenotypic marker nor biochemical or serological linkage have been useful to identify the presence of the gene in early life. We studied three families in which multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium are related uniquely to other phenotypic features of the Gardner gene. This readily identifiable characteristic may be useful to identify early in life individuals at risk for malignancy. We also suggest that the Gardner syndrome may be genetically heterogeneous.
Adult↗
Sudden death from hyponatremia and hypokalemia in a woman with Gardner syndrome.
The authors present the case of a 39-year-old woman with Gardner syndrome who died from marked hyponatremia and hypokalemia. Gardner syndrome is a rare variant of the familial adenomatous polyposis syndrome in which the affected individual develops thousands of polyps within the gastrointestinal tract, with a 100% risk of eventual malignant change. Individuals with Gardner syndrome also develop a variety of extra gastrointestinal abnormalities. In the case presented, a woman with a clinical history of Gardner syndrome who had previously undergone a total colectomy with ileorectal anastomosis presented to the hospital with a recent history of sore throat, fever, diarrhea, and abdominal pain. The symptoms were considered clinically to be due to a viral gastroenteritis. She was admitted to the hospital, where she had episodes of collapse believed to be vasovagal in origin. She suffered a cardiorespiratory arrest and died 24 hours after admission. After her death, electrolyte estimation performed on blood taken shortly before death revealed severe hyponatremia and hypokalemia. Postmortem examination showed the gastric mucosa to be virtually covered by innumerable adenomatous and hyperplastic polyps. Fewer polyps were seen within the small bowel. There was no evidence of malignancy. The features were consistent with Gardner syndrome. Hyponatremia and hypokalemia have been described in patients with villous adenomas and in familial adenomatous polyposis syndromes associated with numerous colonic polyps. The cause of death in this case was considered to be hyponatremia and hypokalemia associated with florid gastric polyps in a woman with Gardner syndrome. Viral gastroenteritis contributed to the death by causing further electrolyte depletion. To the best of the authors' knowledge, death in Gardner syndrome has not been described as attributable to such metabolic disturbance, in particular in those who have only gastric, small bowel, and rectal polyps remaining after total colectomy.
Adult↗
[Gardner syndrome].
A case of Gardner syndrome associated with alterations of the skin and bones and precancerous gastrointestinal polyposis is presented. Particular interest attached to the extension of polyposis to the entire digestive tract, the early appearance of abdominal signs attributable to the polyposis, and - as new symptoms - polycystic lung and widespread superficial naevus lipomatosus.
Adolescent↗
[Contribution of maxillofacial signs in the diagnosis of Gardner 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.
Child, Preschool↗
Benign osteoma with Gardner syndrome: review of the literature and report of a case.
Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine (duodenum), multiple osteomas, and skin and soft tissue tumors. Cutaneous findings include epidermoid cysts, desmoid tumors, and other benign tumors. Polyps have a 100% risk of undergoing malignant transformation; consequently, early identification and therapy of the disease are critical. Osteoma is a benign neoplasm of bone tissue that is characterized by slow continuous growth and is the most common accompanying bone lesion seen in Gardner syndrome. The authors report a case of Gardner syndrome that was operated on because of the mandibular osteoma.
Gardner Syndrome↗
The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic report.
Gardner syndrome, a phenotypic variant of familial adenomatous polyposis, is characterized by the classical clinical triad of skin and soft tissue tumours, osteomas and intestinal polyposis, but disease patterns with pairs of these findings have also been reported. Different mutations in the adenomatous polyposis coli (APC) gene have been shown to be associated with Gardner syndrome disease phenotypes. A 36-year-old patient presented with multiple epidermal cysts on the face, left ear lobe and neck, and the possible diagnosis of Gardner syndrome was based on the additional findings of two classical osteomas in the left radius and ulna and a cold non-malignant nodule of the thyroid gland. Intestinal polyposis was lacking at the time of examination. Major deletions but not microdeletions were excluded by a cytogenetic analysis with 650 chromosomal bands per haploid set. Systematic sequencing of the entire coding region of the APC gene (> 8500 bp) of the patient and five healthy controls was also performed. As a results, new APC gene polymorphisms were identified in exons 13 [A545A (A/G)] and 15 [G1678G (A/G), S1756S (G/T), P1960P (A/G)]. We also detected D1822V (A/T) which has recently been reported to be potentially related to colorectal carcinoma, and genotyped 194 randomly chosen healthy individuals from the Glasgow area for this as well as for the above variants in exons 13 and 15. Interestingly, of the 194 controls, 112 carried the DD (57.7%), 71 the DV (36.6%), and the remaining 11 (5.7%), including our patient, the VV genotype. It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. In conclusion, we failed to identify obvious germline candidate mutations in > 8500 bp of the coding region of the APC gene in a patient with multiple epidermal cysts, osteomas and a thyroid gland nodule; major chromosomal deletions were excluded. Therefore, we assume that only the presence of intestinal polyposis is a marker for Gardner syndrome.
Adult↗
[A case contribution to the Gardner syndrome].
As to its course the Gardner syndrome is similar to a chronic disease and has the following symptoms: 1. Fibro-epithelial tumours of the skin with first symptoms in early childhood. 2. Osteomes, osteofibromas, desmoids mainly located in the cranial region. 3. Disturbances of the dental development in the form of tooth retentions, persistence of milk teeth and supernumerary tooth germs. 4. Intra- and retroperitoneal or intramesenteric fibromatoses which scarcely become clinically manifest. 5. Intestinal polyposis occurring in most cases only in the third decade of life. The tumours of the skin, of the connective tissue and of the bone are always benign, whereas the intestinal polypi show a considerable tendency toward malignant degeneration. For this reason, the prognosis of the Gardner syndrome must be considered unfavourable. On the basis of a case report, the clinical symptoms and findings in the maxillofacial region are outlined.
Adult↗
Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis.
Gardner syndrome (GS), caused by mutations in the adenomatous polyposis coli (APC) gene, is characterized by polyposis coli, osteomas, and various soft-tissue tumors. If undetected or untreated, virtually all patients develop colonic carcinoma at a young age. Early detection, while essential, can be difficult because of attenuated phenotypes or spontaneous mutations. We present the clinicopathologic features of 11 identical fibromatous lesions that we have termed Gardner-associated fibroma (GAF), which not only appear to be a part of the spectrum of lesions associated with GS but, in some cases, represent the sentinel event leading to its detection. The GAFs occurred in 11 patients (5 boys and 6 girls; age range, 3 months-14 years), were solitary (n = 7) or multiple (n = 4), and occurred in the superficial and deep soft tissues of the paraspinal region (n = 7), back (n = 3), face (n = 2), scalp (n = 2), chest wall (n = 2), thigh (n = 1), neck (n = 1), and flank (n = 1). Histologically, GAFs resemble nuchal-type fibromas (NFs), consisting of thick, haphazardly arranged collagen bundles between which are found occasional bland fibroblasts, and having margins that frequently engulf surrounding structures including adjacent fat, muscle and nerves. After surgical excision, four patients developed recurrences that were classic desmoid fibromatoses (DFs). In one patient with multiple GAFs, one lesion had the features of GAF and DF in the absence of surgical trauma. A family history of GS or polyposis (n = 6) or DF (n = 1) was known at the time of surgery in seven patients. In three patients, the diagnosis of GAF resulted in the diagnosis of unsuspected APC in older family members, with the detection of an occult colonic adenocarcinoma in one parent. In the family of the remaining patient, no stigmata of GS were present. Genetic analysis of this child was performed to investigate the presence of a spontaneous (new) mutation; however, no abnormalities were detected. The significance of GAF is that it serves as a sentinel event for identifying GS kindreds, including those with a high risk for the development of DF, and it may potentially identify children with spontaneous mutations of the APC gene. Because NFs and GAFs resemble one another, we suggest that a subset of NF occurring in multiple sites, unusual locations, or children may be GAF.
Adenomatous Polyposis Coli↗
Gardner syndrome and periampullary malignancy.
In a family with colonic polyposis and the typical associated findings of Gardner syndrome (osteomas and soft-tissue tumors), two and possibly four of the affected members developed periampullary malignancy. A review indicates that individuals with Gardner syndrome may have a 100- to 200-fold increased risk of developing periampullary carcinoma when compared to the general population. While certain families and certain individuals (those with other duodenal involvement, males and those with all of the characteristics of Gardner syndrome expressed) may be most susceptible, all patients with Gardner syndrome should be periodically endoscopically evaluated for the presence of upper gastrointestinal tract disease.
Adolescent↗
Desmoid tumors in Gardner syndrome: use of computed tomography.
Desmoid tumors are known to be associated with Gardner syndrome and, when located in the mesentery, can contribute to morbidity and mortality. Computed tomography (CT) was used to evaluate six patients with Gardner syndrome who, after colectomy, complained either of abdominal pain or of palpable masses. In five patients, desmoids of the mesentery, abdominal wall, and paraspinous muscles were diagnosed; four of these were later proven surgically. The sixth case, with both CT and subsequent surgery negative for desmoid lesions, is included to illustrate the ability of CT to replace exploratory surgery in certain instances. CT provides a relatively noninvasive means of assessing and following patients with Gardner syndrome after colectomy and delaying or preventing further surgery or, if necessary, providing a surgical "road map" to optimize unavoidable procedures.
Adult↗