Polyposis coli, craniofacial exostosis and astrocytoma: The concomitant occurrence of the Gardner's and Turcot syndromes

Koot, Radboud W.; Hulsebos, Theo J.M.; Overbeeke, J.J. van

doi:10.1016/0090-3019(95)00380-0

Cited by 9 publications

(4 citation statements)

References 17 publications

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“…Das Gardner-Syndrom -benannt nach dem amerikanischen Humangenetiker Eldon John Gardner (1909-1989) -stellt mit 60% die größte Untergruppe der FAP (familiären adenomatösen Polyposis) dar [39]. Die Inzidenz der Erkrankung liegt bei etwa 1:10.000, der Erbgang ist autosomal-dominant.…”

Section: Gardner-syndromunclassified

Skin and teeth

Heinlin

Heinlin²,

Steinbauer

et al. 2009

Hautarzt

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Skin and teeth not only share several characteristics in their development but also have a similar ontogenetic origin from the ectoderm. Thus, numerous congenital diseases, such as genetic, infectious, inflammatory, and immune disorders affect both skin and teeth. Particularly skin diseases are often identified by the synopsis of systemic symptoms. The understanding and appreciation of dental abnormalities guides dermatologists in the diagnosis and identification of syndromes as well as in finding an optimal therapy.

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Section: Gardner-syndromunclassified

Skin and teeth

Heinlin

Heinlin²,

Steinbauer

et al. 2009

Hautarzt

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“…3 A patient with "adenomatous polyposis" and a colonic adenocarcinoma who also had a craniopharyngioma, but whose sibship was free of colorectal polyps, has been reported; and a patient with a craniopharyngioma is listed in a cohort of patients with familial polyposis coli. 7…”

Section: Inherited Colorectal Neoplasias and Primary Malignant Brain mentioning

confidence: 99%

“…11 Other common extracolonic manifestations of Gardner's syndrome include osteomas of the long bones; cutaneous epidermoid cysts, fibromas, leiomyomas, and lipomas; mesenteric desmoid tumors; peri-ampulary and duodenal carcinomas, hepatoblastomas, benign and malignant biliary and adrenal neoplasms; papillary carcinoma of the thyroid; and dental anomalies such as supernumerary teeth, odontomas, and a propensity for dental caries. 7…”

Section: Familial Adenomatous Polyposis and Gardner 'S Syndromementioning

confidence: 99%

“…20 Although intracranial epidermoid cysts have not previously been described in Gardner's syndrome, subcutaneous epidermoid cysts are common in this condition. 7 Subcutaneous and intracranial epidermoid cysts have identical histological features and it is tempting to postulate a common genetic origin for them in the setting of Gardner's syndrome.…”

Section: Epidermoid Cystsmentioning

confidence: 99%

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Familial Adenomatous Polyposis and Benign Intracranial Tumors: A New Variant of Gardner's Syndrome

Leblanc

2000

Can. J. Neurol. Sci

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Introduction:Familial adenomatous polyposis (FAP) is associated with malignant tumors of the central nervous system, predominantly medulloblastomas and glioblastoma multiforme (Turcot's syndrome) and with craniofacial osteomas (Gardner's syndrome). This report details the occurrence of benign, intracranial tumors in two related individuals with Gardner's syndrome, an asso ciation not previously described.Patients and Methods:A 57-year-old woman (the propositus), her sister, two of her nieces and one of her grandnephews were previously diagnosed with Gardner's syndrome. The propositus came to neurosurgical attention because of vertigo associated with what proved to be an epidermoid cyst of the cerebellopontine angle. Her unaffected children and her relatives with Gardner's syndrome were examined and underwent computed tomography or magnetic resonance imaging.Results:A 39-year-old woman with Gardner's syndrome, the niece of the propositus, was found to harbor an asymptomatic left frontal meningioma.Discussion:Familial adenomatous polyposis, Gardner's syndrome, and that variant of Turcot's syndrome in which medulloblastoma predominate, are associated with a mutation of the adenomatous polyposis coli gene. The demonstration that patients with Gardner's syndrome can also have benign, nonneuroglial, intracranial tumors adds to the previously known extracolonic lesions associated with FAP. The molecular characterization of our patients should reveal if benign intracranial tumors represent a pleiotropic manifestation of the adenomatous polyposis coli gene mutation or if other genes are implicated.

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