Gardner Syndrome
Classification according to ICD-10 | |
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D12.6 | Colon, unspecified |
ICD-10 online (WHO version 2019) |
The Gardner's syndrome , named after the American geneticist Eldon John Gardner (* 1909 in Utah , † 1989 ), is a rare genetic cancer syndrome , a mutation of the adenomatous polyposis coli protein is based. It occurs in around 1 in 10,000 newborns and is inherited as an autosomal dominant trait.
The syndrome is described as a phenotypic variant of familial adenomatous polyposis ( FAP ) (i.e., there is a smooth transition). In addition to the adenomas of the large intestine , benign tumors of the bones (e.g. osteomas ), the skin , subcutaneous tissue and connective tissue (e.g. atheromas , lipomas , fibromas , leiomyomas ) occur. Other features associated with Gardner syndrome are hyperdontia (excessive number of teeth), colon and stomach polyps, and epidermoid cysts .
therapy
Since Gardner syndrome, like familial adenomatous polyposis, is an obligatory precancerous condition (100% probability of developing colon cancer ), treatment is an early total colectomy .
literature
- EJ Gardner: A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. In: Am J Hum Genet. 1951; 3, pp. 167-176. PMID 14902760
- C. Fotiadis, DK Tsekouras, P. Antonakis, J. Sfiniadakis, M. Genetzakis, GC Zografos: Gardner's syndrome: a case report and review of the literature. In: World J Gastroenterol. 2005 Sep 14; 11 (34), pp. 5408-5411. Review. PMID 16149159