Gardner's syndrome

Gardner's syndrome
Other namesFamilial colorectal polyposis,
Familial polyposis of the colon
SpecialtyGastroenterology, oncology, medical genetics Edit this on Wikidata

Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon,[1] or familial colorectal polyposis[2]) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon.[3] The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas,[4] as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.

Desmoid tumors are fibrous tumors that usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery, and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to Gardner syndrome commonly appear in the thyroid, liver and kidneys. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon.

The syndrome was first described in 1951.[5] There is no cure at this time, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.[6]

  1. ^ Dermatology. Bolognia, Jean,, Schaffer, Julie V.,, Cerroni, Lorenzo (Fourth ed.). [Philadelphia, Pa.] 22 October 2017. p. 1031. ISBN 978-0-7020-6342-8. OCLC 1011508489.{{cite book}}: CS1 maint: location missing publisher (link) CS1 maint: others (link)
  2. ^ Dermatology. Bolognia, Jean,, Schaffer, Julie V.,, Cerroni, Lorenzo (Fourth ed.). [Philadelphia, Pa.] 22 October 2017. p. 1223. ISBN 978-0-7020-6342-8. OCLC 1011508489.{{cite book}}: CS1 maint: location missing publisher (link) CS1 maint: others (link)
  3. ^ Online Mendelian Inheritance in Man (OMIM): 175100
  4. ^ Luba MC, Bangs SA, Mohler AM, Stulberg DL (February 2003). "Common benign skin tumors". Am Fam Physician. 67 (4): 729–38. PMID 12613727. Archived from the original on 2008-05-16. Retrieved 2009-08-23.
  5. ^ Cite error: The named reference pmid22370045 was invoked but never defined (see the help page).
  6. ^ "Gardner syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 April 2018.