Difference between revisions of "Juvenile polyposis syndrome"
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Revision as of 02:41, 27 September 2011
Juvenile polyposis syndrome, abbreviated JPS, is an autosomal dominant inherited condition due to a mutation in SMAD4[1] or BMPR1A.[2]
General
It is characterized by (hamartomatous) juvenile polyps.
Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get colorectal carcinoma.[3]
Note:
- SMAD4 is also associated with hereditary hemorrhagic telangiectasia syndrome.[1]
Criteria for Dx of JPS
One of the following:[3]
- Five juvenile polyps in the colorectum.
- "Multiple" juvenile polyps through-out GI tract.
- Juvenile polyp + family history of JPS.
Note:
- "Multiple" is not defined.