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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|[[Juvenile polyposis]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|[[Juvenile polyposis]]
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* Familial inheritance, autosomal dominant, high risk of GI and non GI cancer, and it is also a germline mutation.
* Familial inheritance, autosomal dominant, high risk of GI and non GI cancer, also a germline mutation.
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*Gastrointestinal hamartomatous polyps, on physical exam  lip pigmentation is common.  
*Gastrointestinal hamartomatous polyps, on physical exam  lip pigmentation is common.  

Revision as of 21:28, 4 December 2015

Differential Diagnosis Similar Features Differentiating Features
Familial adenomatous polyposis (FAP)
  • Familial inheritance, increased risk of colorectal cancer, extra-colonic tumors.
  • Autosomal recessive, 100+ polyps and age under 40, centinel tumors are differently located than HNPCC, such as: Osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE)
Juvenile polyposis
  • Familial inheritance, autosomal dominant, high risk of GI and non GI cancer, also a germline mutation.
  • Gastrointestinal hamartomatous polyps, on physical exam lip pigmentation is common.
Cowden syndrome
  • Rare autosomal dominant inherited disorder, increased risk of colorectal cancer, also has gene mutations.
  • Intestinal hamartomatous polyps, physical exam may show macrocephaly, gene affected PTEN.