Sandbox: differentialdx maria

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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, and it is 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.