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juvenile polyposis coli

Epidemiology: - prevalence: 1 in 100,000 [2] Pathology: - gastrointestinal hamartomatous polyposis syndrome - smooth histological appearance of lesions - predominant stroma - cystic spaces - lack of a smooth muscle core - polyps tend to occur in the colon Genetics: - autosomal dominant - associated with defects in MMAC1, BMPR1A, SMAD4 Clinical manifestations: - rectal bleeding - abdominal pain - diarrhea - rectal prolapse - intussusception Laboratory: - complete blood count: may show anemia - serum albumin: may show hypoalbuminemia - serum potassium: may show hypokalemia Complications: - increase risk for developing gastrointestinal cancers

Related

chromosome 10q23 deletion syndrome

Specific

Cronkhite-Canada syndrome juvenile polyposis with hereditary hemorrhagic telangiectasia (JPHT)

General

hamartomatous polyposis syndrome; familial hamartomatous polyposis

Properties

ASSOCIATED-NEOPLASM[S]: polyp :SITE gastrointestinal system adenocarcinoma of the colon

Database Correlations

OMIM 174900

References

  1. OMIM :accession 174900
  2. Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018.