juvenile polyposis coli

Epidemiology

• prevalence: 1 in 100,000

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

More general terms

• hamartomatous polyposis syndrome

More specific terms

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

Additional terms

• chromosome 10q23 deletion syndrome

Patient information

juvenile polyposis coli patient information

Database

• OMIM: https://mirror.omim.org/entry/174900