Juvenile polyposis syndrome

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Juvenile polyposis syndrome

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Juvenile polyposis are a type of polyp and can present in both children and adults [3]. The polyps are a growth that projects into the lumen like a mushroom, arising from the tissue underneath the epithelium layer (colonocytes).

The polyps can be solitary or multiple. There is no set number of polyps that yield a diagnosis. Some experts suggest 5 juvenile polyps, others say 10 or more or even 1 plus a family history.

Presentation

They normally present at a young age with painful rectal bleeding which can be pretty concerning for the patient and parents. They can also present as a mass which has prolapsed outside the anus.

Pathophysiology

It is not clear if this condition has a genetic predisposition or if they are just sporadic. There has been some association with familial juvenile polyposis and the gene SMAD4 on chromosome 18 and PTEN on chromosome 10

Prognosis

solitary polyps has no significant risk of cancer. But multiple polyps, polyposis syndrome, of the colon carry a 10% risk of developing into a cancer. This is mainly because of juvenile polyps developing adenomatous tissue.

Monitoring

If the patient has juvenile polyps they require yearly upper and lower endoscopies with the intention of excision and cytology.

Treatment

If you fear adenomatous tissue developing than you can offer surgery, namely colectomy and ileorectal anastomosis.

Screening

The siblings of patients with juvenile polyps can be screened, starting in their teens

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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