Juvenile polyposis syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Juvenile polyposis (JPS) are a type of polyp and can present in both children and adults [2]. 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

Differential diagnosis

JPS must be differentiated from other diseases causing multiple polyps such as:

Diseases	History and Symptoms			Physical Examination			Laboratory Findings			Other Findings
Diseases	Abdominal Pain	Rectal Bleeding	Fatigue	Abdominal Tenderness	Hyperpigmentation	Anemia	Gene(s)	Gastrointestinal Tumors	Cancers	Other Findings
Juvenile Polyposis Syndrome	+		+	–	–	–	SMAD4 BMPR1A	Adenoma+ Hamartoma+++	Colon
Familial Adenomatous Polyposis	+	+	+	+/–	–	+	APC gene MUTYH gene	Adenoma+++	Colon Brain Thyroid	Desmoid tumor Osteoma
Peutz–Jeghers syndrome	+	+	+	+	+	+	STK11 (LBK1) gene	Adenoma+ Hamartoma+++	Breast Lung Pancreas Ovaries Sertoli cells Uterine
Cowden Syndrome	–	–	–	–	Axillary+ Inguinal+ Facial+	–	PTEN	Adenoma+ Hamartoma+++	Breast Thyroid Endometrium	Trichilemmoma Skin hamartoma Hyperplastic polyp Macrocephaly Breast fibrosis
Carney Syndrome	–	–	–	–	Facial+ Mucosal+	–	PRKAR1A		Thyroid Sertoli Cell	Myxoma of skin Myxoma of heart
Hereditary Non–Polyposis Colon Cancer	–	+	+	+/–	–	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrium Stomach Kidneys Ureter Ovaries	Sebaceous adenoma

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

External links

http://www.peutz-jeghers.com/jp/default.htm

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