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Juvenile Polyp

Polyps Juvenile


Presentation

  • We present a case of an adult patient who presented with a very high FCP level, which subsequently normalised following removal of a solitary colonic juvenile polyp. There was no evidence of IBD.[ncbi.nlm.nih.gov]
  • Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present.[en.wikipedia.org]
  • […] in about 20% of JPS patients Exon 9 deletion is most common abnormality Patients with SMAD4 germline mutations more likely to have Polyps in upper gastrointestinal tract Positive family history Germline mutations in BMPR1A gene on 10q23 present in similar[basicmedicalkey.com]
Familial Adenomatous Polyposis
  • adenomatous polyposis syndrome Promoted articles (advertising)[radiopaedia.org]
  • Differential diagnosis The differential diagnosis should include other syndromes associated with polyposis including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, familial adenomatous polyposis and Peutz-Jeghers syndrome (see these terms).[orpha.net]
  • Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet . 1987 Oct. 28(2):385-92. [Medline] . Bell B, Mazzaferri EL. Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma.[emedicine.medscape.com]
  • Colonic polyps, including isolated juvenile polyps, juvenile polyposis syndrome (JPS), familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP) and mut Y homologue ( MYH) -associated polyposis (MAP), are discussed in the[ncbi.nlm.nih.gov]
Abdominal Pain
  • Ultrasound examination is necessary for children who pass dark red bloody stools either with or without abdominal pain. In addition, mechanical bowel preparation before ultrasonic testing is helpful to enable the detection of intraluminal lesions.[ncbi.nlm.nih.gov]
  • Discussion Abdominal pain is a common complaint of children seeking medical care in the pediatric ED. Acute abdominal pain in children 3 to 15 years old includes a wide range of diagnoses.[go.galegroup.com]
  • Some of the problems derived from the polyps, such as bleeding, abdominal pain, diarrhea or anemia.[amplexa.com]
Blood in Stool
  • The presence of blood in stool does not mean that an individual has cancer; blood in stool, can occur due to non-cancerous causes as well Double contrast barium enema to determine the presence of masses Genetic testing to check for the gene mutation individuals[dovemed.com]
  • Blood in stools before and after polyp removel, Avms of the deodenel loop, inside hems, and 3cin tubuo adenoma Hi, On Nov of 06 I had a colonoscopy done and they didnt find any thing that could be mking me bleed and go to the rest room often.[medical-dictionary.thefreedictionary.com]
Piebaldism
  • Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism[en.wikipedia.org]

Workup

  • She was admitted for further workup. Laboratory test results showed microcytic anemia (hemoglobin, 7.2 g/dL; mean corpuscular volume, 55 µm 3 ), thrombocytosis (platelet count, 539 10 3 /µL) and a low reticulocyte count (1.3% of red blood cells).[consultant360.com]
  • Plain radiograph Plain radiographs no longer play a role in the workup of a suspected juvenile nasopharyngeal angiofibroma, however they may still be obtained in some instances during the assessment of nasal obstruction, or symptoms of sinus obstructions[radiopaedia.org]
  • Colonoscopic workup of the father also revealed normal colonic mucosa. The father has three adult daughters from a previous marriage who by history have not had hematochezia or malignancies and do not carry the diagnosis of JPS.[cancerres.aacrjournals.org]
Polyps
  • RESULTS: Fifteen patients had a solitary polyp, two had 2 to 9 polyps, and four had polyposis with 10 or more polyps. Most polyps exhibited inflammatory or regenerative atypia.[ncbi.nlm.nih.gov]
  • COX-2 expression is higher in JPS polyps than in sporadic juvenile polyps and correlates with polyp size and dysplasia[ 46 ].[doi.org]

Treatment

  • The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up. Known SMAD4 or BMPR1A mutation carrier.[eviq.org.au]
  • Management and treatment Management should involve routine colonoscopy and if the number of polyps remains low endoscopic polypectomy is the gold standard for treatment.[orpha.net]
  • Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals.[ncbi.nlm.nih.gov]
  • Their siblings may also need to be screened regularly. [ citation needed ] Treatment [ edit ] Malignant transformation of polyps requires surgical colectomy. Prognosis [ edit ] Most juvenile polyps are benign, however, malignancy can occur.[en.wikipedia.org]
  • The treatments methods for Juvenile Polyposis Syndrome are geared toward relief from symptoms and reducing complications, since JPS is a genetic disorder and is incurable.[dovemed.com]

Prognosis

  • Prognosis The prognosis of JIP is based on the risk of developing GI or pancreatic cancer after 20 years of age. The cumulative risk for developing cancer in patients with JIP is 20% at the age of 35 years and 68% after the age of 60 years.[orpha.net]
  • Associations Other congenital abnormalities are present in 20% of patients 1,2 : intestinal malrotation Meckel diverticulum hydrocephalus congenital heart disease mesenteric lymphangioma pulmonary arteriovenous malformation Treatment and prognosis These[radiopaedia.org]
  • What is the Prognosis of Juvenile Polyposis Syndrome? (Outcomes/Resolutions) The prognosis of Juvenile Polyposis Syndrome is dependent upon the age of manifestation, severity of symptoms, and stage of the cancer, if polyps turn malignant.[dovemed.com]
  • 1988;13:619 ) Associated risk of upper and or lower GI malignancies is approximately 55% ( Ann Surg Oncol 1998;5:751 ) Juvenile polyposis of infancy is a rare form that usually manifests before age 2, is not hereditable and is associated with a poor prognosis[pathologyoutlines.com]
  • Prognosis [ edit ] Most juvenile polyps are benign, however, malignancy can occur.[en.wikipedia.org]

Etiology

  • Juvenile polyposis syndrome (JPS) Definitions Hamartomatous polyp May occur sporadically May be manifestation of inherited familial polyposis syndrome Patients with JPS have increased risk of colorectal carcinoma No increase in cancer risk in sporadic JP ETIOLOGY[basicmedicalkey.com]
  • Etiology JIP is transmitted in an autosomal dominant manner and mutations in the SMAD4 (18q21.1) and BMPR1A (10q22.3) genes have been associated with the disease. However, no genetic anomalies have been identified so far in around 60% of the cases.[orpha.net]
  • Juvenile polyps most frequently are diagnosed before the age of 10 years, with the peak age of diagnosis between 2 and 5 years of age. 1 Their etiology remains unknown; one hypothesis is that these polyps are a form of allergic inflammation of the colonic[consultant360.com]
  • […] epithelial atypia develops ( Cancer 1979;43:1906 ) Second hypothesis: landscaper defect, in which an abnormal stromal environment leads to neoplastic transformation of adjacent epithelium ( Science 1998;280:1036, World J Gastroenterol 2011 ;17:4839 ) Etiology[pathologyoutlines.com]
  • […] multiple digestive juvenile polyps gastric juvenile polyps colorectal juvenile polyps Association hereditary hemorrhagic telangiectasia ( 11795766, 9892274, 8165825 ) arachnoid cyst of the posterior fossa with cerebellar tentorium dysplasia ( 12686769 ) Etiology[humpath.com]

Epidemiology

  • Summary Epidemiology Annual incidence is estimated at between 1/100,000 and 1/15,000.[orpha.net]
  • Colorectal juvenile polyps: an epidemiological and histopathological study of 144 cases in Jordanians. Dajani YF, Kamal MF.[thedoctorsdoctor.com]
  • The epidemiology of cancer of the small bowel . Cancer Epidemiol Biomarkers Prev 1998; 7 :243–251. 33. Goldfarb, NI , Pizzi, LT , Fuhr, JP , et al.[nature.com]
  • This alternative pathway is not associated with the APC gene and leads to a CpG island methylator phenotype carcinoma. [15] Epidemiology Frequency United States The frequency depends on the specific syndrome and does not vary drastically between the United[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Juvenile polyposis syndrome: 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis Sites More common on left side of colon Pathophysiology[pathologyoutlines.com]
  • Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management . 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 126.[medlineplus.gov]
  • Although its inheritance is unclear, hereditary and sporadic cases have been described in the literature. [15] Pathophysiology With the exception of Cronkhite-Canada Syndrome, all of the intestinal polyposis syndromes have been associated with genetic[emedicine.medscape.com]

Prevention

  • Transection was necessary to prevent bleeding and anemia.[ncbi.nlm.nih.gov]
  • At the present time, there are no methods or guidelines for the prevention of Juvenile Polyposis syndrome, since it is a genetic disorder Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of[dovemed.com]
  • All first-degree relatives should be examined since early diagnosis and appropriate treatment may prevent the development of cancer. If you would like to know more about Juvenile Polyposis, please contact us.[zanecohencentre.com]
  • We were able to identify potential family members on whom preventive care and treatment could be focused and simultaneously prevented unnecessary clinical and invasive procedures on those who were healthy.[jgo.amegroups.com]
  • Clinical management consists mainly of prevention of malignant complications. Most juvenile polyps can be removed endoscopically.[clinicaladvisor.com]

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