Juvenile polyposis located solely on prolapsed rectal mucosa is very unusual. We report the case of a 17-year old boy who presented to us with a history of passage of blood and mucus per rectum of a mass protruding through the anus during defecation. Per rectal and colonoscopic examinations revealed numerous polyps located solely on the prolapsed rectal mucosa. Histopathology was consistent with juvenile polyposis. He was managed with repeated sessions of endoscopic polypectomy. Family screening was negative for colonic polyps.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Lung transplantation for diffuse pulmonary arteriovenous malformations associated with juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome: a case report.
Gen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.
Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.
Prevalence and Incidence of Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022.
J Gastroenterol Hepatol
December 2024
Division of Gastroenterology, Department of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Article Synopsis
- Peutz-Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS) are hereditary conditions linked to a high risk of cancer, but their prevalence and incidence in Japan were previously unknown.
- A nationwide survey in 2022 revealed that there are an estimated 701 patients with PJS and 188 with JPS in Japan, with low prevalence and incidence rates highlighted.
- Results also showed a higher male representation in both conditions and indicated a need for further research on clinical details and outcomes associated with these syndromes.
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.
Fam Cancer
November 2024
A.R.G. (Argentine Rendu Study Group), Ciudad Autónoma de Buenos Aires, Argentina.
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family history of JPS.
View Article and Find Full Text PDFPediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.
Clin Cancer Res
October 2024
Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas.
Article Synopsis
- Pediatric patients with gastrointestinal (GI) polyposis and cancer often have hereditary cancer risk syndromes that necessitate ongoing cancer screening.
- Recognizing at-risk individuals through family history and clinical features aids in effective cancer risk assessment and management from childhood onward.
- The 2024 updates to hereditary GI cancer screening guidelines emphasize collaboration between pediatric and adult gastroenterology to enhance management practices, focusing on conditions like familial adenomatous polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!