A Case of Juvenile Polyposis Syndrome: Dilemmas in Differential Diagnosis and Management

2011 ◽  
Vol 77 (12) ◽  
pp. 301-303
Author(s):  
Aikaterini Mastoraki ◽  
Ioannis S. Papanikolaou ◽  
Konstantinos Triantafyllou ◽  
Evanthia Karamitopoulou ◽  
George Sakorafas ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Diagnosis And Management

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

2001 ◽  
Vol 69 (4) ◽  
pp. 704-711 ◽  
Author(s):  
Xiao-Ping Zhou ◽  
Kelly Woodford-Richens ◽  
Rainer Lehtonen ◽  
Keisuke Kurose ◽  
Micheala Aldred ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Juvenile polyposis syndrome

2008 ◽  
Vol 13 (4) ◽  
pp. 128 ◽  
Author(s):  
VijaiD Upadhyaya ◽  
AN Gangopadhyaya ◽  
SP Sharma ◽  
SC Gopal ◽  
DK Gupta ◽  
...  
Keyword(s):  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals 1669 Cancer Within the Family Tree: The Risks, Diagnosis, and Treatment of Juvenile Polyposis Syndrome

2019 ◽  
Vol 114 (1) ◽  
pp. S933-S934
Author(s):  
Kyler Kozacek ◽  
Michael Abdo ◽  
Caleb Hudspath ◽  
Tudor Oroian ◽  
Pedro Manibusan ◽  
...  
Keyword(s):  
Juvenile Polyposis ◽  
Diagnosis And Treatment ◽  
Family Tree ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
The Family

Hereditary Colorectal Cancer and Polyposis Syndromes

2021 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Juvenile Polyposis ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Peutz Jeghers Syndrome

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

scholarly journals Colonic Polyps in Children and Adolescents

2007 ◽  
Vol 21 (4) ◽  
pp. 233-239 ◽  
Author(s):  
Carol A Durno
Keyword(s):  
Age Of Onset ◽  
Management Strategies ◽  
Significant Risk ◽  
Colonic Polyps ◽  
Adenomatous Polyposis Coli Gene ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Juvenile Polyps ◽  
Biallelic Mutations

Colonic polyps most commonly present with rectal bleeding in children. The isolated juvenile polyp is the most frequent kind of polyp identified in children. ‘Juvenile’ refers to the histological type of polyp and not the age of onset of the polyp. Adolescents and adults with multiple juvenile polyps are at a significant risk of intestinal cancer. The challenge for adult and pediatric gastroenterologists is determining the precise risk of colorectal cancer in patients with juvenile polyposis syndrome. Attenuated familial adenamatous polyposis (AFAP) can occur either by a mutation at the extreme ends of the adenomatous polyposis coli gene or by biallelic mutations in themutY homologue (MYH)gene. The identification ofMYH-associated polyposis as an autosomal recessive condition has important implications for screening and management strategies. Adult and pediatric gastroenterologists need to be aware of the underlying inheritance patterns of polyposis syndromes so that patients and their families can be adequately evaluated and managed. Colonic polyps, including isolated juvenile polyps, juvenile polyposis syndrome, FAP, AFAP andMYH-associated polyposis, are discussed in the present review.

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