Familial Polyposis syndrome

2020 ◽  
Author(s):  
Roshni A. ◽  
Anjum Syed ◽  
Pankaj Sharma
Keyword(s):  
Familial Polyposis ◽  
Polyposis Syndrome

Serrated polyposis syndrome and the role of serrated polyps in colorectal cancer development

2012 ◽  
Vol 1 (1) ◽  
pp. 37-47
Author(s):  
Karam Singh Boparai ◽  
Yark Hazewinkel ◽  
Evelien Dekker
Keyword(s):  
Colorectal Cancer ◽  
Cancer Development ◽  
Polyposis Syndrome ◽  
Serrated Polyps

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.

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