Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred

2012 ◽  
Vol 24 (8) ◽  
pp. 988-994 ◽  
Author(s):  
Verena Schwetz ◽  
Sabine Uhrig ◽  
Ekkehard Spuller ◽  
Andrea Deutschmann ◽  
Christoph Högenauer
Keyword(s):  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Mutation Carriers ◽  
Smad4 Mutation

Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl

2020 ◽  
Vol 13 (6) ◽  
pp. 1096-1101
Author(s):  
Yusuke Hashimoto ◽  
Koji Yokoyama ◽  
Hideki Kumagai ◽  
Yuko Okada ◽  
Takanori Yamagata
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Smad4 Mutation

SMAD4 Mutation and Combined Juvenile Polyposis Syndrome/Hereditary Hemorrhagic Telangiectasia

2018 ◽  
Vol 113 (Supplement) ◽  
pp. S850
Author(s):  
Jack Scolaro ◽  
Deena Kapadia ◽  
Houssam Kharrat ◽  
Vani Thirumala ◽  
Seshadri Thirumala
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Smad4 Mutation

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
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