Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps [PDF]
BMC CancerBackground Pathogenic variants of the bone morphogenetic protein receptor type 1 A (BMPR1A) gene underlie juvenile polyposis syndrome (JPS), a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps.
Taina T. Nieminen +9 more
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Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder—A Case Report [PDF]
ReportsBackground and Clinical significance: Cowden syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in the PTEN tumor suppressor gene.
Maria Rogalidou +7 more
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A Rare Case of Solitary Peutz Jeghers Type Hamartomatous Duodenal Polyp with Dysplasia! [PDF]
Journal of Clinical and Diagnostic Research, 2016 Solitary Peutz Jeghers (SPJ) type hamartomatous polyp is a rare and separate entity from classic Peutz Jeghers syndrome (PJS). A hamartomatous polyp without associated mucocutaneous pigmentations, any other gastrointestinal polyp or a family history of ...
Chetan Devendra Rathi +4 more
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Peutz–Jeghers syndrome: An unusual cause of iron-deficiency anemia
Iraqi Journal of Hematology, 2019 Peutz–Jeghers syndrome (PJS) is a rare disorder, which is inherited as autosomal dominant. It is characterized by mucocutaneous melanotic spots and multiple hamartomatous polyps with an increased risk of cancer predispositions.
Pakesh Baishya +5 more
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Endoscopic Findings of Oozing Gastric Hamartomatous Polyps: A Rare Cause of Upper Gastrointestinal Bleeding [PDF]
Journal of Clinical and Diagnostic ResearchGastric hamartomatous polyps are infrequent benign lesions of the stomach, typically discovered incidentally during endoscopy. Upper gastrointestinal bleeding (UGIB) is a commonly encountered medical emergency, often caused by peptic ulcers, esophageal ...
Kamlesh Taori +4 more
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Combination of Peutz-Jeghers syndrome and platelet storage pool deficiency: A case report [PDF]
Medicinski Podmladak, 2014 Conclusion: This case illustrates the importance of taking into account the possibility for coexistence of Peutz-Jeghers syndrome (PJS) and platelet storage pool deficiency (PSPD) because this combination can lead to serious risks for the patient ...
Nakov Radislav +3 more
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Hamartomatous Polyps of the Colon: Ganglioneuromatous, Stromal, and Lipomatous [PDF]
Archives of Pathology & Laboratory Medicine, 2006 Abstract Intestinal ganglioneuromas comprise benign, hamartomatous polyps characterized by an overgrowth of nerve ganglion cells, nerve fibers, and supporting cells in the gastrointestinal tract. This polyposis has been divided into 3 subgroups, each with a different degree of ganglioneuroma formation: polypoid ganglioneuroma ...
Chan, Owen T M, Haghighi, Parviz
openaire +3 more sources
The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report
Acta Marisiensis - Seria Medica, 2023 Introduction: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked to the mutation of the STK11 gene.
Balosin Marina-Georgia
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A Case of Juvenile Polyposis Syndrome in a 13-year-old: A Case Report
Journal of Nepal Medical Association, 2023 Juvenile polyposis syndrome is an autosomal dominant syndrome characterised by hamartomatous polyps in the gastrointestinal tract and has a high risk for colon carcinoma.
Abashesh Bhandari +3 more
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Peutz-Jeghers syndrome: an unusual cause of recurrent intussusception in a 7-year-old boy
The Turkish Journal of Pediatrics, 2016 Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous pigmentations.
Sinan Kılıç +2 more
doaj +1 more source