The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report
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. Patients are at a lifetime risk of gastrointestinal and non-gastroin...
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| Format: | Article |
| Language: | English |
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Sciendo
2023-06-01
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| Series: | Acta Marisiensis - Seria Medica |
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| Online Access: | https://doi.org/10.2478/amma-2023-0017 |
| _version_ | 1797788945954635776 |
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| author | Balosin Marina-Georgia |
| author_facet | Balosin Marina-Georgia |
| author_sort | Balosin Marina-Georgia |
| collection | DOAJ |
| description | 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. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers. |
| first_indexed | 2024-03-13T01:43:45Z |
| format | Article |
| id | doaj.art-6cef1606c5804f3fb18239b0840c5055 |
| institution | Directory Open Access Journal |
| issn | 2668-7763 |
| language | English |
| last_indexed | 2024-03-13T01:43:45Z |
| publishDate | 2023-06-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Acta Marisiensis - Seria Medica |
| spelling | doaj.art-6cef1606c5804f3fb18239b0840c50552023-07-03T10:20:59ZengSciendoActa Marisiensis - Seria Medica2668-77632023-06-0169213513710.2478/amma-2023-0017The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case reportBalosin Marina-Georgia013rd Department of Gastroenterology, “Iuliu Hațieganu” University of Medicine and Pharmacy, Cluj-Napoca, RomaniaIntroduction: 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. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.https://doi.org/10.2478/amma-2023-0017hamartomatous polypsanemiaintussusceptionscreeningfamily history |
| spellingShingle | Balosin Marina-Georgia The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report Acta Marisiensis - Seria Medica hamartomatous polyps anemia intussusception screening family history |
| title | The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report |
| title_full | The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report |
| title_fullStr | The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report |
| title_full_unstemmed | The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report |
| title_short | The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report |
| title_sort | importance of early diagnosis and surveillance in peutz jeghers syndrome a case report |
| topic | hamartomatous polyps anemia intussusception screening family history |
| url | https://doi.org/10.2478/amma-2023-0017 |
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