Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia
Background: Peutz-Jeghers Syndrome (PJS) is a rare hereditary polyposis syndrome that is autosomal dominant and has the main characteristics of hamartoma polyps, mucocutaneous pigmentation, and increased susceptibility to malignancy. Case: This case report presented a 19-year-old man referred from...
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| Language: | English |
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Interna Publishing
2024-12-01
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| Series: | The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy |
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| Online Access: | https://ina-jghe.com/index.php/jghe/article/view/925 |
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| author | Kaka Renaldi Yudha Friatna |
| author_facet | Kaka Renaldi Yudha Friatna |
| author_sort | Kaka Renaldi |
| collection | DOAJ |
| description | Background: Peutz-Jeghers Syndrome (PJS) is a rare hereditary polyposis syndrome that is autosomal dominant and has the main characteristics of hamartoma polyps, mucocutaneous pigmentation, and increased susceptibility to malignancy.
Case: This case report presented a 19-year-old man referred from a secondary hospital with complaints of diarrhea for one month before hospital administration. The symptoms happened five times a day with residue in the stool. Mucus or bleeding was not found. Around ten days prior, the polyp came out from the anus, but the patient could pull it back by himself. Diarrhea had been recurring since 2014. The patient then underwent polypectomy (while still children) and until now has undergone polypectomy 11 times. Abdominal CT scan showed multiple polyps with varying morphology in the luminal mucosa of the duodenum, jejunum, ileum, descending colon, sigmoid colon, and rectum, in accordance with the presentation of Peutz-Jeghers syndrome. The colonoscopy examination found a Peutz-Jeghers appearance after a polypectomy with a hemoclip installed. The patient was diagnosed with Peutz-Jeghers Syndrome post polypectomy. The patient received a plan for post-operative complete blood count examinations and periodic colonoscopies.
Conclusion: PJS is an important diagnosis to consider in young patient with polyposis, even without mucocutaneous pigmentation. |
| format | Article |
| id | doaj-art-0c90a5162e634d1c8300f027e13613aa |
| institution | Kabale University |
| issn | 1411-4801 2302-8181 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Interna Publishing |
| record_format | Article |
| series | The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy |
| spelling | doaj-art-0c90a5162e634d1c8300f027e13613aa2025-08-20T03:53:56ZengInterna PublishingThe Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy1411-48012302-81812024-12-0125326426810.24871/253202470-74896Peutz-Jeghers Syndrome: A Case Report and Literature Review in IndonesiaKaka Renaldi0Yudha Friatna1Division of Gastroenterology, Department of Internal Medicine, Dr. Cipto Mangunkusumo General National Hospital, JakartaDepartment of Internal Medicine, Dr. Cipto Mangunkusumo General National Hospital JakartaBackground: Peutz-Jeghers Syndrome (PJS) is a rare hereditary polyposis syndrome that is autosomal dominant and has the main characteristics of hamartoma polyps, mucocutaneous pigmentation, and increased susceptibility to malignancy. Case: This case report presented a 19-year-old man referred from a secondary hospital with complaints of diarrhea for one month before hospital administration. The symptoms happened five times a day with residue in the stool. Mucus or bleeding was not found. Around ten days prior, the polyp came out from the anus, but the patient could pull it back by himself. Diarrhea had been recurring since 2014. The patient then underwent polypectomy (while still children) and until now has undergone polypectomy 11 times. Abdominal CT scan showed multiple polyps with varying morphology in the luminal mucosa of the duodenum, jejunum, ileum, descending colon, sigmoid colon, and rectum, in accordance with the presentation of Peutz-Jeghers syndrome. The colonoscopy examination found a Peutz-Jeghers appearance after a polypectomy with a hemoclip installed. The patient was diagnosed with Peutz-Jeghers Syndrome post polypectomy. The patient received a plan for post-operative complete blood count examinations and periodic colonoscopies. Conclusion: PJS is an important diagnosis to consider in young patient with polyposis, even without mucocutaneous pigmentation.https://ina-jghe.com/index.php/jghe/article/view/925peutz-jeghers syndrome, polyposis, polypectomy |
| spellingShingle | Kaka Renaldi Yudha Friatna Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy peutz-jeghers syndrome, polyposis, polypectomy |
| title | Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia |
| title_full | Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia |
| title_fullStr | Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia |
| title_full_unstemmed | Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia |
| title_short | Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia |
| title_sort | peutz jeghers syndrome a case report and literature review in indonesia |
| topic | peutz-jeghers syndrome, polyposis, polypectomy |
| url | https://ina-jghe.com/index.php/jghe/article/view/925 |
| work_keys_str_mv | AT kakarenaldi peutzjegherssyndromeacasereportandliteraturereviewinindonesia AT yudhafriatna peutzjegherssyndromeacasereportandliteraturereviewinindonesia |