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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Main Authors: Kaka Renaldi, Yudha Friatna
Format: Article
Language:English
Published: Interna Publishing 2024-12-01
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.
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publishDate 2024-12-01
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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