Peutz–Jeghers syndrome – Be in need of vigilance: A case report
Peutz–Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Journal of Family Medicine and Primary Care |
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| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_958_24 |
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| author | Vandana S. Tomey Sudhir Tomey Kewal Dhone Tanmay Tapase |
| author_facet | Vandana S. Tomey Sudhir Tomey Kewal Dhone Tanmay Tapase |
| author_sort | Vandana S. Tomey |
| collection | DOAJ |
| description | Peutz–Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene. We describe the case of a 14-year-old male who presented to us with recurrent abdominal pain, vomiting and weight loss associated with growth failure. Classic melanin spots were present on lips and buccal mucosa. Diagnosis of PJS was established via clinical history, examination, CT scan, and endoscopy revealing the need for laparotomy for bowel obstruction secondary to chronic intermittent intussusception, enterotomy for small polyps. Polyp histopathology was consistent with hamartomatous polyps of PJS. |
| format | Article |
| id | doaj-art-65f803b82d0744f5bcf4b65684285a8a |
| institution | Kabale University |
| issn | 2249-4863 2278-7135 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj-art-65f803b82d0744f5bcf4b65684285a8a2025-01-11T10:14:14ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632278-71352024-12-0113125927593010.4103/jfmpc.jfmpc_958_24Peutz–Jeghers syndrome – Be in need of vigilance: A case reportVandana S. TomeySudhir TomeyKewal DhoneTanmay TapasePeutz–Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene. We describe the case of a 14-year-old male who presented to us with recurrent abdominal pain, vomiting and weight loss associated with growth failure. Classic melanin spots were present on lips and buccal mucosa. Diagnosis of PJS was established via clinical history, examination, CT scan, and endoscopy revealing the need for laparotomy for bowel obstruction secondary to chronic intermittent intussusception, enterotomy for small polyps. Polyp histopathology was consistent with hamartomatous polyps of PJS.https://journals.lww.com/10.4103/jfmpc.jfmpc_958_24enterotomyhamartomatous polypsintussusceptionmucocutaneous pigmentationmucosal polypspeutz–jeghar syndrome |
| spellingShingle | Vandana S. Tomey Sudhir Tomey Kewal Dhone Tanmay Tapase Peutz–Jeghers syndrome – Be in need of vigilance: A case report Journal of Family Medicine and Primary Care enterotomy hamartomatous polyps intussusception mucocutaneous pigmentation mucosal polyps peutz–jeghar syndrome |
| title | Peutz–Jeghers syndrome – Be in need of vigilance: A case report |
| title_full | Peutz–Jeghers syndrome – Be in need of vigilance: A case report |
| title_fullStr | Peutz–Jeghers syndrome – Be in need of vigilance: A case report |
| title_full_unstemmed | Peutz–Jeghers syndrome – Be in need of vigilance: A case report |
| title_short | Peutz–Jeghers syndrome – Be in need of vigilance: A case report |
| title_sort | peutz jeghers syndrome be in need of vigilance a case report |
| topic | enterotomy hamartomatous polyps intussusception mucocutaneous pigmentation mucosal polyps peutz–jeghar syndrome |
| url | https://journals.lww.com/10.4103/jfmpc.jfmpc_958_24 |
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