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Journal articles on the topic 'Hamartomatous Polyps'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

Hilmi, Mohammed Natiq. "The Prevalence and Histopathological Types of Colonic Polyps Removed during Colonoscopy in Tertiary Hospital Center: A four-year Retrospective Study." Iraqi Journal of Community Medicine 38, no. 2 (2025): 123–28. https://doi.org/10.4103/irjcm.irjcm_44_24.

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Abstract Background: Colonic polyps can be classified endoscopically as sessile (flat lesion) and pedunculated (a lesion with a stalk); however, the most important classification for treatment and prognosis is the histopathological one which divides polyps into adenomatous, serrated, juvenile/retention, inflammatory, mucosal, and hamartomatous polyps. Objective: The aim of this study is to detect the prevalence and types of colonic polyps removed during colonoscopic examination with their clinicopathological characteristics. Methods: A cross-sectional retrospective study was performed to analy

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Elkholy, Shimaa S., Shaymaa S. El Gammal, Marwa S. Rizk, Sally W. Elkhadry, Heba M. Abdallah, and Salma A. M. Nagi. "Clinicopathological findings in relation to beclin-1 protein expression among patients with Juvenile/Hamartomatous Polyps." Egyptian Journal of Pathology 44, no. 2 (2024): 167–74. https://doi.org/10.4103/egjp.egjp_28_24.

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Background Juvenile or hamartomatous polyps represent the most common pediatric polyps. Although neoplastic transformation in juvenile polyps is uncommon, dysplastic alterations were observed. The role of autophagy in hamartomatous lesions remains unclear. Objectives To assess the relationship between clinicopathological changes and beclin-1 protein expression among patients with juvenile/hamartomatous polyps. Patients and methods A total of 134 patients were enrolled in a case–control study: 63 cases of juvenile polyps, 59 colonic tissues as controls, and 12 colonic adenomas. All colonic tiss

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Vyas, Monika, Xiu Yang, and Xuchen Zhang. "Gastric Hamartomatous Polyps—Review and Update." Clinical Medicine Insights: Gastroenterology 9 (January 2016): CGast.S38452. http://dx.doi.org/10.4137/cgast.s38452.

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Gastric polyps are frequently encountered on endoscopic examinations. While many of these represent true epithelial lesions, some of the polyps may result from underlying stromal or lymphoid proliferations or even heterotopic tissue. Histologic examination is essential for accurate typing of the polyps to predict malignant potential and underlying possible genetic abnormalities. The focus of this review is on gastric hamartomatous polyps, which are relatively rare and diagnostically challenging. Though most of the gastric hamartomatous polyps are benign, certain types are associated with incre

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Tim, Lee Mem, Wan Zain Wan Zainira, and Othman Faeid. "Double Intussusceptions in Peutz-Jeghers Syndrome Patient: A Case Report." Ethiopian Medical Journal 62, no. 1 (2024): 69–72. http://dx.doi.org/10.4314/emj.v62i1.10.

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Background: Peutz-Jeghers Syndrome is one of the hereditary gastro-intestinal cancer syndrome with characteristic mucocutaneous pigmentation and histologically distinctive hamartomatous polyps in gastro-intestinal tract. Although it is characteristically benign hamartomatous polyp, majority of affected individuals develop symptoms starting from their second decades. We reported a known Peutz-Jeghers Syndrome case developed recurrent polyps leading to double intussusceptions required bowel resection. Multidisciplinary management and patient compliance to surveillance regime are important in man

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Chiu, Kenrry, Lik Hang Lee, and Wei Xiong. "Gastric Polyposis Syndromes." AJSP: Reviews and Reports 24, no. 4 (2019): 133–43. http://dx.doi.org/10.1097/pcr.0000000000000311.

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Abstract Most gastric polyps are fundic gland polyps and hyperplastic polyps. Adenomas, inflammatory fibroid polyps, and neuroendocrine tumors are other types of gastric polyps that occur less frequently. Rarely, a gastric polyp may be associated with a syndrome, including hereditary cancer syndromes. Some of these syndromes are also associated with an increased risk of gastric cancer. We present a case of a 50-year-old woman with known Cowden syndrome who presents with multiple gastric hamartomatous polyps. We then review the clinical, endoscopic, and pathologic features of various syndromes

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Venkatesh, Kusuma, Karishma Pillarisetty, and Sreedhara Murthy B. N. "Juvenile polyposis syndrome with extraintestinal anomalies: report of a rare case with review of literature." International Journal of Research in Medical Sciences 5, no. 2 (2017): 720. http://dx.doi.org/10.18203/2320-6012.ijrms20170183.

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Juvenile polyposis coli is a rare condition in children with neoplastic potential having an incidence of about 1 in 1,00,000 population. A minority of such patients have extraintestinal abnormalities like cardiac and pulmonary arteriovenous malformations. Juvenile polyposis is a disorder of hamartomatous polyposis syndrome having a malignant potential. The progression of hamartomatous polyp to carcinoma is still elucidated when compared to the understanding of transformation of an adenomatous polyp into a carcinoma via a gatekeeper defect. Here is the report of a rare case of Juvenile polyposi

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Athar, Z., A. Rajbhandari, P. Kansakar, Y. P. Singh, and P. Vaidya. "Peutz-Jehger’s Syndrome presenting as adult intussusception." Journal of Institute of Medicine Nepal 31, no. 1 (2009): 30–32. http://dx.doi.org/10.59779/jiomnepal.374.

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Abstract: Peutz- Jehger’s syndrome is an autosomal dominant disorder. It is the second most common hamartomatous syndrome with hamartomatous polyp of gastrointestinal tract and cutaneous melanin deposit. Majority of patients remain relatively asymptomatic. Some present with abdominal pain secondary to obstruction or impending obstruction owing to an intussuscepted polyp with GI bleeding. We report a case of 21 year male who presented with upper central abdominal pain, distension, vomiting and blood mixed stool. He also had black colored spots on perioral region and fingers. Ultrasound revealed

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8

Cone, Molly. "Hamartomatous Polyps and Associated Syndromes." Clinics in Colon and Rectal Surgery 29, no. 04 (2016): 330–35. http://dx.doi.org/10.1055/s-0036-1582441.

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AbstractHamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz–Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, co

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9

Soni, Sarita, Saurabh Sharma, K. Bhindiya, Aditya Jamwal, and Rashmi Kaul. "Histopathological Analysis of Gastrointestinal Polyps: A Yearlong Study at a Tertiary Care Center." International Journal of Medical and Biomedical Studies 8, no. 3 (2024): 132–35. http://dx.doi.org/10.32553/ijmbs.v8i3.2827.

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This retrospective study was conducted at a tertiary care institute from January to December 2023. The study aimed to evaluate the range of histological characteristics seen in gastrointestinal polyps. By employing Hematoxylin and Eosin (H&E) stained slides, a total of 62 cases were examined in order to categorise polyps according to age, gender, location, and histological type. The results indicated that adenomatous polyps were primarily located in the large intestine, while hyperplastic polyps were more prevalent in the stomach. Additional forms that were detected include hamartomatous,

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10

Chaudhary, Gyanendra, Sachin Agrawal, Situ Situ, and Ananvay Dadu. "Peutz-Jeghers Syndrome Causing Gastroduodenal Intussusception : A Rare Case Report." Journal of Nepal Paediatric Society 43, no. 1 (2023): 108–10. http://dx.doi.org/10.60086/jnps499.

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Peutz-Jeghers syndrome (PJS) is a rare disease characterized by melanotic macular lesions over the pulp of fingers, in oral cavity mucosa, lips, and hamartomatous gastric and intestinal polyps. They usually present with intestinal intussusception or intestinal bleeding; gastroduodenal intussusception is an infrequent presentation. Endoscopic resection or complete surgical excision of the polyp is the treatment of choice. We here present a case of a seven year male with multiple gastric polyps presenting as gastric outlet obstruction.

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Devkota, Yogendra, Nabin Paudyal, and Dhruba Narayan Sah. "JEJUNO-JEJUNAL INTUSSUSCEPTION IN A PATIENT WITH PEUTZ-JEGHERS SYNDROME: A CASE REPORT AND REVIEW." Journal of Chitwan Medical College 12, no. 3 (2022): 121–23. http://dx.doi.org/10.54530/jcmc.1185.

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Peutz-Jeghers syndrome is an autosomal dominant genetic disorder associated with pigmented spots on the skin and mucous membrane especially around oral mucosa, lips, nasal alae, palm and soles, as well as hamartomatous polyps in the alimentary canal. Prevalence of Peutz-Jeghers syndrome is between 1 in 8300 and 1 in 280000 people. Here, we present a case of 18 years old lady who presented with complains of peri-umbilical pain and vomiting for 2 months. Physical examination revealed multiple pigmentations over lips, palms and soles. Ultrasonography was normal. On further evaluation using a cont

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12

Jedrzkiewicz, Jolanta, Keith Quencer, Anna P. Matynia, Ellen Morrow, Maria Pletneva, and Gonzalo Barraza. "Peutz-Jeghers Type Polyp of the Appendix with Review of Literature." Case Reports in Pathology 2019 (July 25, 2019): 1–4. http://dx.doi.org/10.1155/2019/7584070.

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Hamartomatous polyps of Peutz-Jeghers type are strongly associated with Peutz-Jeghers polyposis syndrome and are predominantly encountered in the small intestine. Sporadic cases are uncommonly reported. We report a case of a polyp identified incidentally in the appendix of a patient undergoing diagnostic imaging due to a history of hepatitis C infection. Histopathologic evaluation after appendectomy showed a polyp with bands of muscularis mucosae bundles with arborizing architecture and variable amounts of inspissated mucin, morphologically indistinguishable from Peutz-Jeghers type hamartomato

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Khalil, Ahmed F., Ikram M. Helmy, and Noha Hammad. "Clinical, laboratory, and endoscopic features of colorectal polyps in Egyptian children with lower gastrointestinal bleeding." Alexandria Journal of Pediatrics 38, no. 1 (2025): 51–56. https://doi.org/10.4103/ajop.ajop_17_25.

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Background Pediatric lower gastrointestinal bleeding (LGIB) is a relatively common symptom that merits investigations. Etiologies are heterogeneous, including colorectal polyps, especially in children aged 2–8 years. The majority of childhood polyps are solitary juvenile polyps (JP). Juvenile polyposis syndrome (JPS) involves multiple polyps with risks of anemia and systemic manifestations. Fecal calprotectin (FCP), a widely used marker of gut inflammation, may predict the etiology LGIB and guide endoscopic decisions, but its correlation with polyp features is still understudied. Aim This stud

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14

Lokhmatov, Maksim M., Elisaveta I. Khvatova, Grigoriy A. Korolev, et al. "Giant hamartomic colon polyp in a child with Peitz–Jaegers syndrome." Russian Pediatric Journal 27, no. 6 (2024): 452–56. https://doi.org/10.46563/1560-9561-2024-27-6-452-456.

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Relevance. Peutz–Jeghers syndrome is an orphan variant of hereditary polyposis, which manifests itself by the formation of melanin spots on the mucous membrane, lips, and skin, as well as the formation of hamartomatous polyps in the gastrointestinal tract. The aim of the work is to demonstrate a rare manifestation of Peutz–Jeghers syndrome with a single giant polyp in the colon. Clinical observation. The patient’s parents first began to notice “freckles” in the nasolabial triangle at the age of two years. At the age of 6 years, streaks of blood appeared in the stool. The reason for contacting

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Vidal-Santiago, Daniela, José Emilio Ramírez-Pérez, Cristina Guadalupe Domínguez-León, and Williams Trinidad-Rodríguez. "Intestinal intussusception secondary to polyposis in Peutz-Jeghers syndrome." International Surgery Journal 11, no. 10 (2024): 1689–93. http://dx.doi.org/10.18203/2349-2902.isj20242773.

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Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation. We present a case of intestinal intussusception secondary to these polyps.

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Anwar, Sayeeda, Nusrat Kamal, Rokeya Khanom, Subrota Kumar Roy, Farzana Kabir, and Ramkrishna Saha. "Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report." Journal of Bangladesh College of Physicians and Surgeons 37, no. 3 (2019): 160–64. http://dx.doi.org/10.3329/jbcps.v37i3.41739.

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Peutz-Jeghars Syndrome (PJS), also known as peri-orificial lentiginosis, is a condition of autosomal dominant inheritance. Here, mutation localized at (19p13.3) LKB1/ STK11. It is characterized by presence of mucocutaneous pigmentation and gastrointestinal (GI) hamartomatous polyps. This case of PJS, is a 7 year old girl who came with recurrent vomiting and abdominal pain for 1 year and weight loss for 8 months. She had multiple black pigmentation over lips and buccal mucosa. Endoscopy revealed multiple polyps in stomach and duodenum. Besides supportive management, polyps were removed by surgi

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17

Oh, Seung Jong, Cheong A. Oh, Dae Hoon Kim, et al. "Adenocarcinoma derived from gastric hamartomatous polyps." Journal of the Korean Surgical Society 81, no. 6 (2011): 419. http://dx.doi.org/10.4174/jkss.2011.81.6.419.

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18

Gorji, Leva, and Peter Albrecht. "Hamartomatous polyps: Diagnosis, surveillance, and management." World Journal of Gastroenterology 29, no. 8 (2023): 1304–14. http://dx.doi.org/10.3748/wjg.v29.i8.1304.

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19

Hou, Jun-zhen, Ning-ning Dong, Bing Yue, Fan-dong Meng, and Yong-jun Wang. "Autoimmune gastritis with a gastric hamartomatous inverted polyp and two hyperplastic polyps: a case report." Journal of International Medical Research 51, no. 3 (2023): 030006052311624. http://dx.doi.org/10.1177/03000605231162451.

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We report an unusual case of autoimmune gastritis (AIG) complicated with a submucosal tumor (SMT) and two pedunculated polyps in a 60-year-old man. The patient was admitted for epigastric distention, heartburn, and anorexia. Endoscopy showed an SMT in the fundus, two pedunculated polyps in the body, and markedly atrophic mucosa of the body and fundus. The SMT, measuring 20 mm in diameter, was resected by endoscopic submucosal dissection and histologically diagnosed as a gastric hamartomatous inverted polyp (GHIP), which is characterized by submucosal glandular proliferation, cystic dilatation,

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Rajan, G. Soundara, D. Senthamarai Kannan, Veerasigamani Narendrakmar, and Arya N. Baby. "Large lymphangiomatous polyp present in palatine tonsil: a case report." International Journal of Otorhinolaryngology and Head and Neck Surgery 6, no. 7 (2020): 1351. http://dx.doi.org/10.18203/issn.2454-5929.ijohns20202791.

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<p class="abstract">Lymphangiomatous polyps are rare tumours present in head and neck. Squamous papilloma accounts for majority of benign lesions, whereas vascular tumours are rarely reported. Tonsillar lymphangiomatous polyp is an uncommon hamartomatous lesion that generally arise from tonsillar surface. We present a case of young adolescent female with right tonsillar mass, tonsillectomy performed and post operatively found to be lymphangiomatous polyp, which has been rarely reported.</p>

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Giri, Sobhana, Jiya M. Saju, and Laya Rahul. "Peutz Jeghers syndrome with multiple intussusceptions." International Surgery Journal 9, no. 11 (2022): 1909. http://dx.doi.org/10.18203/2349-2902.isj20222952.

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Peutz Jegher’s syndrome is a rare autosomal dominant disorder characterized by the development of hamartomatous polyps and mucocutaneous melanin pigmentation. This case report shows the case of an adult Indian female with intestinal obstruction due to multiple intussusceptions that were caused by hamartomatous polyp of Peutz Jegher’s syndrome. A 32-year-old female presented to the surgical emergency with complaints of colicky abdominal pain, vomiting and melena and with a positive family history for Peutz Jegher’s syndrome. On abdominal examination, a mass was palpable in her right lumbar area

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Bhandari, Abashesh, Bhupendra Kumar Basnet, Ashlesha Chaudhary, and Aashutosh Chaudhary. "A Case of Juvenile Polyposis Syndrome in a 13-year-old: A Case Report." Journal of Nepal Medical Association 61, no. 259 (2023): 274–76. http://dx.doi.org/10.31729/jnma.8073.

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Juvenile polyposis syndrome is an autosomal dominant syndrome characterised by hamartomatous polyps in the gastrointestinal tract and has a high risk for colon carcinoma. This case explores the presentation of multiple polyps throughout the gastrointestinal tract, located in the stomach, proximal duodenum, colon, rectum and up to the anal canal. The locations and number of these polyps themselves were not typical and the histopathological studies suggested the condition to be an inflammatory fibroid polyp, which is a rare, benign and solitary neoplasm. Prompt and accurate diagnostic modality r

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Mondal, Dr Susankar Kumar, Dr Noor Mahammad, Dr Umme Habiba Dilshad Munmun, Dr Koushik Sikdar, and Dr Tarafder Mohammad Atiquzzaman. "Peutz-Jeghers Syndrome- A Rare Cause of Duodenal Obstruction: A Case Study in a Tertiary Care Hospital in Bangladesh." Scholars Journal of Medical Case Reports 10, no. 7 (2022): 697–99. http://dx.doi.org/10.36347/sjmcr.2022.v10i07.024.

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Peutz-Jeghers syndrome (PJS) is a rare hamartomatous polyposis of the gastrointestinal GI) tract, sometimes associated with pigmentation around lips and oral mucosa. The case of a 4-year-old girl who presented with duodenal obstruction is reported. Along with multiple small polyps in the duodenum, a large polyp was found to be the cause of the duodenal obstruction. Histologically most of the polyps were hamartoma. PJS is a rare autosomal dominant disease. Most patients have recurrent episodes of polyposis in the gastrointestinal tract causing gastrointestinal obstruction as well as these patie

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Hammad, Amir, Zhang Wei, Wang Feng-Yong, Zhu Quanli, and Dong Peng. "Peutz-Jeghers Syndrome with Huge Ileo-Ilial Intussusception: Case Report and Literature Review." International Journal of Pharmaceutical and Clinical Research 16, no. 5 (2024): 989–94. https://doi.org/10.5281/zenodo.11420176.

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Peutz-Jeghers syndrome (PJS) is an inherited polyposis disorder distinguished by the presence of multiple hamartomatous polyps in the gastrointestinal tract. These polyps are specifically observed along the vermilion border of the lip and are associated with pigmentation of the mucosa. A germline mutation in the STK11 (LKB1) gene causes this autosomally dominant inheritance disorder. Mucocutaneous pigmentations most frequently impact the nosoal region, lips, perioral regions, buccal mucosa, eyes, extremities, palms, soles, and perianal areas. Although they can be found anywhere in the gastroin

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Szanto, Paula, Valentina Barbieru, Radu Badea, Teodora Pop, Ioana Rusu, and Nadim Al Hajjar. "Unexpected Peutz-Jeghers Syndrome in an Adult Presenting with Intermittent Upper Intestinal Obstruction. A Case Report." Journal of Gastrointestinal and Liver Diseases 23, no. 1 (2014): 91–94. http://dx.doi.org/10.15403/jgld-1285.

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Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis.

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Chen, Yang-Yuan, Chih-Hsuan Chen, and Hsu-Heng Yen. "Ultrasound color pattern of colonic hamartomatous polyps." Journal of Medical Ultrasound 31, no. 2 (2023): 144. http://dx.doi.org/10.4103/jmu.jmu_161_21.

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Krstic, Miljan, Vuka Katic, Slavica Stojnev, et al. "Peutz-Jeghers syndrome: Quantitative study on enterochromaffin cells in hamartomatous intestine polyps." Srpski arhiv za celokupno lekarstvo 141, no. 9-10 (2013): 602–7. http://dx.doi.org/10.2298/sarh1310602k.

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Introduction. Peutz-Jeghers (PJ) syndrome is a rare familial disorder with the autosomal transmission characterized by multiple intestinal polyps, mucocutaneous pigmentation and increased incidence of various malignancies. Some clinical manifestations of PJ syndrome may be associated with the serotonin secretion from the enterochromaffin cells (EC). Objective. Since no data have been reported so far regarding EC cells in PJ polyps, the aim of our study was to quantitatively investigate EC population in hamartomatous intestinal polyps in patients with the PJ syndrome. Methods. The samples of su

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Issa, Ali. "Sporadic small intestinal hamartomatous polyp: Causative element for obscure gastrointestinal bleeding and iron deficiency anemia: A case report." International Journal of Case Reports and Images 14, no. 1 (2023): 84–88. http://dx.doi.org/10.5348/101389z01ai2023cr.

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The term “obscure gastrointestinal bleeding” (OGIB) refers to gastrointestinal (GI) bleeding that is persistent or recurring and that cannot be distinguished by upper or lower GI endoscopy as a standard diagnostic procedure. There is a rare clinical disorder known as hamartomatous polyp (HP) which is characterized by a tumor-like development made up of mature cells and normal tissue that is distributed or numbered abnormally. The Peutz–Jeghers syndrome, juvenile polyposis syndrome (JPS), and phosphatase and tensin homologue deleted on chromosome 10 (PTEN) hamartoma tumor syndromes are the coll

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Tomey, Vandana S., Sudhir Tomey, Kewal Dhone, and Tanmay Tapase. "Peutz–Jeghers syndrome – Be in need of vigilance: A case report." Journal of Family Medicine and Primary Care 13, no. 12 (2024): 5927–30. https://doi.org/10.4103/jfmpc.jfmpc_958_24.

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ABSTRACT 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 pre

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MSJ, Jeevprita, and Mary Lily S. "Two of a kind: analyzing juvenile polyps in a 5-year-old boy." Romanian Journal of Pediatrics 73, no. 4 (2024): 242–47. https://doi.org/10.37897/rjp.2024.4.7.

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Background. Juvenile polyps are most common benign lesions of the gastrointestinal tract predominantly affecting children. Occasionally, they can also be found in adults. These polyps belong to the group of hamartomatous polyps. Sporadic juvenile polyps generally occur singly, most common in the rectum, and are the leading cause of gastrointestinal bleeding in children. Case report. Here, we present a case of 5-year-old male child with the complaints of constipation for past 2 months and bleeding per rectum for past month. After a polypectomy, he was diagnosed with two synchronous non syndromi

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Marmouk, H. EL, D. Rajih, M. Jarti, et al. "Peutz-Jeghers Syndrome: A Case Report." Scholars Journal of Medical Case Reports 12, no. 04 (2024): 534–36. http://dx.doi.org/10.36347/sjmcr.2024.v12i04.036.

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Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous gastrointestinal polyposis and mucocutaneous pigmentation. We report here the case of a 28-year-old young woman presenting with PJS revealed by an acute small bowel obstruction at the MED VI University Hospital of Marrakech. Surgical exploration revealed hamartomatous polyps necessitating segmental resection. Anatomopathological examination confirmed the diagnosis. Postoperative recovery was uneventful. Surveillance revealed no abnormalities.

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Torres, C., P. Morse, and M. He. "Smooth Muscle Proliferation in Hamartomatous Polyps Mimicking Prolapse in Pediatric Patients with PTEN Hamartoma Tumor Syndrome." American Journal of Clinical Pathology 158, Supplement_1 (2022): S149—S150. http://dx.doi.org/10.1093/ajcp/aqac126.317.

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Abstract Introduction/Objective In the field of pediatric pathology, it is vital to find recognize cases that could be associated with cancer predisposition syndromes. PTEN hamartoma tumor syndrome (PHTS) is an inherited set of disorders caused by germline inactivating mutations of the PTEN tumor suppressor gene. In the GI tract, PHTS is associated with hamartomatous polyps that can display smooth muscle overgrowth. We therefore present a series of three cases of colonic polyps with smooth muscle overgrowth, mimicking prolapse, in pediatric patients with PTEN mutations. Methods/Case Report The

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Anuragi, Gajendra, Afroz I. Bagwan, Ramprakash V. S., Sugumar C., and Naganath B. O. Lakshmanamoorthy. "Acute intestinal obstruction in Peutz Jeghers syndrome: a case report." International Surgery Journal 8, no. 10 (2021): 3168. http://dx.doi.org/10.18203/2349-2902.isj20214017.

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Peutz Jeghers syndrome is an autosomal dominant hereditary disorder affecting male and female equally. It is characterised by mucocutaneous hyperpigmentation and hamartomatous polyp in gastrointestinal tract with increased risk of malignancy. We report here a case of 52-year-old patient with traits of Peutz jeghers syndrome presented with acute intestinal obstruction following colocolic intussusception. Peutz jeghers syndrome is an autosomal dominant inherited disorder. Individual may present in rare case with acute intestinal obstruction associated with intussusception due to polyps.

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Kirakosyan, E. V., M. M. Lokhmatov, and E. Yu Dyakonova. "HIGH-TECH DIAGNOSTIC METHODS AND AN ENTEROSCOPIC TREATMENT OF CHILDREN WITH PEUTZ-JEGHERS SYNDROME." Russian Pediatric Journal 22, no. 1 (2019): 17–22. http://dx.doi.org/10.18821/1560-9561-2019-22-1-17-22.

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Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary hamartomatous polyposis with predominant localization in the jejunum and ileum. Because of PJS polyps differ from adenomatous ones, the performing polypectomy is associated with a high risk of bowel perforation. During 2015-2017 18 PJS children were comprehensively examined including esophagogastroduodenoscopy, colonoscopy, and video capsule endoscopy There was developed a step-by-step procedure for the removal of polyps common in all parts of the small intestine, including the creation of a “persistent pillow”; electroexcision o

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Lokhmatov, M. M., G. A. Korolev, V. S. Luzganova, A. V. Tupylenko, V. I. Oldakovskiy, and T. N. Budkina. "The variety of hamartomatous polypose syndromes in children and adults in the practice of an endoscopist." Filin’s Clinical endoscopy 66, no. 4 (2025): 23–30. https://doi.org/10.31146/2415-7813-endo-66-4-23-30.

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Hamartoma polyps are benign epithelial formations that primarily form in the gastrointestinal tract. Currently, many syndromes that are united by the formation of hamartomas have been described and studied. The term «hamartoma» itself describes neoplasms formed due to a violation of the quantitative ratio of tissue elements and their hyperplasia. The clinical presentation of most gastrointestinal polyps is very similar, while each hamartomatous polyposis syndrome has its own clinical features and unique presentations. This group of diseases is diverse; the most important aspect of this problem

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Attard, T. M., S. C. Abraham, and C. Cuffari. "The Clinical Spectrum of Duodenal Polyps in Pediatrics." Journal of Pediatric Gastroenterology and Nutrition 36, no. 1 (2003): 116–19. http://dx.doi.org/10.1002/j.1536-4801.2003.tb07967.x.

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ABSTRACTObjectivesThe aim of this retrospective study was to determine the prevalence, clinical presentation, and histologic subclassification of duodenal polyps identified on endoscopy (EGD) in pediatric patients.MethodsWe performed an 18‐year retrospective study of all pediatric patients (< 21 years) with duodenal polyps diagnosed between 1983 and 2001 at The Johns Hopkins Children's Center. Our analysis includes a formal histologic evaluation of duodenal polyps either biopsied using cold‐forceps or removed by snare cautery.ResultsDuodenal polyps were reported in 22 of 5766 EGDs (0.4%) pe

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Anjum, Neha, and Harish Chilakala. "A RARE CASE OF PEUTZ-JEGHERS SYNDROME PRESENTING WITH MELENA." Asian Journal of Medical Research & Health Sciences (A-JMRHS) 2, no. 2 (2024): 30. http://dx.doi.org/10.5455/ajmrhs.1107202300023.

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Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps throughout the gastrointestinal tract and distinctive mucocutaneous pigmentation. We present a case of PJS in a 17-year-old male who presented with melena, which led to the discovery of multiple hamartomatous polyps in the small intestine, colon, and stomach. Despite the rarity of this syndrome, prompt recognition of its clinical manifestations, including gastrointestinal bleeding, is crucial for early diagnosis and management. This case underscores the importance of considering PJS in the

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Brown, P. J., S. M. Adam, P. R. Wotton, C. Gibbs, and R. H. Swan. "Hamartomatous Polyps in the Intestine of Two Dogs." Journal of Comparative Pathology 110, no. 1 (1994): 97–102. http://dx.doi.org/10.1016/s0021-9975(08)80274-5.

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GOULD, STUART R. "Hamartomatous Rectal Polyps Are Common in Tuberous Sclerosis." Annals of the New York Academy of Sciences 615, no. 1 Tuberous Scle (1991): 71–80. http://dx.doi.org/10.1111/j.1749-6632.1991.tb37749.x.

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Schiemer, Moritz, Annette Schmitt-Graeff, Volker Brass, and Peter Hasselblatt. "Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome." Zeitschrift für Gastroenterologie 57, no. 04 (2019): 497–500. http://dx.doi.org/10.1055/a-0855-4404.

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AbstractJuvenile polyposis syndrome is a rare autosomal-dominant disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract. It is associated with an increased risk of gastrointestinal cancer. We report the case of a 49-year-old woman presenting with proximal muscle weakness, weight loss, severe anemia, and melena. One year before, the diagnosis of a “fundic gland polyposis” was presumed after endoscopic evaluation for iron deficiency anemia had shown numerous polyps limited to the gastric mucosa. On admission, the diagnosis of dermatomyositis was made based on labor

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Groisman, Gabriel M. "Angiolipofibroma of the Cecum: A Rare Type of Submucosal Polyp." Case Reports in Pathology 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/737015.

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Mesenchymal type tumors originated in the submucosa represent a small percentage of colorectal polyps. This is particularly true for polyps composed of more than one mesenchymal tissue type. We herein present the pathological features of an unusual polypoid proliferation of mature fatty, fibrous, and vascular tissues including vessels of diverse nature and size. The histological findings support a hamartomatous rather than a true neoplastic origin for this rare lesion.

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Jurca, Claudia Maria, Ovidiu Frățilă, Tiberia Iliaș, et al. "A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature." Genes 14, no. 10 (2023): 1909. http://dx.doi.org/10.3390/genes14101909.

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Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the deve

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Bentley, Brian S., and Hassan M. Hal. "Obstructing Hamartomatous Polyp in Peutz-Jeghers Syndrome." Case Reports in Radiology 2013 (2013): 1–3. http://dx.doi.org/10.1155/2013/595341.

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A 53-year-old male presented with complaints of abdominal pain and weight loss. On physical exam he was noted to have mucocutaneous pigmentation around his lips and oral mucosa. Radiologic and endoscopic investigations demonstrated an obstructing mass in the second portion of the duodenum along with additional smaller soft tissue masses throughout the bowel. Histology of biopsied specimens revealed architectural disorganization without dysplasia, suggestive of Peutz-Jeghers hamartomatous polyps.

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Miyahara, Kiyoshi, Shunichi Tobe, Tatsunori Shizuku, Rin Inamoto, and Ikuo Katayama. "Colon cancer of Peutz-Jeghers syndrome with gallolyticus endocarditis." Clinical Journal of Gastroenterology 13, no. 4 (2019): 517–21. http://dx.doi.org/10.1007/s12328-019-01080-9.

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AbstractWe report a case of Peutz-Jeghers syndrome with gallolyticus endocarditis which has not yet been reported. Colon cancer was observed and implicated in Peutz-Jeghers syndrome. A 44-year-old female with fever and heart murmur was diagnosed as infective endocarditis caused by streptococcus gallolyticus. After treatment with antibiotics and mitral valbuloplasty, we performed gastrointestinal endoscopic studies and found polyps in stomach and colon. Histological findings of a large pedunculated colon polyp revealed hamartomatous polyp with a lesion of adenocarcinoma with adenoma. She had pi

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Hudson, VE, S. Rooney, S. Pursglove, D. Bhojwani, and S. Gourgiotis. "Small bowel intussusception and concurrent jejunal polyp with neoplastic transformation: a new diagnosis of Peutz–Jeghers syndrome." Annals of The Royal College of Surgeons of England 104, no. 3 (2022): e84-e86. http://dx.doi.org/10.1308/rcsann.2021.0142.

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Peutz–Jeghers syndrome (PJS) is a rare hereditary disease characterised by hyperpigmentation of the oral mucosa and gastrointestinal hamartomatous polyps. We report a case of a 27-year-old man who presented with a 5-day history of epigastric pain and rectal bleeding. Computed tomography suggested small bowel obstruction secondary to ileocolic intussusception and an incidental polyp in the mid jejunum. The patient underwent exploratory laparotomy during which right hemicolectomy and small bowel resection were performed. Histology from surgical specimens revealed Peutz–Jeghers polyps, one of whi

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Chan, Owen T. M., and Parviz Haghighi. "Hamartomatous Polyps of the Colon: Ganglioneuromatous, Stromal, and Lipomatous." Archives of Pathology & Laboratory Medicine 130, no. 10 (2006): 1561–66. http://dx.doi.org/10.5858/2006-130-1561-hpotcg.

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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, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. The ganglioneuromatous polyposis subgroup is not known to coexist with systemic disorders that often have an associated intestinal polyposis, such as multiple endocrine neoplasia type IIb, neurofibromatosis t

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Tanaka, Hiroaki, Mitsuo Iida, Norio Kohrogi, et al. "Endoscopic removal of solitary hamartomatous polyps of the duodenum." Gastrointestinal Endoscopy 36, no. 6 (1990): 640–42. http://dx.doi.org/10.1016/s0016-5107(90)71207-2.

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Iishi, Hiroyasu, Masaharu Tatsuta, and Sigeru Okuda. "Clinicopathological features and natural history of gastric hamartomatous polyps." Digestive Diseases and Sciences 34, no. 6 (1989): 890–94. http://dx.doi.org/10.1007/bf01540275.

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Huang, Sherry C., Jeffrey K. Lee, E. Julieta Smith, et al. "Evidence for an hMSH3 defect in familial hamartomatous polyps." Cancer 117, no. 3 (2010): 492–500. http://dx.doi.org/10.1002/cncr.25445.

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Lakhey, A., and H. Shakya. "PeutzJeghers syndrome: A case report and literature review." Journal of Pathology of Nepal 4, no. 8 (2014): 677–79. http://dx.doi.org/10.3126/jpn.v4i8.11597.

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Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.

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