scholarly journals Unexpected Peutz-Jeghers Syndrome in an Adult Presenting with Intermittent Upper Intestinal Obstruction. A Case Report

2014 ◽  
Vol 23 (1) ◽  
pp. 91-94
Author(s):  
Paula Szanto ◽  
Valentina Barbieru ◽  
Radu Badea ◽  
Teodora Pop ◽  
Ioana Rusu ◽  
...  
Keyword(s):  
Case Report ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
Autosomal Dominant ◽  
Inherited Disease ◽  
Hamartomatous Polyps ◽  
Atypical Form ◽  
Hamartomatous Polyposis Syndromes ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome

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.

scholarly journals Peutz-Jeghars’ syndrome, a rare genetic disorder: A case report

2020 ◽  
Vol 3 (7) ◽  
Author(s):  
Fabia Hannan Mone ◽  
Kuntal Roy ◽  
Gazi Zahirul Hasan, ◽  
Kaushik Roy ◽  
Qazi Sazib Ahamed, ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Hamartomatous Polyps ◽  
Gastrointestinal Malignancy ◽  
Increased Risk ◽  
Hamartomatous Polyposis Syndromes ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome

Abstract: Hamartomatous polyposis syndromes or Peutz-Jeghers syndrome (PJS) is a hereditary autosomal dominant disease characterized by benign hamartomatous polyps and mucocutaneous pigmentation in the digestive tract. It occurs mostly in the small intestine during first decade of life but frequently in the colon and stomach. Only a few cases have been reported in the duodenum1. Polyposis syndromes are common cause of adult intussusceptions, with polyps acting as lead points. Adult intussusceptions are rare and is almost always associated with that lead point2. Although hamartomatous polyps are not pre-malignant, there is an increased risk of gastrointestinal and non-gastrointestinal malignancy, commonly involving the small bowel. Most patients of PJS presents with acute abdomen and diagnosed as intussusceptions, commonly entero-enteric type but colo-colic intussusceptions are rare in Peutz-Jeghers syndrome3. To the best of our knowledge, synchronous colo-colic intussusception association in Peutz-Jeghers syndrome has not been previously reported.

scholarly journals Hamartomatous Polyps and Associated Syndromes

2016 ◽  
Vol 29 (04) ◽  
pp. 330-335 ◽  
Author(s):  
Molly Cone
Keyword(s):  
Colorectal Cancer ◽  
Gastrointestinal Tract ◽  
Autosomal Dominant ◽  
Juvenile Polyposis Syndrome ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Hamartomatous Polyps ◽  
Hereditary Syndromes ◽  
Colon And Rectum ◽  
Peutz Jeghers Syndrome

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, colorectal surveillance, and management.

scholarly journals PeutzJeghers syndrome: A case report and literature review

2014 ◽  
Vol 4 (8) ◽  
pp. 677-679
Author(s):  
A Lakhey ◽  
H Shakya
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Physical Examination ◽  
Rectal Bleeding ◽  
Buccal Mucosa ◽  
Autosomal Dominant ◽  
Hamartomatous Polyps ◽  
Pigmented Lesions ◽  
History Of ◽  
Peutz Jeghers Syndrome

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/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 677-679

scholarly journals Acute intestinal obstruction in Peutz Jeghers syndrome: a case report

2021 ◽  
Vol 8 (10) ◽  
pp. 3168
Author(s):  
Gajendra Anuragi ◽  
Afroz I. Bagwan ◽  
Ramprakash V. S. ◽  
Sugumar C. ◽  
Naganath B. O. Lakshmanamoorthy
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Acute Intestinal Obstruction ◽  
Hamartomatous Polyp ◽  
Male And Female ◽  
Increased Risk ◽  
Risk Of Malignancy ◽  
Peutz Jeghers Syndrome

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.

scholarly journals Hamartomatous Polyposis Syndromes: Management and Surveillance Strategies

2020 ◽  
Author(s):  
Sima Sedighi ◽  
Mohammad Hassan Jokar ◽  
Maliheh Moradzadeh
Keyword(s):  
Process Management ◽  
Clinical Symptoms ◽  
Cowden Syndrome ◽  
Hamartomatous Polyps ◽  
Clinical Criteria ◽  
Hamartomatous Polyposis Syndromes ◽  
Polyposis Syndromes ◽  
Hamartomatous Polyposis ◽  
Peutz Jeghers Syndrome ◽  
Clinical Awareness

Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract. This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome (BRRS), and Proteus Syndrome.Diagnosis of Hamartum polyarthritis syndrome (HPS) is routinely made based on clinical criteria, but sometimes the diagnosis of this syndrome becomes problematic due to the varying severity of clinical symptoms even within a family.Therefore, today, genetic testing of germ-related mutations associated with this disease is used in the diagnosis process. Management strategy of the syndrome is different due to extra-intestinal symptoms and various cancers. Clinical awareness and early diagnosis of HPS is important, so it is recommended to patients and families at risk for genetic counseling and care. Surveillance in children with HPS might prevent intestinal and extra-intestinal disorders, and reduce the risk of intestinal cancer or breast cancer in adults.

scholarly journals A 16-Year-Old Female with Peutz-Jeghers Syndrome

2014 ◽  
Vol 4 (3) ◽  
pp. 184-187
Author(s):  
Mufti Munsurar Rahman ◽  
Mamunur Rashid ◽  
Rukhsana Parvin ◽  
Arun Joyati Tarafder
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
Buccal Mucosa ◽  
Autosomal Dominant ◽  
Previous History ◽  
Autosomal Dominant Disorder ◽  
Colicky Abdominal Pain ◽  
History Of ◽  
Peutz Jeghers Syndrome

Peutz-Jeghers syndrome is a rare autosomal dominant disorder of hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips and macules on the buccal mucosa that typically manifests itself as recurrent colicky abdominal pain and intestinal obstruction due to intussusception. Here we report a case of a 16-year-old girl who presented with abdominal pain, vomiting and previous history of laparotomy for intussusception. Multiple well demarcated black pigmented macules on lips, perioral region, buccal mucosa, digits, palms and soles were noted. She was diagnosed as a case of Peutz-Jeghers syndrome and managed conservatively. DOI: http://dx.doi.org/10.3329/jemc.v4i3.20958 J Enam Med Col 2014; 4(3): 184-187

Biliary cirrhosis secondary to bile duct obstruction by hamartomatous polyps in a patient with Peutz–Jeghers syndrome. Case Report

2017 ◽  
Vol 40 (7) ◽  
pp. 459-462
Author(s):  
Miguel Angel Vichido-Luna ◽  
Flora Zárate-Mondragón ◽  
María Antonieta Mora-Tiscareño ◽  
Roberto Cervantes-Bustamante ◽  
Jaime Alfonso Ramírez-Mayans
Keyword(s):  
Case Report ◽  
Bile Duct ◽  
Bile Duct Obstruction ◽  
Biliary Cirrhosis ◽  
Hamartomatous Polyps ◽  
Duct Obstruction ◽  
Peutz Jeghers Syndrome

Peutz-jeghers syndrome associated with adenocarcinoma of the cecum and focal carcinomas in hamartomatous polyps of the colon: A case report

1991 ◽  
Vol 21 (2) ◽  
pp. 220-223 ◽  
Author(s):  
Ken Niimi ◽  
Hirotsugu Tomoda ◽  
Motonosuke Furusawa ◽  
Itsurou Hayashi ◽  
Yukiya Okumura
Keyword(s):  
Case Report ◽  
Hamartomatous Polyps ◽  
Peutz Jeghers Syndrome

scholarly journals Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report

2019 ◽  
Vol 37 (3) ◽  
pp. 160-164
Author(s):  
Sayeeda Anwar ◽  
Nusrat Kamal ◽  
Rokeya Khanom ◽  
Subrota Kumar Roy ◽  
Farzana Kabir ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Autosomal Dominant ◽  
Recurrent Abdominal Pain ◽  
Hamartomatous Polyps ◽  
Recurrent Vomiting ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome ◽  
Supportive Management ◽  
Black Pigmentation

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 surgical intervention. Biopsy of these polyps showed hamartomatous type. Post operative period was uneventful. She recovered well. So far there was no recurrence of pain. She is on regular follow up. J Bangladesh Coll Phys Surg 2019; 37(3): 160-164

scholarly journals Chronic intestinal pseudo-obstruction in newborn: a case report

2020 ◽  
Vol 7 (6) ◽  
pp. 1431
Author(s):  
Mahmoud M. Osman ◽  
Ahmed Hassan Sherif ◽  
Mohammed Saleh Alissa ◽  
Suzan Abdel Hamid ◽  
Adel Abdelsalam Alatar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
Mechanical Obstruction ◽  
Imaging Studies ◽  
Primary Defect ◽  
Neonatal Intestinal Obstruction ◽  
Rare Differential Diagnosis ◽  
Intestinal Pseudo Obstruction

Chronic intestinal pseudo-obstruction (CIPO) is a rare and serious disorder of the gastrointestinal tract motility with the primary defect of impaired peristalsis. Symptoms are consistent with a bowel obstruction, although mechanical obstruction cannot be identified. It is a rare differential diagnosis for neonatal intestinal obstruction. Herein we report a case of neonate with non-resolving intestinal pseudo-obstruction, presenting since birth as progressive abdominal distention. The diagnosis was made by exclusion of mechanical causes of intestinal obstruction via thorough imaging studies.

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