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

Intestinal obstruction with oral pigmentation: a clue to Peutz-Jeghers syndrome

2021 ◽  
Vol 14 (4) ◽  
pp. e239079
Author(s):  
Ankit Sahoo ◽  
Pradeep Singh ◽  
Swastik Mishra
Keyword(s):  
Intestinal Obstruction ◽  
Clinical Examination ◽  
Autosomal Dominant ◽  
Iliac Fossa ◽  
Autosomal Dominant Disorder ◽  
Appropriate Treatment ◽  
History Of ◽  
Peutz Jeghers Syndrome ◽  
Prompt Diagnosis ◽  
Strong Suspicion

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, which manifests as mucocutaneous hyperpigmentation and, intestinal and extraintestinal polyps. The classic triad of abdominal pain, mass and jam-like stools are not found commonly. On clinical examination, a strong suspicion of PJS should be made if patients below 18 years, present with mucocutaneous hyperpigmentation and intestinal obstruction. We report a case of a 16-year-old woman who presented to the surgical emergency with a 1-day history of acute pain in abdomen, in right iliac fossa and features of intestinal obstruction. A thorough history and clinical examination supported by diagnostic imaging should be done in suspicious cases for prompt diagnosis and appropriate treatment.

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 Abdomen agudo en un adolescente con poliposis juvenil. A propósito de un caso

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
Rubén Muñoz Cedeño ◽  
Michelle Ricaurte Enriquez ◽  
Priscila Martínez Ballesteros ◽  
Viviana Paullán Sani ◽  
Gema Rodríguez Chica
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Tract ◽  
Autosomal Dominant ◽  
Acute Abdominal Pain ◽  
Exploratory Laparotomy ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Juvenile Polyps ◽  
History Of ◽  
Dominant Condition

Juvenile polyposis syndrome is an autosomal-dominant condition disease characterized by multiple juvenile polyps in the gastrointestinal tract. These polyps may be present in the entire digestive tract; generally in the colon. We present the case of a 16-year-old adolescent with a history of polyps, who had had bowel resections for acute abdomen on two occasions (at 5 and 11 years of age). Endoscopic procedures were carried out, finding polyps and performing a polypectomy. After 24 hours, the patient presented proctorrhagia associated with acute abdominal pain by an obstruction, for which he was surgically intervened with an exploratory laparotomy where an intussusception was found.

scholarly journals Intestinal Obstruction due to Colonic Lithobezoar: A Case Report and a Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Metin Şenol ◽  
Zehra Ünal Özdemir ◽  
İbrahim Tayfun Şahiner ◽  
Hakan Özdemir
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
General Anesthesia ◽  
Digestive Tract ◽  
Foreign Bodies ◽  
Review Of The Literature ◽  
History Of ◽  
Vegetables And Fruits

Bezoar is defined as the accumulation of undigested foreign bodies or nutrients in the gastrointestinal tract. These foreign bodies can be hair (trichobezoar), fibers or seeds of vegetables and fruits (phytobezoar), or remnants of milk (lactobezoar) and stones (lithobezoar). Lithobezoar, the accumulation of stones in the digestive tract, is commonly seen in stomach. In this paper, a 7-year-old girl with colonic lithobezoar who presented with constipation, abdominal pain, and the history of pica was successfully treated by the extraction of the stones under general anesthesia.

scholarly journals Clinical criteria for Peutz-Jeghers syndrome diagnosis: Look for what is missing

2020 ◽  
pp. 22-23
Keyword(s):  
Intestinal Obstruction ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Melanin Pigmentation ◽  
Gastrointestinal Polyposis ◽  
Clinical Criteria ◽  
Syndrome Diagnosis ◽  
Peutz Jeghers Syndrome

The Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous gastrointestinal polyposis and mucocutaneous melanin pigmentation. In this report we discuss diagnostic circumstances of new PJS family. Keywords: Intestinal obstruction; intussusception; Peutz-Jeghers syndrome; polyps; surgery.

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 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 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

Cowden’s disease: a rare cause of oral papillomatosis

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell
Keyword(s):  
Gastrointestinal Tract ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Past History ◽  
Breast Malignancy ◽  
Autosomal Dominant Condition ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
History Of ◽  
Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

scholarly journals Diagnosis, Management and Outcomes of Intestinal Obstruction at an Urban Tertiary Hospital in Sub Saharan Africa: a Cross-Sectional Study.

2021 ◽  
Author(s):  
Arlene Muzira Nakanwagi ◽  
Stephen C Kijjambu ◽  
Tonny Stone Luggya
Keyword(s):  
Abdominal Pain ◽  
Intestinal Obstruction ◽  
Hospital Stay ◽  
Abdominal Distension ◽  
Sub Saharan Africa ◽  
Prolonged Hospital Stay ◽  
Bowel Sounds ◽  
Colicky Abdominal Pain ◽  
Validated Questionnaire ◽  
Prolonged Hospital

Abstract BACKGROUND: Intestinal Obstruction (IO) is among the commonest causes of acute abdomen worldwide and globally it remains a challenge because it is a major cause of morbidity and surgical financial expenditure. Clinically it presents with nausea, vomiting, colicky abdominal pain and cessation of bowel movements or passage flatus and stool. Diagnosis can be clinical but is confirmed usually by radiologic imaging. We studied the current diagnosis, management and outcomes of IO in Mulago HospitalMATERIALS AND METHODS: This was a Prospective Descriptive Study in all the surgical units of Mulago from January to May 2014. Ethical approval was got in line with Helsinki declaration and then a pretested and validated questionnaire was used to collect data. Informed consent was got with eligible and consenting/assenting patients recruited among those patients of all ages and sex presenting with suspected Intestinal Obstruction. Uni-variate and bi-variate of the variables plus measurements of associations were done.RESULTS: We enrolled 135 patients, excluded 25 and recruited 110 patient with more males than females i.e. 71.8% males and 28.2% females. Colicky abdominal pain, abdominal distension, and vomiting were the 3 commonest symptoms with abdominal distension, increased bowel sounds and abdominal tenderness as commonest signs. Majority of the patients were diagnosed radiologically (51%) and the rest (48.2%) clinically diagnosed accounting. “Dilated bowel loops” was the most frequent radiological sign. Return of bowel sounds occurred within 5 days of the POD, while opening of bowels on average, occurred on the 3rd POD. The mean day of discharge was the 5th POD and 73% of the patients were discharged by the 7th Post-Operative Day. The commonest unfavourable management outcome noted was prolonged hospital stay followed by wound sepsis (Surgical Site Infection) and MortalityCONCLUSION: Majority of the patients were diagnosed radiologically (51%). surgical management was done for 72.7% of the cases and 27.3% conservatively managed. Prolonged hospital stay was the commonest unfavorable outcome of management

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