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 Peutz-Jeghers syndrome: A case report

2021 ◽  
Vol 12 (7) ◽  
pp. 154-156
Author(s):  
Pratima Poudel ◽  
Roushan Jahan
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Autosomal Dominant ◽  
Recurrent Abdominal Pain ◽  
Tubulovillous Adenoma ◽  
Surgical Department ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Adenoma Patient

Peutz-jeghers syndrome is a rare inherited autosomal dominant disease which is characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report a case of 10 years old female who was referred to us from surgical department for the evaluation of brownish pigmented macules over lips, face, palms and soles. Patient was presented with recurrent abdominal pain along with vomiting and blood mixed stool for a month. Ultrasound of abdomen revealed jejuno-jejunal intussusception for which laparotomy was done during which multiple polyps were visualized. Polypectomy was done and biopsy revealed it to be tubulovillous adenoma. Patient was diagnosed as Peutz-jeghers syndrome as there were multiple polyps in the jejunum along with the characteristics mucocutaneous involvement.

scholarly journals Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

GASTROINTESTINAL POLYPOSIS WITH MUCOCUTANEOUS PIGMENTATION IN CHILDREN (PEUTZ-JEGHERS SYNDROME)

PEDIATRICS ◽  
1961 ◽  
Vol 28 (4) ◽  
pp. 655-661
Author(s):  
James E. Wenzl ◽  
Lloyd G. Bartholomew ◽  
George A. Hallenbeck ◽  
Gunnar B. Stickler
Keyword(s):  
Small Intestine ◽  
Abdominal Pain ◽  
Surgical Treatment ◽  
Gastrointestinal Bleeding ◽  
Recurrent Abdominal Pain ◽  
Malignant Change ◽  
Review Of The Literature ◽  
Gastrointestinal Polyposis ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

A case is reported in which a child had gastrointestinal polyposis associated with mucocutaneous pigmentations (the Peutz-Jeghers syndrome). He experienced severe recurrent abdominal pain caused by intermittent intussusception. Removal of the grossly palpable polyps from the small intestine and stomach controlled his symptoms. On the basis of a review of the literature it has become apparent that this disease may first become manifest during childhood. The symptoms are primarily those of recurrent abdominal pain and gastrointestinal bleeding in the presence of mucocutaneous pigmentation. The prognosis associated with this disease is excellent, and the risk of malignant change, if it really exists, is minimal. For this reason, it is urged that surgical treatment be conservative rather than radical, to avoid unnecessary loss of intestine.

scholarly journals Obstructing Hamartomatous Polyp in Peutz-Jeghers Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Brian S. Bentley ◽  
Hassan M. Hal
Keyword(s):  
Weight Loss ◽  
Abdominal Pain ◽  
Soft Tissue ◽  
Oral Mucosa ◽  
Physical Exam ◽  
Hamartomatous Polyp ◽  
Hamartomatous Polyps ◽  
Mucocutaneous Pigmentation ◽  
Soft Tissue Masses ◽  
Peutz Jeghers Syndrome

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.

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.

Recurrent abdominal pain: A five-year follow-up study

2007 ◽  
Vol 94 (2) ◽  
pp. 234-236 ◽  
Author(s):  
Ketil Størdal ◽  
Egil André Nygaard ◽  
Beint S Bentsen
Keyword(s):  
Abdominal Pain ◽  
Recurrent Abdominal Pain ◽  
Follow Up Study

scholarly journals Seven-Year Follow-Up of Peutz-Jeghers Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Hamid Reza Mozaffari ◽  
Fetemeh Rezaei ◽  
Roohollah Sharifi ◽  
S. Ghasem Mirbahari
Keyword(s):  
Female Patient ◽  
Colorectal Polyps ◽  
Rectal Polyp ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

One of the clinicopathological criteria for diagnosing Peutz-Jeghers syndrome (PJS) is mucocutaneous pigmentation. We present a 57-year-old Iranian female patient with diffuse pigmentation in buccal and labial mucosa. The first colonoscopy revealed one 0.5 cm rectal polyp. However surveillance colonoscopies over a 7-year polyp showed over 100 colorectal polyps.

Recurrent abdominal pain: A five-year follow-up study

2005 ◽  
Vol 94 (2) ◽  
pp. 234-236 ◽  
Author(s):  
Ketil Størdal ◽  
Egil Nygaard ◽  
Beint Bentsen
Keyword(s):  
Abdominal Pain ◽  
Recurrent Abdominal Pain ◽  
Follow Up Study
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