Gastrointestinal Polyposis with Mucocutaneous Pigmentation (Peutz–Jeghers Syndrome)

1957 ◽  
Vol 256 (24) ◽  
pp. 1141-1146 ◽  
Author(s):  
Thomas L. Dormandy
Keyword(s):  
Gastrointestinal Polyposis ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

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 Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome

2018 ◽  
Vol 31 (12) ◽  
pp. 1381-1386 ◽  
Author(s):  
Judith S. Renes ◽  
Jeroen Knijnenburg ◽  
Sharmila Chitoe-Ramawadhdoebe ◽  
Johan J.P. Gille ◽  
Christiaan de Bruin ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Snp Array ◽  
Bone Age ◽  
Tall Stature ◽  
Single Nucleotide ◽  
Case Presentation ◽  
Gastrointestinal Polyposis ◽  
Common Causes ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

Abstract Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Extensive endocrine evaluation, mutation analysis of genes associated with connective tissue disorders and a single nucleotide polymorphism (SNP) array showed no abnormalities. At 8 years of age, gynecomastia developed as well as pigmentations on the lips, both of which are associated with PJS. Mutation analysis showed a heterozygous deletion of the whole STK11 gene confirming PJS. Testicular ultrasound confirmed the presence of LCSTs. Interestingly, the previously performed SNP array did not report deletion of the STK11 gene. Conclusions We advise excluding LCSTs in children with tall stature and advanced bone age where more common causes have been eliminated. Although STK11 deletions are documented in control databases, reporting the deletion of this gene even in the absence of a phenotype is advised for patient management.

Giant Solitary Gastric Peutz-Jeghers Polyp Mimicking a Malignant Gastric Tumor: the Largest Described in Literature

2014 ◽  
Vol 23 (3) ◽  
pp. 321-324 ◽  
Author(s):  
Sorinel Lunca ◽  
Vlad Porumb ◽  
Natalia Velenciuc ◽  
Dan Ferariu ◽  
Gabriel Dimofte
Keyword(s):  
Upper Gastrointestinal Bleeding ◽  
Rare Event ◽  
Gastric Tumor ◽  
Node Metastasis ◽  
Mucocutaneous Pigmentation ◽  
History Of ◽  
Peutz Jeghers Syndrome ◽  
Upper Gastrointestinal ◽  
Gastric Malignancy ◽  
Polypoid Tumor

A solitary Peutz-Jeghers polyp is defined as a unique polyp occurring without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome. Gastric solitary localization is a rare event, with only eight reported cases to date. We report herein the case of a 43-year old woman who presented with upper gastrointestinal bleeding, severe anemia, weight loss and asthenia. Endoscopy revealed a giant polypoid tumor with signs of neoplastic invasion of the cardia, with pathological aspect suggesting a Peutz-Jeghers hamartomatous polyp. Computed tomography suggested a malignant gastric tumor and a total gastrectomy was performed. The pathological specimen showed a giant 150/70/50 mm polypoid tumor and immunochemistry established the final diagnostic of a Peutz-Jegers type polyp. This is the largest solitary Peutz-Jeghers gastric polyp reported until now, and the second one mimicking a gastric malignancy with lymph node metastasis.

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.

Solitary Peutz-Jeghers Type Polyp of Jejunum with Gastric Fundic and Antral Gland Lining Mucosa: A Case Report and Review of Literature

2021 ◽  
pp. 106689692110677
Author(s):  
Bella Lingjia Liu ◽  
Huifang Zhou ◽  
Martina Risech ◽  
Alex Ky ◽  
Jane Houldsworth ◽  
...  
Keyword(s):  
Family History ◽  
Small Bowel ◽  
Smooth Muscles ◽  
Fundic Gland ◽  
Muscularis Mucosa ◽  
Hamartomatous Polyp ◽  
Gi Tract ◽  
First Case ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

Solitary Peutz-Jeghers type polyps are characterized by a hamartomatous polyp of the gastrointestinal (GI) tract in a patient without mucocutaneous pigmentation, family history of Peutz-Jeghers syndrome, or STK11/LKB1 mutations. Histologically identical to the polyps in Peutz-Jeghers syndrome, these sporadic polyps can arise anywhere along the GI tract, with typical arborizing smooth muscles extending from the muscularis mucosa. While the lining mucosa is generally the same as the organ in which it arises, gastric pyloric and osseous metaplasia have been reported in intestinal polyps in Peutz-Jeghers syndrome. Herein, the authors report the first case of a small intestinal solitary Peutz-Jeghers type polyp with gastric antral and fundic gland lining mucosa. A 43-year-old male was admitted for small bowel obstruction. Diagnostic laparoscopy revealed jejuno-jejunal intussusception with an associated polyp measuring 7.2 cm. Histological examination showed a hamartomatous polyp with arborizing smooth muscle bundles extending from the muscularis mucosae. The polyp was lined by non-dysplastic gastric antral and fundic gland mucosa, and was sharply demarcated from the adjacent non-polypoid intestinal mucosa. Colonoscopy, esophagogastroduodenoscopy and small bowel enteroscopy revealed no additional polyps or masses. Thorough investigation of the patient's family history was negative for Peutz-Jeghers syndrome or mucocutaneous pigmentation. Molecular analysis of the lesion was negative for STK11/LKB1 mutations. A diagnosis of solitary Peutz-Jeghers type polyp of the small bowel with gastric antral and fundic gland mucosal lining was rendered.

LKB1 deficiency in T cells promotes the development of gastrointestinal polyposis

Science ◽  
2018 ◽  
Vol 361 (6400) ◽  
pp. 406-411 ◽  
Author(s):  
M. C. Poffenberger ◽  
A. Metcalfe-Roach ◽  
E. Aguilar ◽  
J. Chen ◽  
B. E. Hsu ◽  
...  
Keyword(s):  
T Cells ◽  
Cancer Progression ◽  
Immune Cell ◽  
Inflammatory Factors ◽  
Gastrointestinal Polyposis ◽  
Cancer Predisposition Syndrome ◽  
Stat3 Signaling ◽  
Liver Kinase B1 ◽  
Peutz Jeghers Syndrome ◽  
Transcription 3

Germline mutations in STK11, which encodes the tumor suppressor liver kinase B1 (LKB1), promote Peutz–Jeghers syndrome (PJS), a cancer predisposition syndrome characterized by the development of gastrointestinal (GI) polyps. Here, we report that heterozygous deletion of Stk11 in T cells (LThet mice) is sufficient to promote GI polyposis. Polyps from LThet mice, Stk11+/− mice, and human PJS patients display hallmarks of chronic inflammation, marked by inflammatory immune-cell infiltration, signal transducer and activator of transcription 3 (STAT3) activation, and increased expression of inflammatory factors associated with cancer progression [interleukin 6 (IL-6), IL-11, and CXCL2]. Targeting either T cells, IL-6, or STAT3 signaling reduced polyp growth in Stk11+/− animals. Our results identify LKB1-mediated inflammation as a tissue-extrinsic regulator of intestinal polyposis in PJS, suggesting possible therapeutic approaches by targeting deregulated inflammation in this disease.

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

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