Utility of Wood's light in the preliminary diagnosis of atypical Peutz–Jeghers syndrome

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.

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SYNCHRONOUS MUCINOUS METAPLASIA AND NEOPLASIA OF THE FEMALE GENITAL TRACT WITHOUT PEUTZ JEGHERS SYNDROME: A CASE REPORT WITH LITERATURE REVIEW.

10.26226/morressier.5770e29cd462b80290b4bbd0 ◽

2016 ◽

Author(s):

Lili Fu

Keyword(s):

Case Report ◽

Literature Review ◽

Genital Tract ◽

Female Genital Tract ◽

Peutz Jeghers Syndrome ◽

Female Genital

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

African Journal of Urology ◽

10.1186/s12301-021-00172-8 ◽

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.

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Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01900-7 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Yu-Liang Jiang ◽

Xiao-Dong Xu ◽

Bai-Rong Li ◽

En-Da Yu ◽

Zi-Ye Zhao ◽

...

Keyword(s):

Clinical Presentation ◽

Novel Mutation ◽

Delayed Diagnosis ◽

Personal History ◽

Pathological Examination ◽

The Novel ◽

Novel Mutations ◽

The Family ◽

Genetic Level ◽

Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

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Peutz-Jeghers syndrome in a woman presenting as intussusception: A case report

International Journal of Surgery Case Reports ◽

10.1016/j.ijscr.2021.01.053 ◽

2021 ◽

Vol 79 ◽

pp. 286-290

Author(s):

Erwin Syarifuddin ◽

Rina Masadah ◽

Ronald Erasio Lusikooy ◽

Warsinggih ◽

Julianus Aboyaman Uwuratuw ◽

...

Keyword(s):

Case Report ◽

Peutz Jeghers Syndrome

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Preliminary Diagnosis of COVID-19 Based on Cough Sounds Using Machine Learning Algorithms

2021 5th International Conference on Intelligent Computing and Control Systems (ICICCS) ◽

10.1109/iciccs51141.2021.9432324 ◽

2021 ◽

Author(s):

Arup Anupam ◽

N Jagan Mohan ◽

Sudarsan Sahoo ◽

Sudipta Chakraborty

Keyword(s):

Machine Learning ◽

Learning Algorithms ◽

Machine Learning Algorithms ◽

Preliminary Diagnosis

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Appendiceal cancer leading to intussusception detected incidentally during follow-up for Peutz–Jeghers syndrome

Clinical Journal of Gastroenterology ◽

10.1007/s12328-020-01200-w ◽

2020 ◽

Vol 13 (6) ◽

pp. 1136-1143

Author(s):

Kazuhiro Kurihara ◽

Takanori Suganuma

Keyword(s):

Malignant Tumors ◽

Endoscopic Examination ◽

Autosomal Dominant Disorder ◽

Tomography Image ◽

Elevated Lesion ◽

Poorly Differentiated ◽

Lower Endoscopy ◽

Peutz Jeghers Syndrome ◽

Computed Tomography Image

AbstractPeutz–Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous polyposis, pigmentation, and malignant tumors. We report a case of ileocecal carcinoma that was incidentally detected during follow-up for Peutz–Jeghers syndrome. A 39-year-old man with solitary Peutz–Jeghers syndrome had undergone three abdominal surgeries. He had been followed up via upper and lower gastrointestinal endoscopy and small intestinal endoscopy. In the endoscopic examination of the lower gastrointestinal tract, a 35 mm large, bumpy, elevated lesion was observed in the cecum. This lesion was not observed 9 months earlier during lower endoscopy. Biopsy of the specimen confirmed tubulovillous adenoma and carcinoma. This lesion was judged to be an indication for operation, and we performed ileocecectomy + D3 lymph node dissection. From the excised specimen, poorly differentiated carcinoma and adenoma components in contact with Peutz–Jeghers-type polyps in the appendix were recognized. A review of the computed tomography image obtained 2 years ago confirmed appendiceal swelling. We suspect that the ileocecal carcinoma in the appendix may have rapidly developed within the 9 months, and was incidentally detected on lower endoscopic examination during follow-up. For the prevention of appendicular tumorigenesis, prophylactic appendectomy may be considered in certain cases during follow-up for Peutz–Jeghers syndrome.

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