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.

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.

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 Long-Term Outcome in Patients with a Solitary Peutz-Jeghers Polyp

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Masaya Iwamuro ◽  
Yuki Aoyama ◽  
Seiyuu Suzuki ◽  
Sayo Kobayashi ◽  
Tatsuya Toyokawa ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Mucocutaneous Pigmentation ◽  
History Of ◽  
Mean Size ◽  
The Mean ◽  
Peutz Jeghers Syndrome

Background. Clinical characteristics and prognosis of patients with a solitary Peutz-Jeghers polyp (PJP) have not been fully investigated. Methods. Solitary PJP was diagnosed when a single hamartomatous lesion was identified in the gastrointestinal tract of patients without mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome. We retrospectively reviewed 51 patients (32 men and 19 women) with a solitary PJP and analyzed the sex, age at diagnosis, endoscopic features, and outcomes in this patient group. The STK11/LKB1 germline mutation was not investigated in any of the patients. Results. The mean age of the 51 patients was 66.1 years. The polyp was found in the duodenum (N=10), jejunum (N=2), cecum (N=2), transverse colon (N=5), sigmoid colon (N=21), or rectum (N=11). Most of the polyps presented as a pedunculated lesion (N=40), followed by semipedunculated (N=9) and sessile (N=2) morphologies. The mean size of a solitary PJP was 15.6 mm (range: 5 to 33 mm). During a mean endoscopic follow-up period of 4.5 years (range: 0.1 to 16.1 years), no recurrence was identified. Eighteen of the enrolled patients had a history of cancer or concomitant cancer. Five patients died due to non-gastrointestinal-related causes. No additional cancer or death directly related to solitary PJP was observed. Conclusions. Solitary PJPs did not recur in this study. Although examination of the entire gastrointestinal tract using esophagogastroduodenoscopy, enteroscopy, and colonoscopy is desirable to exclude Peutz-Jeghers syndrome, follow-up endoscopy after endoscopic polyp resection may be unnecessary, once the diagnosis of a solitary PJP is made.

scholarly journals PEUTZ-JEGHERS SYNDROME IN RESOURCE-LIMITED SCENARIO

2020 ◽  
Vol 57 (3) ◽  
pp. 227-231 ◽  
Author(s):  
Natascha Silva SANDY ◽  
Elizete Aparecida LOMAZI ◽  
Maria de Fátima SERVIDONI ◽  
Maria Angela BELLOMO-BRANDÃO
Keyword(s):  
Family History ◽  
Wide Spectrum ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Resource Limited ◽  
Mucocutaneous Pigmentation ◽  
Age Of Diagnosis ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome

ABSTRACT BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found. OBJECTIVE: To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources. METHODS: We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications. RESULTS: Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series. CONCLUSION: In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.

scholarly journals A Thirty-Seven-Year Follow-Up of Peutz–Jeghers Syndrome across Three Generations / Tridesetsedmogodišnje praćenje Pojc-Jegersovog sindroma kroz tri generacije

2015 ◽  
Vol 32 (3) ◽  
pp. 221-226 ◽  
Author(s):  
Marijola Mojsilović ◽  
Vuka Katić ◽  
Ivan Ilić ◽  
Biljana Radovanović ◽  
Bratislav Petrović ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Clinical Symptoms ◽  
Genetic Disorder ◽  
Tubular Adenoma ◽  
Cell Hyperplasia ◽  
Three Generations ◽  
Increased Risk ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

Abstract Peutz-Jeghers syndrome (PJS) is a rare genetic disorder with autosomal-dominant pleiotropic inheritance, variable penetrance and characteristic signs of the disease that predisposes persons to increased risk of developing cancer, particularly in the gastrointestinal tract and the breast. Due to genetic nature of disease, in the familial Peutz-Jeghers syndrome, a multiplication of symptoms in the three-generation family members was established. This paper represents an insight into the anamnesis of PJS in one family over thirty-seven years of follow-up, and is part of the broader study of this disorder. Article presents family history, clinical and histological findings and multiplication of symptoms of PJS across three generations. Over thirty-seven years, PJS has been present in this family in the form of only mucocutaneous pigmentation but without clinically manifested signs (father), or with both melanine hyperpigmentation and gastrointestinal hamartomatous polyposis (his daughter and her son). The symptoms rose suspicion of the existence of PJS complication, i.e. carcinoid-like syndrome with watery diarrheas accompanied by constipations in the affected mother and son who were surgically treated. Diagnosis of PJS was histopathologically confirmed in both cases: the presence of the polyps with hamartomatous pattern and conspicuous hyperplasia of chromogranin-positive (EC and L cells) and serotoninpositive (EC) cells. Malignant transformation of PJ- removed polyps was not found. Besides hamartoma, polyps as well as a tubular adenoma were found, with a low degree dysplasia without malignant transformation (son). The authors discuss the findings in relation to the important role of the gastrointestinal endocrine cell hyperplasia, not only for better understanding of the growth and clinical symptoms of the PJ polyposis, but also for new approach and the possible application of anti-hormonal therapy in the treatment of these patients in the future, that is not currently in use.

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.

Ab interno 180-degree trabeculectomy with a dual blade in a patient with refractory primary congenital glaucoma

2021 ◽  
pp. 112067212110104
Author(s):  
Mehmet Talay Koylu ◽  
Fatih Mehmet Mutlu ◽  
Alper Can Yilmaz
Keyword(s):  
Intraocular Pressure ◽  
Female Patient ◽  
Congenital Glaucoma ◽  
Safe Procedure ◽  
Primary Congenital Glaucoma ◽  
History Of ◽  
Kahook Dual Blade ◽  
The Right ◽  
Ab Interno

A 13-year-old female patient with refractory primary congenital glaucoma (PCG) in the right eye who had a history of multiple glaucoma operations underwent ab interno 180-degree trabeculectomy with the Kahook Dual Blade (KDB) targeting the nasal and inferior angles. On postoperative day 1, the intraocular pressure (IOP) of the right eye reduced from 43 to 15 mmHg while on medical therapy. The patient maintained this IOP level throughout the 6-month follow-up. Ab interno KDB trabeculectomy targeting both nasal and inferior angles may be an effective and safe procedure for the treatment of PCG even in eyes with a history of previously failed glaucoma procedures.

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

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.

scholarly journals Therapeutic Management of a Substantial Pelvic Aneurysmatic Bone Cyst Including the Off-Label Use of Denosumab in a 35-Year-Old Female Patient

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
D. Ntalos ◽  
M. Priemel ◽  
C. Schlickewei ◽  
D. M. Thiesen ◽  
J. M. Rueger ◽  
...  
Keyword(s):  
Monoclonal Antibody ◽  
Female Patient ◽  
Therapeutic Agent ◽  
Surgical Intervention ◽  
Case Reports ◽  
Bone Cyst ◽  
Off Label Use ◽  
Aneurysmal Bone Cysts ◽  
Promising Therapeutic Agent

Aneurysmal bone cysts (ABC) are benign bone tumors, which are highly vascularized. The main course of treatment is curettage followed by bone grafting or cement insertion. Still recurrence remains a main problem for patients. Denosumab is a monoclonal antibody, which acts as an inhibitor of the RANK/RANKL pathway, diminishing bone turnover. Recent case reports have shown that Denosumab can be a promising therapeutic agent for people suffering from therapy-resistant ABC. We report the case of a 35-year-old female patient presenting with a pronounced ABC of the pelvis. Since the tumor was inoperable, Denosumab was administered, leading to a significant shrinkage of the lesion, which allowed surgical intervention. Upon recurrence, Denosumab was restarted putting the patient once more into remission. Follow-up was four years overall with a clinical and radiological stable disease for fifteen months after final discontinuation of the monoclonal antibody. Therefore, our case further underlines the potential of Denosumab in the treatment of ABC.

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