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.

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 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 Unilateral Usual Ductal Hyperplasia in A 22 Years Old Male Patient: A Case Report

2019 ◽  
Vol 3 (2) ◽  
pp. 41
Author(s):  
Kelvin Setiawan ◽  
Bramastha Aires Rosadi ◽  
Terry Renata Lawanto ◽  
Primariadewi Rustamadji
Keyword(s):  
Physical Examination ◽  
Left Breast ◽  
Cell Hyperplasia ◽  
Tumor Biopsy ◽  
Palpable Mass ◽  
Usual Ductal Hyperplasia ◽  
Areola Complex ◽  
Increased Risk ◽  
Ductal Hyperplasia

Background: Benign breast disease have been broadly classified into non-proliferative lesions, proliferative lesions without atypia and hyperplasia with atypia. Proliferative disease, such as usual ductal hyperplasia, is associated with a 1.5 to 2 fold increased risk of developing invasive carcinoma. We reported a case of usual ductal hyperplasia in a young male. Case: A 22-year-old male complained of discomfort and enlargement of unilateral breast. Physical examination at that time revealed a palpable mass in the lateral upper quadrant of the patient’s left breast, three centimeters from nipple areola complex. The examination of axilla didn’t reveal any lymph node enlargement on both sides. His vital signs were normal without any abnormalities found on examination. Ultrasonography examination demonstrated fibroglandular tissue in the left breast with the volume of 11.13 cm3, consist of 4.8 cm length, 2.9 cm width and 0.8 cm depth. Excisional tumor biopsy was done on his left breast. Usual duct cell hyperplasia was present in microscopic examination with chronic inflammatory cells spreading around the fibrotic stromal cell. Physical examination, radiologic examination, and biopsy were all performed in this patient. Although the accuracy of the triple test is high, benign concordant results do not obviate further surveillance of a palpable mass. We advised our patient to routinely follow-up his condition every 6 months for 1 to 2 years, especially if there any changes found on his breasts. Conclusion: Any guidelines and further studies regarding patient’s follow-up examination after biopsy for male breasts tumor are needed in order of better understanding about this disease.

scholarly journals Chronic kidney disease and undiagnosed atrial fibrillation in individuals with diabetes

2020 ◽  
Vol 19 (1) ◽  
Author(s):  
Nam Ju Heo ◽  
Sang Youl Rhee ◽  
Jill Waalen ◽  
Steven Steinhubl
Keyword(s):  
Atrial Fibrillation ◽  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Clinical Symptoms ◽  
Screening Program ◽  
Renal Involvement ◽  
Newly Diagnosed ◽  
Mortality And Morbidity ◽  
Increased Risk

Abstract Background Diabetes is an independent risk factor for atrial fibrillation (AF), which is associated with increases in mortality and morbidity, as well as a diminished quality of life. Renal involvement in diabetes is common, and since chronic kidney disease (CKD) shares several of the same putative mechanisms as AF, it may contribute to its increased risk in individuals with diabetes. The objective of this study is to identify the relationship between CKD and the rates of newly-diagnosed AF in individuals with diabetes taking part in a screening program using a self-applied wearable electrocardiogram (ECG) patch. Materials and methods The study included 608 individuals with a diagnosis of diabetes among 1738 total actively monitored participants in the prospective mHealth Screening to Prevent Strokes (mSToPS) trial. Participants, without a prior diagnosis of AF, wore an ECG patch for 2 weeks, twice, over a 4-months period and followed clinically through claims data for 1 year. Definitions of CKD included ICD-9 or ICD-10 chronic renal failure diagnostic codes, and the Health Profile Database algorithm. Individuals requiring dialysis were excluded from trial enrollment. Results Ninety-six (15.8%) of study participants with diabetes also had a diagnosis of CKD. Over 12 months of follow-up, 19 new cases of AF were detected among the 608 participants. AF was newly diagnosed in 7.3% of participants with CKD and 2.3% in those without (P < 0.05) over 12 months of follow-up. In a univariate Cox proportional hazard regression analysis, the risk of incident AF was 3 times higher in individuals with CKD relative to those without CKD: hazard ratios (HR) 3.106 (95% CI 1.2–7.9). After adjusting for the effect of age, sex, and hypertension, the risk of incident AF was still significantly higher in those with CKD: HR 2.886 (95% CI 1.1–7.5). Conclusion Among individuals with diabetes, CKD significantly increases the risk of incident AF. Identification of AF prior to clinical symptoms through active ECG screening could help to improve the clinical outcomes in individuals with CKD and diabetes.

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 Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Robert C. Bell ◽  
Evan T. Austin ◽  
Stacy J. Arnold ◽  
Frank C. Lin ◽  
Jonathan R. Walker ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Renal Cell ◽  
Cell Cancer ◽  
Surgical Excision ◽  
High Rate ◽  
Case Presentation ◽  
Increased Risk ◽  
The Right ◽  
Cutaneous Leiomyomas

Background. Genital leiomyomas fall under the broader category of cutaneous leiomyomas, which are rare smooth muscle neoplasms accounting for 5% of all leiomyomas. Genital leiomyomas arising from the dartos muscle are exceedingly rare with fewer than 30 cases reported in the literature. They are typically benign and adequately treated with simple surgical excision; however, previously reported cases of malignant transformation and a possible link to the hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome warrant closer follow-up.Case Presentation. We report a case of a 47-year-old male refugee from Rwanda found to have a mobile, pea-sized, mildly painful scrotal lesion near the left penoscrotal junction and 1.5 cm indeterminate vascular mass in the right kidney. Surgical excision of the scrotal nodule was performed and the diagnosis of a dartoic leiomyoma was rendered. The presence of moderate nuclear atypia, rare mitotic activity, and close surgical margins prompted a wide reexcision. We report the surgical approach, pathologic findings, and clinical follow-up related to this scrotal lesion.Conclusion. Scrotal leiomyomas demonstrate a high rate of recurrence and pose a risk for malignant transformation. They may also indicate an underlying autosomal dominant syndrome associated with increased risk for development of an aggressive form of renal cell carcinoma. When discovered, management should include surgical excision, screening for syndromic features, and routine follow-up.

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 Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 812
Author(s):  
Virginie M.M. Buhler ◽  
Lieselotte Berger ◽  
André Schaller ◽  
Martin S. Zinkernagel ◽  
Sebastian Wolf ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Fundus Autofluorescence ◽  
Molecular Diagnostic ◽  
Stargardt Disease ◽  
Vitamin A Supplementation ◽  
Clinical Phenotypes ◽  
Number Of Patients ◽  
Increased Risk ◽  
Swiss Population

We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T>C and c.4496T>C being novel. The dominantly inherited pathogenic ELOVL4 c.810C>G p.(Tyr270*) and PRPH2-c.422A>G p.(Tyr141Cys) variants were identified in eight (36%) and three patients (14%), respectively. All patients harboring the ELOVL4 c.810C>G p.(Tyr270*) variant originated from the same small Swiss area, identifying a founder mutation. In the ABCA4 and ELOVL4 cohorts, the clinical phenotypes of “flecks”, “atrophy”, and “bull”s eye like” were observed by fundus examination. In the small number of patients harboring the pathogenic PRPH2 variant, we could observe both “flecks” and “atrophy” clinical phenotypes. The onset of disease, progression of visual acuity and clinical symptoms, inheritance patterns, fundus autofluorescence, and optical coherence tomography did not allow discrimination between the genetically heterogeneous Stargardt patients. The genetic heterogeneity observed in the relatively small Swiss population should prompt systematic genetic testing of clinically diagnosed Stargardt patients. The resulting molecular diagnostic is required to prevent potentially harmful vitamin A supplementation, to provide genetic counseling with respect to inheritance, and to schedule appropriate follow-up visits in the presence of increased risk of choroidal neovascularization.

scholarly journals Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Milla Huuhka ◽  
Aaro Turunen
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Bone Marrow Failure ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Skin Lesions ◽  
Increased Risk

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). FA patients may also display a low tolerance to oncologic treatments. The authors present a case of mandibular squamous cell carcinoma in a young FA patient. Because of the aggressive nature of the SCC and complex treatment options, we recommend a strict lifelong follow-up for all FA patients to detect early changes in the oral mucosa.

scholarly journals Peutz-Jegher’s Syndrome – A Case Report / Peutz-Jegher’s sindrom - prikaz slučaja

2012 ◽  
Vol 4 (2) ◽  
pp. 77-80
Author(s):  
Isidora Sbutega ◽  
Svetlana Popadić ◽  
Petar Ivanovski ◽  
Biljana Arsov ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Family History ◽  
Buccal Mucosa ◽  
Gastrointestinal Carcinoma ◽  
Hamartomatous Polyps ◽  
Negative Family History ◽  
Increased Risk ◽  
Mucocutaneous Pigmentation ◽  
Risk Of Malignancy

Abstract Peutz-Jegher’s syndrome is a hereditary disorder characterized by melanocytic macules on the lips and buccal mucosa and multiple gastrointestinal hamartomatous polyps. It is caused by a mutation localized on chromosome 19p13.3. Skin and mucosal pigmentation may be present at birth and usually occur in early childhood, but occasionally may develop later. It is associated with an increased risk of malignancy for gastrointestinal carcinoma and also for breast, ovarian, testiscular, pancreatic and gallbladder cancer. We report a 12-year-old girl who presented with disseminated petty yellowish macules on the bridge of her nose, numerous brown to bluish black macules on her lips and buccal mucosa. Mucocutaneous pigmentation has been present from the age of five, with a negative family history. In our patient, esophageal endoscopy was normal, while the endoscopy of stomach and duodenum revealed multiple diminutive polyps. After clinical evaluation, there were no indications for therapy. Further follow up was suggested. Continuous surveillance is very important for patients with Peutz-Jegher’s syndrome in order to reduce risks of cancer and prevent other morbidity and mortality.

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