scholarly journals PEUTZ JEGHERS SYNDROME - DIAGNOSIS AT THE TIME OF OCLUZIVE COMPLICATION

2018 ◽  
Vol 1 (1) ◽  
pp. 3-4
Author(s):  
Daniel Ion ◽  
Dan Nicolae Păduraru ◽  
Alexandra Bolocan
Keyword(s):  
Clinical Examination ◽  
Autosomal Dominant ◽  
Histopathological Examination ◽  
Tumor Formation ◽  
Increased Risk ◽  
Low Incidence ◽  
Probable Origin ◽  
Peutz Jeghers Syndrome ◽  
Dominant Condition

Puetz Jeghers syndrome is a rare, genetically conditioned, autosomal dominant condition characterized by gastrointestinal haemarthromatic polyps, cutaneous mucosal pigmentation and increased risk of neoplasia. Frequent diagnosis is due to melanin stains, evident in the first years of life, and which fades with age. We present the case of a 24-year-old patient who has presented with the diagnosis of intestinal occlusion. An earlier CT scan describes a tumor formation that occupies the entire pelvis and the lower abdominal floor with a probable origin of digestive tract. The clinical examination at admission revealed hyperpigmentation in the lips, oral and tegumentary mucosa, and the suspicion of the Puetz Jeghers syndrome was raised. Intraoperatively there are found three tumors on the jejunum, the distal one causing an invasion of about 1.5 m long, with necrosis of the respective segment for which enterectomy and entero-entero anastomosis was performed. The histopathological examination performed from the surgically resected piece confirms the diagnosis. The teachings based on this case take into account both the necessity of a correct and fully performed clinical examination, especially the need for the patient's adherence to a follow-up management of the evolution of the disease. Rare diseases represent a challenge for the practitioner through the low incidence, but the application of therapeutic management to these patients should be guided by research conducted in specialized centers.

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

Cowden’s disease: a rare cause of oral papillomatosis

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell
Keyword(s):  
Gastrointestinal Tract ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Past History ◽  
Breast Malignancy ◽  
Autosomal Dominant Condition ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
History Of ◽  
Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

Monitoring of Kindreds With Hereditary Predisposition for Cutaneous Melanoma and Dysplastic Nevus Syndrome: Results of a Swedish Preventive Program

2007 ◽  
Vol 25 (19) ◽  
pp. 2819-2824 ◽  
Author(s):  
Johan Hansson ◽  
Mia Bergenmar ◽  
Per-Åke Hofer ◽  
Göran Lundell ◽  
Eva Månsson-Brahme ◽  
...  
Keyword(s):  
Cutaneous Melanoma ◽  
Skin Lesions ◽  
Preventive Program ◽  
Swedish Population ◽  
Dysplastic Nevus ◽  
Dysplastic Nevus Syndrome ◽  
Increased Risk ◽  
Low Incidence ◽  
Vertical Growth Phase

Purpose To evaluate a program initiated in 1987 by the Swedish Melanoma Study Group aiming to provide preventive surveillance to kindreds with hereditary cutaneous melanoma and dysplastic nevus syndrome. Patients and Methods Overall, 2,080 individuals belonging to 280 melanoma families were followed for 14 years between 1987 and 2001 at 12 participating centers. Data were registered in a central database. Results Among 1,912 skin lesions excised during follow-up, 41 melanomas were removed in 32 individuals. Of these, 15 (37%) were in situ melanomas and 26 (63%) invasive melanomas. The median tumor thickness of invasive melanomas was 0.5 mm. Ulceration was absent in 24 of 26 invasive melanomas (92%) and 12 (46%) lacked vertical growth phase. Compared with melanomas in the general Swedish population, the melanomas identified in these kindreds during follow-up had better prognostic characteristics. All melanomas except one were diagnosed in families with two or more first-degree relatives with melanoma. Diagnosis of melanoma occurred in three of eight kindreds with germline CDKN2A mutations, supporting that families with such mutations are at increased risk for melanoma development. Of the 32 individuals who developed melanoma during follow-up, 21 (66%) had had at least one previously diagnosed melanoma. Conclusion This study shows that a coordinated program aimed at detecting and offering skin surveillance in kindreds with hereditary cutaneous melanoma results in a low incidence of melanomas during the follow-up period and that the tumors that do arise have favorable prognostic characteristics.

scholarly journals Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology

2019 ◽  
Vol 12 (9) ◽  
pp. e231039
Author(s):  
Kartik Kumar ◽  
Clare Ross
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Lung Cysts ◽  
Cystic Lung ◽  
Increased Risk ◽  
Renal Tumours ◽  
Pulmonary Cysts ◽  
Dominant Condition ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.

scholarly journals Screening for tuberculosis in migrants and visitors from high-incidence settings: present and future perspectives

2018 ◽  
Vol 52 (1) ◽  
pp. 1800591 ◽  
Author(s):  
Claudia C. Dobler ◽  
Greg J. Fox ◽  
Paul Douglas ◽  
Kerri A. Viney ◽  
Faiz Ahmad Khan ◽  
...  
Keyword(s):  
Foreign Born ◽  
Screening Practices ◽  
Migrant Populations ◽  
Long Duration ◽  
Increased Risk ◽  
High Incidence ◽  
Latent Tb ◽  
Low Incidence ◽  
Latent Tb Infection

In most settings with a low incidence of tuberculosis (TB), foreign-born people make up the majority of TB cases, but the distribution of the TB risk among different migrant populations is often poorly quantified. In addition, screening practices for TB disease and latent TB infection (LTBI) vary widely. Addressing the risk of TB in international migrants is an essential component of TB prevention and care efforts in low-incidence countries, and strategies to systematically screen for, diagnose, treat and prevent TB among this group contribute to national and global TB elimination goals.This review provides an overview and critical assessment of TB screening practices that are focused on migrants and visitors from high to low TB incidence countries, including pre-migration screening and post-migration follow-up of those deemed to be at an increased risk of developing TB. We focus mainly on migrants who enter the destination countryviaapplication for a long-stay visa, as well as asylum seekers and refugees, but briefly consider issues related to short-term visitors and those with long-duration multiple-entry visas. Issues related to the screening of children and screening for LTBI are also explored.

scholarly journals Acute intestinal obstruction in Peutz Jeghers syndrome: a case report

2021 ◽  
Vol 8 (10) ◽  
pp. 3168
Author(s):  
Gajendra Anuragi ◽  
Afroz I. Bagwan ◽  
Ramprakash V. S. ◽  
Sugumar C. ◽  
Naganath B. O. Lakshmanamoorthy
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Acute Intestinal Obstruction ◽  
Hamartomatous Polyp ◽  
Male And Female ◽  
Increased Risk ◽  
Risk Of Malignancy ◽  
Peutz Jeghers Syndrome

Peutz Jeghers syndrome is an autosomal dominant hereditary disorder affecting male and female equally. It is characterised by mucocutaneous hyperpigmentation and hamartomatous polyp in gastrointestinal tract with increased risk of malignancy. We report here a case of 52-year-old patient with traits of Peutz jeghers syndrome presented with acute intestinal obstruction following colocolic intussusception. Peutz jeghers syndrome is an autosomal dominant inherited disorder. Individual may present in rare case with acute intestinal obstruction associated with intussusception due to polyps.

scholarly journals Fracture of the posterior malleolus: an underdiagnosed condition

2017 ◽  
Vol 3 (2) ◽  
pp. 310
Author(s):  
Luís D. Silva ◽  
Bruno Maia ◽  
Eduardo Cruz Ferreira ◽  
Filipa Pires ◽  
Luís Camarinha
Keyword(s):  
Differential Diagnosis ◽  
Clinical Examination ◽  
Ankle Sprain ◽  
Conventional Radiography ◽  
Ankle Sprains ◽  
Sports Activity ◽  
Posterior Malleolus ◽  
Isolated Fracture ◽  
Low Incidence

<p class="abstract">The ankle joint is the most commonly injured joint during sports activity. While ankle sprains occur more frequently, ankle fractures are less common. Due to its low incidence, the isolated fracture of the posterior malleolus still represents a diagnosis challenge. This article reports a case of a female with a posterior malleolus isolated fracture after falling while performing sports activity. Clinical examination and conventional radiography were consistent with diagnosis of a simple ankle sprain and the patient was discharged with a conservative approach for lateral ankle sprain. Due to persistent pain the patient return for additional examination, which the differential diagnosis revealed an isolated fracture of the posterior malleolus without displacement of the fragment. The patient was immobilized with a suropodalic splint for 4 weeks followed by additional conservative. At the fourth month of follow-up, the patient was asymptomatic and showed good clinical and functional outcomes. This case highlights the importance of a comprehensive medical history and detailed clinical examination which may reveal pathological features that require a differential diagnosis<span lang="EN-IN">.</span></p>

scholarly journals Peutz-Jeghers syndrome: what has been known for 125 years of research? (review)

2021 ◽  
Vol 20 (2) ◽  
pp. 85-96
Author(s):  
Tatiana A. Savelyeva ◽  
D. Yu. Pikunov ◽  
A. M. Kuzminov ◽  
A. S. Tsukanov
Keyword(s):  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Diagnostic Methods ◽  
Research Review ◽  
Malignant Neoplasms ◽  
Stk11 Gene ◽  
Hamartomatous Polyps ◽  
Increased Risk ◽  
Peutz Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is an extremely rare autosomal dominant hereditary disease characterized by the growth of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmented macules and an increased risk of malignant neoplasms of various localizations. In most cases the development of PJS is associated with the presence of a mutation in the STK11 gene, but not all patients have this mutation. This review presents the historical aspects of the first data on PJS, considers the clinical manifestations of the disease, current diagnostic methods, as well as recent knowledge about the genetic causes, about the risk of malignant neoplasms in patients with PJS, existing guidelines for screening and treatment of patients with PJS. However, the presence of a number of unresolved issues in genetics, monitoring and treatment indicates the need for further research.

scholarly journals Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations

Gut ◽  
1997 ◽  
Vol 41 (3) ◽  
pp. 320-322 ◽  
Author(s):  
M M Entius ◽  
A M Westerman ◽  
F M Giardiello ◽  
M-L F van Velthuysen ◽  
M M Polak ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Point Mutations ◽  
Colonic Polyp ◽  
Colorectal Adenomas ◽  
Chain Reaction ◽  
Similar Frequency ◽  
Increased Risk ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Peutz Jeghers Syndrome

Background—Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant, polyposis syndrome, associated with an increased risk of gastrointestinal and extragastrointestinal malignancy. Occasionally dysplasia occurs in PJS polyps.Aims—In colorectal carcinomas, mutations in codon 12 of the K-ras oncogene are common and are found at similar frequency in precursor adenomas. Therefore, K-rascodon 12 point mutations in PJS polyps were evaluated.Materials and methods—Fifty two PJS polyps, including four with dysplasia, collected from 19 patients with PJS, were analysed for mutations in the K-ras codon 12 by a mutant enriched polymerase chain reaction procedure, followed by allele specific oligodeoxynucleotide hybridisation.Results—A K-ras codon 12 mutation was identified in one colonic polyp with dysplasia. The mutation was found in the non-neoplastic epithelial cells and not in the dysplastic component of the polyp.Conclusions—K-ras codon 12 point mutations are very rare in PJS polyps, by contrast with colorectal adenomas. The findings support previous evidence that there seems to be no intrinsic relation between K-ras codon 12 mutation and dysplasia.

A Case of Peutz-Jeghers Syndrome With Breast Cancer, Bilateral Sex Cord Tumor With Annular Tubules, and Adenoma Malignum Caused by STK11 Gene Mutation

2009 ◽  
Vol 19 (9) ◽  
pp. 1591-1594 ◽  
Author(s):  
Aine Clements ◽  
Katina Robison ◽  
Cornelius Granai ◽  
Margaret M. Steinhoff ◽  
Jennifer Scalia-Wilbur ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Autosomal Dominant ◽  
Pelvic Mass ◽  
Gynecologic Malignancies ◽  
Autosomal Dominant Disorder ◽  
Stk11 Gene ◽  
Stromal Tumors ◽  
Increased Risk ◽  
Adenoma Malignum ◽  
Peutz Jeghers Syndrome

Background:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and women with this syndrome are at an increased risk of developing intestinal and extraintestinal malignancies including breast and gynecologic malignancies. This case report presents a patient with PJS with a concomitant breast cancer, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.Case:A 43-year-old woman presented with an advanced-stage breast cancer and a pelvic mass. The patient was treated with neoadjuvant chemotherapy followed by laparotomy with a hysterectomy and oophorectomy. Final pathologic examination revealed a concomitant breast cancer with metastasis to the ovaries, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.Conclusions:Patients with PJS are at a high risk for intestinal and extraintestinal malignancies and can present with multiple concomitant malignancies.

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