A 15-year-old male with Peutz-Jeghers syndrome: a rare case report from Syria.

Introduction and importance: In addition to extra gastrointestinal hamartomatous polyps, Peutz-Jeghers syndrome (PJS), a rare but well-known hereditary disorder, generates mucocutaneous lesions that resemble certain coloured freckles and gastrointestinal symptoms. Intussusception or polyps blocking the gastrointestinal lumen are examples of PJS consequences. Additionally, the polyps may cause ongoing bleeding that causes anaemia. Case presentation: A 15-year-old male patient with generalized stomach discomfort, frequent vomiting, and decreased appetite reported to the hospital's ambulance department. A month and a half prior, the patient underwent a surgical laparotomy for intussusception. The clinical examination revealed many pigmentations near the mouth. The specialists decided to do an urgent laparotomy on the patient, during which a 60 mm necrotic intestinal intussusception was observed. The patient had an ileoileostomy and an amputation, and a pathology test discovered numerous benign hamartomatous polyps in the sample."Putz-Jeghers Syndrome" had been determined to be the ultimate diagnosis. Clinical discussion: It is autosomal dominant and more prevalent in children and teenagers. According to some research, 30% of diseases are passed from parents to children while 70% may result from gene mutations. Conclusion: There is no evidence that the transformation of hamartomatous polyps led to the neoplastic tumours in these patients. It is suggested to carry out a complete screening program and detect PJS early in order to prevent gastrointestinal problems and dangerous malignancies.

Light history modulates growth and photosynthetic responses of a diatom to ocean acidification and UV radiation.

To examine the synergetic effects of ocean acidification (OA) and light intensity on the photosynthetic performance of marine diatoms, the marine centric diatom Thalassiosira weissflogii was cultured under ambient low CO2 (LC, 390 µatm) and elevated high CO2 (HC, 1000 µatm) levels under low-light (LL, 60 µmol m-2 s-1) or high-light (HL, 220 µmol m-2 s-1) conditions for over 20 generations. HL stimulated the growth rate by 128 and 99% but decreased cell size by 9 and 7% under LC and HC conditions, respectively. However, HC did not change the growth rate under LL but decreased it by 9% under HL. LL combined with HC decreased both maximum quantum yield (F V/F M) and effective quantum yield (Φ PSII), measured under either low or high actinic light. When exposed to UV radiation (UVR), LL-grown cells were more prone to UVA exposure, with higher UVA and UVR inducing inhibition of Φ PSII compared with HL-grown cells. Light use efficiency (α) and maximum relative electron transport rate (rETRmax) were inhibited more in the HC-grown cells when UVR (UVA and UVB) was present, particularly under LL. Our results indicate that the growth light history influences the cell growth and photosynthetic responses to OA and UVR. Supplementary Information: The online version contains supplementary material available at 10.1007/s42995-022-00138-x.

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in the remaining part of patients limited. Reports of STK11 mosaicism are rare but may be an explanation in some patients without initial findings of pathogenic variants in STK11. We report two Danish patients with STK11 mosaicism detected in blood when using Next-Generation Sequencing. This is only the sixth and seventh patient reported in the literature, and we compare phenotypes of the reported cases. The results indicate that STK11 mosaicism is more frequent than anticipated and highlight that mosaicism should be considered in patients with clinical suspicion of PJS or patients fulfilling the diagnostic criteria.

Analysis of lip pigmentations by reflectance confocal microscopy: report of two cases.

Oral mucosa pigmentations belong to a heterogeneous variety of lesions, which are usually divided into two groups: exogenous or endogenous pigmentations. The pigmented lesions most frequently found in the oral mucosa are the amalgam tattoo, the melanotic macula and the nevus. All these lesions may affect every part of the oral mucosa, and they may represent a hard diagnostic challenge for the clinician; the clinical objective examination is not sufficient to make a correct diagnosis. Reflectance Confocal Microscopy provides a real-time microscopic evaluation of tissue layers, and is widely considered a useful auxiliary tool in monitoring skin and mucosa lesions. In this context, Reflectance Confocal Microscopy imaging is a valid aid in the management of oral mucosa pigmented lesions, to corroborate and support the diagnostic process.

Síndromes em Odontologia - revisão de literatura / Syndromes in Dentistry - literature review

Objetivo: o presente trabalho teve por objetivos descrever as principais síndromes de acometimento bucal primário, relatando seus sinais, sintomas, métodos de diagnóstico e tratamento e ressaltar a importância do cirurgião-dentista no diagnóstico de alterações sistêmicas. Métodos: foi realizada uma pesquisa bibliográfica acerca de cinco síndromes de acometimento bucal primário, para isso, realizou-se uma busca de informações nas bases de dados eletrônicas Scielo, Bireme, Pubmed entre 2000 a 2017. Revisão de Literatura: Entende-se por "síndrome" um conjunto de sinais e sintomas que caracterizam determinada enfermidade, essas, podem ocorrer de forma isolada ou manifestar seus primeiros sintomas na cavidade oral, os quais são indícios de alterações sistêmicas que possam estar ocorrendo. Entre tantas, destacam-se a seguir cinco das principais síndromes de acometimento bucal primário: Síndrome de Behçet, Síndrome de Sjögren, Síndrome de Peutz-Jeghers, Doença de Addison, e Síndrome de Gardner. Considerações finais: a partir da revisão de literatura foi possível notar que as síndromes podem ocorrer de forma isolada ou manifestar seus primeiros sintomas na cavidade oral. Como suas primeiras manifestações são orais, é imprescindível que o cirurgião-dentista tenha conhecimento sobre elas para que seja elaborado um diagnóstico e protocolo de tratamento corretos e de rápida execução, já que sua terapia será executada com auxílio de vários profissionais da área da saúde.

Objective: the objective of this study was to describe the main syndromes of primary oral affection, reporting its signs, symptoms, methods of diagnosis and treatment, and to emphasize the importance of the dental surgeon in the diagnosis of systemic alterations. Methods: we carried out a literature search about five syndromes of primary oral affection. For this, a search of information was made in the electronic databases Scielo, Bireme, Pubmed between 2000 and 2017. Literature Review: "Syndrome" is understood as a set of signs and symptoms that characterize a particular disease; these can occur in isolation or manifest their first symptoms in the oral cavity, which are indications of systemic changes that may be occurring. Among so many, five of the main syndromes of primary buccal involvement are: Behçet's Syndrome, Sjögren's Syndrome, Peutz-Jeghers Syndrome, Addison's Disease, and Gardner's Syndrome. Final considerations: from the literature review it was possible to note that the syndromes may occur in isolation or manifest their first symptoms in the oral cavity. Since the first manifestations are oral, it is essential that the dentist know about them so that a correct diagnosis and protocol of treatment is elaborated and fast execution, since its therapy will be executed with the help of several professionals of the health area.

Síndrome de Peutz-Jeghers: novos dados e bases moleculares sobre uma doença rara / The Peutz-Jeghers syndrome: new data and molecular bases on a rare disease

A síndrome de Peutz-Jeghers é uma associação de polipose no trato gastrointestinal do tipo familiar e pigmentação melânica mucocutânea, particularmente nos lábios, mucosa bucal e polpa digital. Há poucas décadas, algumas centenas de casos haviam sido descritos na literatura, o que torna a doença não tão rara. O objetivo deste trabalho foi relatar casos clínicos em que os pacientes eram portadores da síndrome. Em um dos casos, tia e sobrinha evidenciaram a implicação genética da doença. Dados clínicos, bases moleculares e resultados histopatológicos, com a utilização de anticorpos (Ac) monoclonais, mostram a relevância do trabalho. Portadores crônicos da síndrome após décadas, ainda não diagnosticados, procuram o cirurgião-dentista para tratamentos diversos, dando-lhe oportunidade e responsabilidade na detecção da doença, devido ao risco de desenvolvimento de tumores malignos no trato gastrointestinal.

The Peutz-Jeghers syndrome is a familiar association of polyposis in the gastrointestinal tract and melanic mucocutaneous pigmentation, particularly in the lips, oral mucosa and fi ngertips. A few decades few hundred cases had been described in the literature wich makes the disease not so rare. The objective of this study is to report clinical cases where patients were carriers of the syndrome. In one of the cases the aunt and nice showed the genetic implication of the disease. Clinical data, molecular basis and histopathological results with monoclonal antibodies (Ac), show the relevance of this work. Chronic carriers of the syndrome after decades, still undiagnosed, seek the dentist for various treatments giving him the opportunity and responsibility to detect the disease due to the risk of development of malignant tumors in the gastrointestinal tract.

Disease pattern in Danish patients with Peutz-Jeghers syndrome.

PURPOSE: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11. METHODS: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from relevant departments at Danish hospitals, we identified patients and collected clinical and genetic information. RESULTS: We identified 43 patients of which 14 were deceased. The prevalence was estimated to be ∼1 in 195,000 individuals. The median age at first symptom was 27.5 with invagination of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients. CONCLUSION: This is the first comprehensive study of patients with Peutz-Jeghers syndrome in the Danish population identified from nationwide registers and databases. We have demonstrated that the expressivity of Peutz-Jeghers syndrome varies greatly among the patients, even within the same families, underlining the great phenotypic spectrum. Patients with PJS should be offered surveillance from childhood in order to prevent morbidity and reduce mortality.

Peutz-Jeghers syndrome without mucocutaneous pigmentation: a case report.

Peutz-Jeghers syndrome is a rare condition characterized by mucocutaneous pigmentation, polyposis and an increased cancer risk at a number of gastrointestinal and extra intestinal organs. We present a patient with a history of gastrointestinal bleeding with no mucocutaneous pigmentation. Upper and lower gastrointestinal endoscopy revealed multiple polyps located in the deuodenum and colon. Histopathological evaluation of the polyps revealed hamartomatous polyps of Peutz-Jeghers syndrome.