Endometriose cutânea Cutaneous endometriosis

A endometriose é definida como a presença de glândulas endometriais e estroma fora da cavidade uterina. Essa doença, comum nas mulheres, é geralmente observada durante os anos reprodutivos. Embora a pelve seja o sítio mais comum da endometriose em mulheres, a localização extrapélvica é menos frequente e ainda mais difícil de diagnosticar, em decorrência das apresentações distintas. Neste artigo é descrito um caso de endometriose de cicatriz da parede abdominal.Endometriosis is defined as the presence of endometrial glands and stroma outside the uterine cavity. This disease is commonly observed in women, particularly those of reproductive age. The pelvis is the most common location for endometriosis. On the other hand, extrapelvic endometriosis, which is less common, is more difficult to diagnose because of the extreme differences in its presentation. In this article, we describe our experience of a case of endometriosis in an abdominal wall scar

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease