{"id":66,"date":"2021-11-27T15:25:45","date_gmt":"2021-11-27T14:25:45","guid":{"rendered":"https:\/\/cerenef.org\/?page_id=66"},"modified":"2025-01-29T18:01:47","modified_gmt":"2025-01-29T17:01:47","slug":"comprendre-les-neurofibromatoses","status":"publish","type":"post","link":"https:\/\/cerenef.org\/en\/comprendre-les-neurofibromatoses\/","title":{"rendered":"Understand neurofibromatosis"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"66\" class=\"elementor elementor-66\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-2eec3be elementor-section-boxed elementor-section-height-default elementor-section-height-default elementor-invisible\" data-id=\"2eec3be\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;animation&quot;:&quot;fadeInLeft&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-f86d496\" data-id=\"f86d496\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-c322ab7 elementor-widget elementor-widget-image\" data-id=\"c322ab7\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/cerenef.org\/wp-content\/uploads\/2022\/01\/comprendre-les-neurofibromatoses.svg\" title=\"CERENEF\" alt=\"CERENEF\" loading=\"lazy\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-49e6b9e8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"49e6b9e8\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-2c86afbd\" data-id=\"2c86afbd\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1c5345b8 elementor-widget elementor-widget-text-editor\" data-id=\"1c5345b8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Neurofibromatosisis a set of genetic diseases, an artificial grouping of diseases with different manifestations, epidemiology, and genetics. Both neurofibromatosis type 1 and type 2 are linked to mutations in tumour suppressor genes. Schwannomatosis is still currently being explored for the identification of predisposing genes. The transmission of neurofibromatosis occurs in an autosomal dominant manner, meaning that an affected parent transmits the disease to his or her offspring at a rate of one in two. This is the so-called \"familial form\" of neurofibromatosis. However, a large proportion of patients have no affected parents (50%). In that case, this is referred as a \"sporadic case\".<\/p><p>The group of neurofibromatosis includes the following diseases:<\/p><ul><li>Neurofibromatosis type 1 (NF1), including its mosaic or segmental forms.<\/li><li>Schwannomatoses, including NF2, SMARCB1 and LZTR1 gene-linked forms and their mosaic or segmental forms.<\/li><\/ul><p>All three diseases are characterised by the presence of benign tumours of the nerve sheaths. Legius syndrome is also commonly associated to this group, since it is the main differential diagnosis of neurofibromatosis type 1.<\/p><p>Therefore, one can consider that these four pathologies are grouped together for historical reasons. Their different genetic mechanisms tend to empower them. In the same way, the management of affected patients depends on the exact diagnosis of their neurofibromatosis, which will be the first step in the personalised care plan<\/p><p>In this website, we focus on these four pathologies and share the list of centres dedicated to their management and treatment. We also include a didactic chapter dedicated to genetics, written by the team of the medical genetics department of the coordinating site of the referralcentre, the Henri-Mondor Hospital, APHP, UPEC, Cr\u00e9teil.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Les neurofibromatoses sont un ensemble de maladies g\u00e9n\u00e9tiques, il s\u2019agit d\u2019un groupement artificiel de maladies \u00e0 manifestations, \u00e9pid\u00e9miologie et g\u00e9n\u00e9tique diff\u00e9rentes. La neurofibromatose de type 1 et le groupe des schwannomatoses sont li\u00e9es \u00e0 des mutations dans des g\u00e8nes suppresseurs de tumeurs. La schwannomatose fait encore actuellement l\u2019objet d\u2019explorations pour mise en \u00e9vidence de g\u00e8nes&hellip;&nbsp;<\/p>\n<div class=\"read-more-wrapper\"><a href=\"https:\/\/cerenef.org\/en\/comprendre-les-neurofibromatoses\/\" class=\"button button-secondary\" rel=\"bookmark\">\u279c Read more<span class=\"screen-reader-text\">Understand neurofibromatosis<\/span><\/a><\/div>","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","neve_meta_reading_time":"","footnotes":""},"categories":[17],"tags":[],"class_list":["post-66","post","type-post","status-publish","format-standard","hentry","category-les-neurofibromatoses"],"_links":{"self":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/66","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/comments?post=66"}],"version-history":[{"count":6,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/66\/revisions"}],"predecessor-version":[{"id":3903,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/66\/revisions\/3903"}],"wp:attachment":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/media?parent=66"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/categories?post=66"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/tags?post=66"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}