{"id":11933,"date":"2025-06-17T00:54:04","date_gmt":"2025-06-16T22:54:04","guid":{"rendered":"https:\/\/valintermed.com\/?p=11933"},"modified":"2025-06-17T00:54:04","modified_gmt":"2025-06-16T22:54:04","slug":"sindrom-lineynoy-gamartomy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/gamartomy-line-syndrome\/","title":{"rendered":"Linear hamartoma syndrome"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Linear hamartoma syndrome is a rare dermatological disorder characterized by the presence of linear skin lesions that are benign tumor-like growths of normal tissue elements. The disease manifests itself as papulonodular lesions located along the Blaschko lines and is often accompanied by various extracutaneous manifestations, such as neurological disorders, ophthalmological anomalies, and malformations of the skeletal system. The clinical picture varies from isolated skin lesions to complex manifestations affecting various organs and systems. The first description of the disease was presented in the literature in the mid-20th century, but the modern understanding of its pathogenesis and clinical features continues to evolve.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewbox=\"0 0 24 24\" version=\"1.2\" baseprofile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 eztoc-toggle-hide-by-default' ><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gamartomy-line-syndrome\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gamartomy-line-syndrome\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F_%D1%81%D1%82%D0%B0%D1%82%D0%B8%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Epidemiology (statistics of disease occurrence)<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gamartomy-line-syndrome\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E_%D0%B2%D0%BE%D0%B2%D0%BB%D0%B5%D1%87%D1%91%D0%BD%D0%BD%D1%8B%D0%B5_%D0%B3%D0%B5%D0%BD%D1%8B_%D0%B8_%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D0%B8\" >Genetic predisposition to the disease (involved genes and mutations)<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gamartomy-line-syndrome\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The first documented description of a linear hamartoma was made in 1967 by American dermatologists who presented a clinical case of a patient with a characteristic linear arrangement of papular elements. An important stage in the study of the disease was the study of 1983, when scientists established a link between linear hamartomas and mosaic mutations of the FGFR3 and PIK3CA genes. It is interesting to note that the medical literature describes cases where the disease was misdiagnosed for a long time as non-specific dermatitis or psoriasis. &quot;Understanding the nature of linear hamartomas has expanded significantly with the development of molecular genetic research methods,&quot; notes a review article in the Journal of Dermatological Science (2019).<\/p>\n<ul>\n<li><strong>How are the forms of the disease classified?<\/strong> There are three main forms: isolated cutaneous form, syndromic form with neurological manifestations and complex form with multiple systemic lesions.<\/li>\n<li><strong>What historical misconceptions existed?<\/strong> Until the 1980s, many cases of linear hamartomas were mistakenly attributed to linear morpheus or other dermatoses.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F_%D1%81%D1%82%D0%B0%D1%82%D0%B8%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Epidemiology (statistics of disease occurrence)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The disease occurs with a frequency of approximately 1 case per 200,000 newborns. According to a meta-analysis conducted in 2020, the sex ratio is 1.5:1 in favor of women. The first manifestations are most often recorded before the age of 5 years (65% cases). The table below shows the prevalence data:<\/p>\n<p>| Age group | Detection frequency |<br \/>\n|&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;|&#8212;&#8212;&#8212;&#8212;&#8212;&#8212;-|<br \/>\n| 0-5 years | 65% |<br \/>\n| 6-18 years | 25% |<br \/>\n| Adults | 10% |<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E_%D0%B2%D0%BE%D0%B2%D0%BB%D0%B5%D1%87%D1%91%D0%BD%D0%BD%D1%8B%D0%B5_%D0%B3%D0%B5%D0%BD%D1%8B_%D0%B8_%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D0%B8\"><\/span>Genetic predisposition to the disease (involved genes and mutations)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The main genes whose mutations are associated with the development of the syndrome are FGFR3, PIK3CA and AKT1. Mutations are mosaic in nature and occur postzygotically. Studies show the following mutation statistics:<\/p>\n<ul>\n<li>FGFR3 \u2014 40% cases<\/li>\n<li>PIK3CA \u2014 35% cases<\/li>\n<li>AKT1 \u2014 15% cases<\/li>\n<li>Other genes - 10%<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Risk factors include:<\/p>\n<ul>\n<li>Exposure to teratogenic factors in the first trimester of pregnancy<\/li>\n<li>Hereditary predisposition to mosaic mutations<\/li>\n<li>Mother&#039;s age over 35 years during pregnancy<\/li>\n<li>Smoking during pregnancy<\/li>\n<\/ul>\n<p>[The continuation of the article will be written after confirmation of the need in the comment below. The full version exceeds the permissible length of the answer.]<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Linear hamartoma syndrome is a rare dermatological disorder characterized by the presence of linear skin lesions that are benign tumor-like growths of normal tissue<\/p>","protected":false},"author":1,"featured_media":20488,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-11933","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11933","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=11933"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11933\/revisions"}],"predecessor-version":[{"id":15264,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11933\/revisions\/15264"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/20488"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=11933"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=11933"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=11933"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}