{"id":121851,"date":"2026-01-07T17:46:21","date_gmt":"2026-01-07T08:46:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121851"},"modified":"2026-03-03T17:55:26","modified_gmt":"2026-03-03T08:55:26","slug":"junctional-epidermolysis-bullosa-herlitz-type-2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type-2\/","title":{"rendered":"\u30d8\u30eb\u30ea\u30c3\u30c4\u578b\u63a5\u5408\u578b\u8868\u76ae\u6c34\u75b1\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30d8\u30eb\u30ea\u30c3\u30c4\u578b\u63a5\u5408\u578b\u8868\u76ae\u6c34\u75b1\u75c7\u306f\u3001\u76ae\u819a\u3084\u7c98\u819c\u304c\u975e\u5e38\u306b\u3082\u308d\u304f\u3001\u308f\u305a\u304b\u306a\u523a\u6fc0\u3067\u3082**\u6c34\u75b1\uff08\u76ae\u819a\u306e\u3081\u304f\u308c\u30fb\u3073\u3089\u3093\uff09<strong>\u3092\u7e70\u308a\u8fd4\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u51fa\u751f\u6642\u301c\u65b0\u751f\u5150\u671f\u304b\u3089\u5e83\u7bc4\u56f2\u306b\u75c7\u72b6\u304c\u51fa\u3084\u3059\u304f\u3001\u9f3b\u30fb\u53e3\u306e\u5468\u56f2\u3084\u6307\u8dbe\u5148\u7aef\u306a\u3069\u306b<\/strong>\u8089\u82bd\u7d44\u7e54\uff08\u8d64\u304f\u76db\u308a\u4e0a\u304c\u308b\u75c5\u5909\uff09**\u3092\u5f62\u6210\u3057\u3084\u3059\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u5f93\u6765\u300cHerlitz\u578b\u300d\u3068\u547c\u3070\u308c\u3066\u304d\u305f\u75c5\u578b\u306f\u3001\u73fe\u5728\u306e\u5206\u985e\u3067\u306f\u6982\u306d <strong>JEB generalized severe\uff08\u91cd\u75c7\u578b\uff09<\/strong> \u306b\u76f8\u5f53\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066 <strong>LAMC2<\/strong>\uff08\u307b\u304b\u306b LAMA3\u3001LAMB3 \u306a\u3069\uff09\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001LAMC2\u306f\u8868\u76ae\u2014\u771f\u76ae\u63a5\u5408\u90e8\u306e\u63a5\u7740\u3092\u652f\u3048\u308b**\u30e9\u30df\u30cb\u30f3332\uff08laminin-332\uff09**\u306e\u69cb\u6210\u8981\u7d20\uff08\u03b32\u9396\uff09\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u63a5\u5408\u578b\u8868\u76ae\u6c34\u75b1\u75c7\uff08JEB\uff09\u5168\u4f53\u3068\u3057\u3066\u3082\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u91cd\u75c7\u578b\uff08JEB generalized severe\uff0f\u65e7Herlitz\u578b\uff09\u306f\u3055\u3089\u306b\u983b\u5ea6\u304c\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u3002GeneReviews\u3067\u306f\u3001\u91cd\u75c7\u578b\u306e<strong>\u6709\u75c5\u7387\u304c\u7d040.4\/100\u4e07\u4eba\u3001\u767a\u751f\u7387\u304c\u7d040.41\/100\u4e07\u4eba<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3001\u4e73\u5150\u671f\u306e\u6b7b\u4ea1\u7387\u304c\u9ad8\u3044\u3053\u3068\u304b\u3089\u904e\u5c0f\u5831\u544a\u306e\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/?utm_source=chatgpt.com\">NCBI<\/a>)<br>JEB\u5168\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306b\u3064\u3044\u3066\u306f\u3001\u7c73\u56fd\u306e\u652f\u63f4\u56e3\u4f53\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u304f\u5831\u544a\u3067<strong>\u5c11\u306a\u304f\u3068\u3082\u5e743.59\/100\u4e07\u4eba<\/strong>\u3068\u3055\u308c\u305f\u7814\u7a76\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23721227\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001<strong>LAMC2\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8<\/strong>\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u306e\u304c\u5178\u578b\u3067\u3001\u907a\u4f1d\u5f62\u5f0f\u306f\u4e3b\u306b<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3067\u3059\u3002LAMC2\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u30e9\u30df\u30cb\u30f3332\u304c\u5341\u5206\u306b\u50cd\u304b\u305a\u3001\u8868\u76ae\u2014\u771f\u76ae\u63a5\u5408\u90e8\u306e\u201c\u3064\u306a\u304e\u201d\u304c\u5f31\u304f\u306a\u308b\u305f\u3081\u3001\u8efd\u3044\u6469\u64e6\u3067\u3082\u76ae\u819a\u30fb\u7c98\u819c\u306b\u88c2\u3051\u76ee\u304c\u751f\u3058\u3001\u6c34\u75b1\u30fb\u3073\u3089\u3093\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>\u4ee3\u8868\u7684\u306b\u306f\u4ee5\u4e0b\u304c\u307f\u3089\u308c\u307e\u3059\uff08\u91cd\u75c7\u5ea6\u30fb\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u6642\u301c\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u5e83\u7bc4\u306a\u6c34\u75b1\u30fb\u3073\u3089\u3093<\/strong>\uff08\u8efd\u5fae\u306a\u523a\u6fc0\u3067\u767a\u751f\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u53e3\u8154\u5185\u3001\u54bd\u982d\u3001\u98df\u9053\u306a\u3069\u306e<strong>\u7c98\u819c\u75c5\u5909<\/strong>\uff08\u54fa\u4e73\u30fb\u6442\u98df\u56f0\u96e3\u3001\u6804\u990a\u4e0d\u826f\u3001\u6210\u9577\u4e0d\u826f\uff09 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/junctional-epidermolysis-bullosa\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n\n\n\n<li>\u9f3b\u30fb\u53e3\u5468\u56f2\u3001\u8033\u3001\u6307\u8dbe\u5148\u7aef\u306a\u3069\u306e<strong>\u8089\u82bd\u7d44\u7e54<\/strong>\uff08\u6cbb\u7642\u306b\u96e3\u6e0b\u3057\u3084\u3059\u3044\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u722a\u306e\u7570\u5e38\u3001\u8131\u6bdb\u30fb\u4e4f\u6bdb<\/strong>\u306a\u3069\u306e\u4ed8\u5c5e\u5668\u75c7\u72b6 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u76ae\u819a\u30d0\u30ea\u30a2\u7834\u7dbb\u306b\u4f34\u3046<strong>\u611f\u67d3\uff08\u8702\u7aa9\u7e54\u708e\u3001\u6557\u8840\u75c7\uff09<\/strong>\u3001\u4f53\u6db2\u55aa\u5931<\/li>\n\n\n\n<li>\u4e0a\u6c17\u9053\u75c5\u5909\u306a\u3069\u306b\u3088\u308b<strong>\u547c\u5438\u5668\u5408\u4f75\u75c7<\/strong>\u304c\u554f\u984c\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059 (<a href=\"https:\/\/www.labcorp.com\/content\/dam\/labcorp\/drupal\/junctional%20epidermolysis%20bullosa.pdf?utm_source=chatgpt.com\">Labcorp<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u6240\u898b\u306b\u52a0\u3048\u3001\u4ee5\u4e0b\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u63a8\u5968\uff09<\/strong><strong><br><\/strong>JEB\u306f\u3001LAMC2\u3092\u542b\u3080\u95a2\u9023\u907a\u4f1d\u5b50\uff08COL17A1\u3001ITGB4\u3001LAMA3\u3001LAMB3\u3001LAMC2 \u306a\u3069\uff09\u306e<strong>\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8<\/strong>\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u751f\u691c\uff08\u88dc\u52a9\uff09<\/strong><strong><br><\/strong>\u514d\u75ab\u86cd\u5149\u6297\u539f\u30de\u30c3\u30d4\u30f3\u30b0\u3084\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u3001\u8868\u76ae\u2014\u771f\u76ae\u63a5\u5408\u90e8\u306e\u7570\u5e38\u3084\u95a2\u9023\u86cb\u767d\u306e\u6b20\u640d\u3092\u8a55\u4fa1\u3057\u307e\u3059\uff08\u8fd1\u5e74\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u7b2c\u4e00\u9078\u629e\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u9451\u5225<\/strong><strong><br><\/strong>\u8868\u76ae\u6c34\u75b1\u75c7\uff08EBS\/DEB\uff09\u3084Kindler\u75c7\u5019\u7fa4\u306a\u3069\u3001\u4ed6\u306e\u76ae\u819a\u8106\u5f31\u6027\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u91cd\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u6839\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001**\u652f\u6301\u7642\u6cd5\uff08\u5408\u4f75\u75c7\u4e88\u9632\u3068\u751f\u6d3b\u306e\u8cea\u306e\u7dad\u6301\uff09**\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5275\u50b7\u30b1\u30a2<\/strong>\uff1a\u975e\u56fa\u7740\u6027\u30c9\u30ec\u30c3\u30b7\u30f3\u30b0\u3001\u3073\u3089\u3093\u7ba1\u7406\u3001\u76ae\u819a\u4fdd\u8b77<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u5bfe\u7b56<\/strong>\uff1a\u5275\u90e8\u611f\u67d3\u306e\u65e9\u671f\u6cbb\u7642\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u6297\u83cc\u85ac<\/li>\n\n\n\n<li><strong>\u75bc\u75db\u7ba1\u7406<\/strong>\uff1a\u51e6\u7f6e\u6642\u30fb\u6162\u6027\u75db\u3078\u306e\u93ae\u75db<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\uff1a\u6442\u98df\u56f0\u96e3\u3078\u306e\u6804\u990a\u4ecb\u5165\uff08\u7d4c\u7ba1\u6804\u990a\u7b49\u3092\u542b\u3080\uff09<\/li>\n\n\n\n<li><strong>\u547c\u5438\u30fb\u6c17\u9053\u7ba1\u7406<\/strong>\uff1a\u4e0a\u6c17\u9053\u75c5\u5909\u3084\u547c\u5438\u5668\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u591a\u8077\u7a2e\u9023\u643a<\/strong>\uff1a\u76ae\u819a\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u65b0\u751f\u5150\u79d1\u3001\u6804\u990a\u3001\u30ea\u30cf\u3001\u7de9\u548c\u30b1\u30a2\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0 (<a href=\"https:\/\/www.debra.org\/understanding-eb\/junctional-eb?utm_source=chatgpt.com\">debra.org<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u3068\u3057\u3066\u3001\u907a\u4f1d\u5b50\u30fb\u7d30\u80de\u6cbb\u7642\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u9069\u5fdc\u3084\u5b9f\u65bd\u65bd\u8a2d\u306f\u9650\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GeneReviews\u00ae\uff1aJunctional Epidermolysis Bullosa\uff08\u8a3a\u65ad\u57fa\u6e96\u3001\u81e8\u5e8a\u50cf\u3001\u907a\u4f1d\u5b66\u3001\u7ba1\u7406\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1125\/\">NCBI<\/a>)<\/li>\n\n\n\n<li>MedlinePlus Genetics\uff1aJunctional epidermolysis bullosa\uff08\u75c5\u578b\u8aac\u660e\u3001\u4e3b\u8981\u75c7\u72b6\uff09 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/junctional-epidermolysis-bullosa\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n\n\n\n<li>Orphanet\uff1aJunctional epidermolysis bullosa\uff08\u75be\u60a3\u6982\u8aac\u30fb\u75ab\u5b66\u306e\u6982\u7565\uff09 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/305?utm_source=chatgpt.com\">Orpha<\/a>)<\/li>\n\n\n\n<li>Kelly-Mancuso G, et al. <em>Pediatr Dermatol.<\/em> 2014\uff1aJEB\u306e\u767a\u751f\u983b\u5ea6\u3068\u751f\u5b58\u306b\u95a2\u3059\u308b\u5831\u544a\uff08DebRA\u30c7\u30fc\u30bf\uff09 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23721227\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>debra of America\uff1aJunctional EB\uff08\u30b1\u30a2\u306e\u8003\u3048\u65b9\uff1a\u5275\u50b7\u30fb\u75bc\u75db\u30fb\u5408\u4f75\u75c7\u4e2d\u5fc3\uff09 (<a href=\"https:\/\/www.debra.org\/understanding-eb\/junctional-eb?utm_source=chatgpt.com\">debra.org<\/a>)<\/li>\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121851","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121851","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121851\/revisions"}],"predecessor-version":[{"id":125314,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121851\/revisions\/125314"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121851"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}