{"id":33788,"date":"2022-07-12T13:36:50","date_gmt":"2022-07-12T04:36:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33788"},"modified":"2026-04-28T13:56:39","modified_gmt":"2026-04-28T04:56:39","slug":"lamellar-ichthyosis-type-1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1\/","title":{"rendered":"\u8449\u72b6\u9b5a\u9c57\u766c \u2160\u578b"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u5c64\u677f\u72b6\u9b5a\u9c57\u766c\uff08Lamellar Ichthyosis, LI\uff09\u306f\u3001TGM1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u5168\u8eab\u306e\u89d2\u5316\u7570\u5e38\u3084\u539a\u3044\u9c57\u5c51\uff08\u30b9\u30b1\u30fc\u30ea\u30f3\u30b0\uff09\u3092\u7279\u5fb4\u3068\u3057\u3001\u65b0\u751f\u5150\u671f\u306b\u306f\u300c\u30b3\u30ed\u30b8\u30aa\u30f3\u5150\u300d\u3068\u3057\u3066\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001LI\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>TGM1\uff5cLamellar Ichthyosis, Type 1<\/p>\n\n\n\n<p><sup>Ichthyosis, Congenital, Autosomal Recessive 1; Collodion Fetus; Desquamation of Newborn; Lamellar Exfoliation of Newborn <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5c64\u677f\u72b6\u9b5a\u9c57\u766c\uff08Lamellar Ichthyosis, LI\uff09\u306f\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u75c5\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308a\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08ARCI: Autosomal Recessive Congenital Ichthyosis\uff09\u3068\u3044\u3046\u75be\u60a3\u7fa4\u306b\u5206\u985e\u3055\u308c\u308b\u3002LI\u306e\u4e3b\u306a\u539f\u56e0\u306fTGM1\u907a\u4f1d\u5b50\uff08\u30c8\u30e9\u30f3\u30b9\u30b0\u30eb\u30bf\u30df\u30ca\u30fc\u30bc1\u907a\u4f1d\u5b50\uff09\u306e\u5909\u7570\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u76ae\u819a\u306e\u89d2\u5316\u7d30\u80de\u819c\uff08cornified cell envelope, CE\uff09\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u9175\u7d20\u30c8\u30e9\u30f3\u30b9\u30b0\u30eb\u30bf\u30df\u30ca\u30fc\u30bc1\uff08TG1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002TG1\u304c\u6b20\u640d\u3059\u308b\u3068\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u3001\u7570\u5e38\u306a\u89d2\u5316\uff08\u89d2\u8cea\u5f62\u6210\u306e\u7570\u5e38\uff09\u3001\u89d2\u5316\u4ea2\u9032\uff08\u76ae\u819a\u306e\u80a5\u539a\uff09\u3001\u5168\u8eab\u306e\u9c57\u5c51\uff08\u30b9\u30b1\u30fc\u30ea\u30f3\u30b0\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>LI\u306e\u60a3\u8005\u306f\u3057\u3070\u3057\u3070\u30b3\u30ed\u30b8\u30aa\u30f3\u5150\uff08collodion baby\uff09\u3068\u3057\u3066\u51fa\u751f\u3059\u308b\u3002\u3053\u308c\u306f\u3001\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u65b0\u751f\u5150\u304c\u5149\u6ca2\u306e\u3042\u308b\u819c\u72b6\u306e\u76ae\u819a\u306b\u8986\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3059\u3002\u3053\u306e\u819c\u306f\u751f\u5f8c\u6570\u9031\u9593\u4ee5\u5185\u306b\u5265\u304c\u308c\u843d\u3061\u3001\u5168\u8eab\u306b\u539a\u3044\u3001\u677f\u72b6\u306e\u9c57\u5c51\uff08\u7279\u306b\u6697\u8910\u8272\uff09\u304c\u73fe\u308c\u308b\u3002\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u773c\u77bc\u5916\u53cd\uff08ectropion: \u307e\u3076\u305f\u304c\u5916\u5411\u304d\u306b\u53cd\u8ee2\u3059\u308b\u72b6\u614b\uff09\u3001\u53e3\u5507\u5916\u53cd\uff08eclabium: \u5507\u304c\u5916\u5411\u304d\u306b\u3081\u304f\u308c\u308b\u72b6\u614b\uff09\u3001\u7622\u75d5\u6027\u8131\u6bdb\uff08scarring alopecia\uff09\u3001\u624b\u638c\u30fb\u8db3\u5e95\u89d2\u5316\u75c7\uff08palmoplantar keratoderma\uff09\u304c\u898b\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001LI\u3092\u6839\u672c\u7684\u306b\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u4e3b\u306a\u6cbb\u7642\u76ee\u6a19\u3068\u306a\u308b\u3002\u7279\u306b\u3001\u76ae\u819a\u306e\u4fdd\u6e7f\u3084\u89d2\u8cea\u3092\u67d4\u3089\u304b\u304f\u3059\u308b\u6cbb\u7642\u304c\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u308b\u3002\u6700\u8fd1\u3067\u306f\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT: Enzyme Replacement Therapy\uff09\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09\u3001\u7d30\u80de\u6cbb\u7642\uff08Cell Therapy\uff09\u306a\u3069\u306e\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u81e8\u5e8a\u5fdc\u7528\u306b\u306f\u81f3\u3063\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u5c64\u677f\u72b6\u9b5a\u9c57\u766c\u306f\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u30c9\u30a4\u30c4\u3067\u306f\u7d0420\u4e07\u4eba\u306b1\u4eba\uff081:200,000\uff09\u306e\u5272\u5408\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4e16\u754c\u5168\u4f53\u3067\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u306e\u767a\u751f\u7387\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u306e\u4e2d\u3067\u3082\u3001TGM1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3042\u308a\u3001ARCI\u60a3\u8005\u306e32\uff5e68%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u308b\u3002LI\u306f\u3069\u306e\u6c11\u65cf\u306b\u3082\u767a\u751f\u3057\u5f97\u308b\u304c\u3001\u5275\u59cb\u8005\u5909\u7570\uff08founder mutation: \u7279\u5b9a\u306e\u96c6\u56e3\u306b\u7531\u6765\u3059\u308b\u907a\u4f1d\u5b50\u5909\u7570\uff09\u3084\u5730\u57df\u7279\u7570\u7684\u306a\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u3063\u3066\u3001\u767a\u751f\u7387\u304c\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u3002\u4f8b\u3048\u3070\u3001\u30c9\u30a4\u30c4\u3084\u30b9\u30da\u30a4\u30f3\u306b\u304a\u3051\u308b\u75ab\u5b66\u8abf\u67fb\u3067\u306f\u3001\u305d\u308c\u305e\u308c10\u4e07\u4eba\u3042\u305f\u308a1.6\uff5e1.7\u4eba\u3068\u307b\u307c\u540c\u3058\u767a\u751f\u7387\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>TGM1\u907a\u4f1d\u5b50\u306f\u3001\u30c8\u30e9\u30f3\u30b9\u30b0\u30eb\u30bf\u30df\u30ca\u30fc\u30bc1\uff08TG1\uff09\u3068\u547c\u3070\u308c\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306f\u7d30\u80de\u819c\u306b\u7d50\u5408\u3057\u305f\u30ab\u30eb\u30b7\u30a6\u30e0\u4f9d\u5b58\u6027\u306e\u9175\u7d20\u3067\u3042\u308b\u3002TG1\u306e\u4e3b\u306a\u5f79\u5272\u306f\u3001\u76ae\u819a\u306e\u89d2\u5316\u7d30\u80de\u819c\uff08cornified cell envelope, CE\uff09\u306b\u304a\u3044\u3066\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u9593\u306bN\u03b5-(\u03b3-\u30b0\u30eb\u30bf\u30df\u30eb)\u30ea\u30b7\u30f3\u7d50\u5408\u3092\u5f62\u6210\u3059\u308b\u3053\u3068\u3067\u3042\u308b\u3002\u3053\u306e\u5316\u5b66\u7d50\u5408\u306f\u3001\u8868\u76ae\u30d0\u30ea\u30a2\u6a5f\u80fd\u306e\u7dad\u6301\u3084\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u67b6\u6a4b\u7d50\u5408\uff08crosslinking\uff09\u3001\u89d2\u8cea\u7d30\u80de\u819c\u306e\u5f37\u5316\u306b\u91cd\u8981\u306a\u50cd\u304d\u3092\u6301\u3064\u3002<\/p>\n\n\n\n<p>TGM1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308aTG1\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001\u76ae\u819a\u30d0\u30ea\u30a2\u306e\u69cb\u9020\u304c\u4e0d\u5b8c\u5168\u306b\u306a\u308a\u3001\u7d4c\u8868\u76ae\u6c34\u5206\u55aa\u5931\uff08transepidermal water loss\uff09\u304c\u5897\u52a0\u3057\u3066\u91cd\u5ea6\u306e\u4e7e\u71e5\u3084\u89d2\u5316\u4ea2\u9032\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u305d\u306e\u7d50\u679c\u3001\u5168\u8eab\u306b\u539a\u304f\u3066\u5265\u304c\u308c\u306b\u304f\u3044\u9c57\u5c51\u304c\u5f62\u6210\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>ARCI\u306e\u75be\u60a3\u7fa4\u306b\u306f\u3001TGM1\u306e\u307b\u304b12\u7a2e\u985e\u4ee5\u4e0a\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u3001\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3002\u3057\u304b\u3057\u3001TGM1\u5909\u7570\u306f\u7279\u306b\u30b3\u30ed\u30b8\u30aa\u30f3\u5150\u306e\u51fa\u751f\u3001\u773c\u77bc\u5916\u53cd\u3001\u8131\u6bdb\u3068\u306e\u95a2\u9023\u304c\u5f37\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u5c64\u677f\u72b6\u9b5a\u9c57\u766c\u306e\u75c7\u72b6\u306f\u3001\u51fa\u751f\u6642\u304b\u3089\u751f\u6daf\u306b\u308f\u305f\u308a\u6301\u7d9a\u3059\u308b\u3002\u305d\u306e\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306f\u3001TGM1\u5909\u7570\u306e\u7a2e\u985e\u3068TG1\u306e\u6b8b\u5b58\u6d3b\u6027\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u3068\u304a\u308a\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ed\u30b8\u30aa\u30f3\u5150\uff08collodion baby\uff09: \u65b0\u751f\u5150\u304c\u819c\u72b6\u306e\u76ae\u819a\u306b\u8986\u308f\u308c\u3066\u751f\u307e\u308c\u308b\u3002<\/li>\n\n\n\n<li>\u89d2\u5316\u4ea2\u9032\u3068\u9c57\u5c51: \u5168\u8eab\u306b\u539a\u3044\u677f\u72b6\u306e\u9c57\u5c51\u304c\u5f62\u6210\u3055\u308c\u308b\u3002\u7279\u306b\u982d\u76ae\u3001\u4f53\u5e79\u3001\u56db\u80a2\u306b\u9855\u8457\u3002<\/li>\n\n\n\n<li>\u7d05\u6591\uff08erythema\uff09: \u76ae\u819a\u306e\u708e\u75c7\u306b\u3088\u308b\u8d64\u307f\u304c\u898b\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u5916\u53cd\uff08ectropion\uff09: \u307e\u3076\u305f\u304c\u5916\u5411\u304d\u306b\u53cd\u8ee2\u3057\u3001\u4e7e\u71e5\u3084\u523a\u6fc0\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u5507\u5916\u53cd\uff08eclabium\uff09: \u53e3\u5507\u304c\u5916\u5074\u306b\u53cd\u308a\u8fd4\u308b\u3002<\/li>\n\n\n\n<li>\u7622\u75d5\u6027\u8131\u6bdb\uff08scarring alopecia\uff09: \u982d\u76ae\u306e\u89d2\u5316\u7570\u5e38\u306b\u3088\u308a\u8131\u6bdb\u304c\u751f\u3058\u308b\u3002<\/li>\n\n\n\n<li>\u624b\u638c\u30fb\u8db3\u5e95\u89d2\u5316\u75c7\uff08palmoplantar keratoderma\uff09: \u624b\u306e\u3072\u3089\u3084\u8db3\u88cf\u306e\u76ae\u819a\u304c\u786c\u304f\u539a\u304f\u306a\u308b\u3002<\/li>\n\n\n\n<li>\u767a\u6c57\u4f4e\u4e0b\uff08hypohidrosis\uff09: \u767a\u6c57\u304c\u6e1b\u5c11\u3057\u3001\u4f53\u6e29\u8abf\u7bc0\u304c\u56f0\u96e3\u306b\u306a\u308b\u3002<\/li>\n\n\n\n<li>\u8074\u899a\u969c\u5bb3: \u8033\u57a2\u306e\u84c4\u7a4d\u3084\u5916\u8033\u9053\u306e\u89d2\u5316\u7570\u5e38\u306b\u3088\u308b\u96e3\u8074\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u81e8\u5e8a\u8a3a\u65ad: \u7279\u5fb4\u7684\u306a\u76ae\u819a\u75c7\u72b6\u3092\u57fa\u306b\u8a3a\u65ad\u3002\u7d44\u7e54\u75c5\u7406\u691c\u67fb: \u76ae\u819a\u751f\u691c\u306b\u3088\u308a\u89d2\u5316\u7570\u5e38\u306e\u8a55\u4fa1\u3002\u96fb\u5b50\u9855\u5fae\u93e1\uff08EM\uff09: \u8102\u8cea\u69cb\u9020\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3002\u907a\u4f1d\u5b50\u691c\u67fb: \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u307e\u305f\u306f\u7279\u5b9a\u306e\u5909\u7570\u89e3\u6790\u306b\u3088\u308aTGM1\u306e\u5909\u7570\u3092\u540c\u5b9a\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001LI\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u6cbb\u7642\u6cd5\u306f\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u57fa\u672c\u6cbb\u7642<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4fdd\u6e7f\u5264\u30fb\u30a8\u30e2\u30ea\u30a8\u30f3\u30c8\uff08\u30ef\u30bb\u30ea\u30f3\u3001\u5c3f\u7d20\u542b\u6709\u30ed\u30fc\u30b7\u30e7\u30f3\uff09<\/li>\n\n\n\n<li>\u89d2\u8cea\u5265\u96e2\u5264\uff08\u30b5\u30ea\u30c1\u30eb\u9178\u3001\u4e73\u9178\u3001AHA\uff09<\/li>\n\n\n\n<li>\u30ec\u30c1\u30ce\u30a4\u30c9\uff08\u30a2\u30b7\u30c8\u30ec\u30c1\u30f3\uff09: \u91cd\u75c7\u4f8b\u306b\u6709\u52b9\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u65b0\u898f\u6cbb\u7642\u306e\u5c55\u671b<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT; Enzyme Replacement Therapy\uff09<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642<\/li>\n\n\n\n<li>\u5e79\u7d30\u80de\u79fb\u690d\uff08\u7d30\u80de\u6cbb\u7642\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u5c64\u677f\u72b6\u9b5a\u9c57\u766c\u306f\u6162\u6027\u7684\u304b\u3064\u751f\u6daf\u306b\u308f\u305f\u308b\u75be\u60a3\u3067\u3042\u308a\u3001\u751f\u6d3b\u306e\u8cea\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3002\u751f\u547d\u3092\u8105\u304b\u3059\u3082\u306e\u3067\u306f\u306a\u3044\u304c\u3001\u76ae\u819a\u306e\u786c\u5316\u3084\u773c\u77bc\u5916\u53cd\u3001\u4f53\u6e29\u8abf\u7bc0\u306e\u554f\u984c\u306b\u3088\u308a\u3001\u793e\u4f1a\u7684\u306a\u504f\u898b\u3001\u5fc3\u7406\u7684\u30b9\u30c8\u30ec\u30b9\u3001\u6a5f\u80fd\u7684\u969c\u5bb3\u3092\u7d4c\u9a13\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u76ae\u819a\u79d1\u7684\u30b1\u30a2\u3084\u4fdd\u6e7f\u5bfe\u7b56\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u60a3\u8005\u306f\u76ae\u819a\u306e\u5065\u5eb7\u72b6\u614b\u3092\u6539\u5584\u3057\u3001\u75c7\u72b6\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u306a\u308b\u3002\u3057\u304b\u3057\u3001\u75be\u60a3\u306e\u6839\u672c\u7684\u306a\u6539\u5584\u3092\u76ee\u6307\u3059\u6cbb\u7642\u3001\u7279\u306b\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306e\u958b\u767a\u304c\u4f9d\u7136\u3068\u3057\u3066\u6c42\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u9577\u671f\u7684\u306a\u75c7\u72b6\u306e\u8efd\u6e1b\u306b\u3064\u306a\u304c\u308b\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u304c\u6025\u52d9\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.omtm.2024.101311\">Sercia, L., Romano, O., Marini, G., Enzo, E., Forcato, M., De Rosa, L., &amp; De Luca, M. (2024). A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis. <em>Molecular Therapy &#8211; Methods &amp; Clinical Development<\/em>, <em>32<\/em>(3), 101311. https:\/\/doi.org\/10.1016\/j.omtm.2024.101311<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1684\/ejd.2023.4512\">Deng, W., Liu, R., Chen, M., Zhu, G., &amp; Wang, Y. (2023). A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability. <em>European Journal of Dermatology<\/em>, <em>33<\/em>(4), 426\u2013428. https:\/\/doi.org\/10.1684\/ejd.2023.4512<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2340\/00015555-3432\">Fischer, J., &amp; Bourrat, E. (2020). Genetics of Inherited Ichthyoses and Related Diseases. <em>Acta dermato-venereologica<\/em>, <em>100<\/em>(7), adv00096. https:\/\/doi.org\/10.2340\/00015555-3432<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2340\/00015555-3431\">Uitto, J., Youssefian, L., Saeidian, A. H., &amp; Vahidnezhad, H. (2020). Molecular Genetics of Keratinization Disorders &#8211; What&#8217;s New About Ichthyosis. <em>Acta dermato-venereologica<\/em>, <em>100<\/em>(7), adv00095. https:\/\/doi.org\/10.2340\/00015555-3431<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2147\/PGPM.S361350\">Zeng, J., Shan, B., Guo, L., Lv, S., &amp; Li, F. (2022). Compound Heterozygous Mutations in <em>TGM1<\/em> Causing a Severe Form of Lamellar Ichthyosis: A Case Report. <em>Pharmacogenomics and Personalized Medicine<\/em>, <em>15<\/em>, 583\u2013588. https:\/\/doi.org\/10.2147\/PGPM.S361350<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":29,"template":"page_gd.php","class_list":["post-33788","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\/33788","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":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33788\/revisions"}],"predecessor-version":[{"id":127756,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33788\/revisions\/127756"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33788"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}