{"id":4259,"date":"2020-11-11T11:09:03","date_gmt":"2020-11-11T11:09:03","guid":{"rendered":"https:\/\/dermatly.com\/epidermolisis-ampollosa-distrofica\/"},"modified":"2026-03-10T10:12:11","modified_gmt":"2026-03-10T10:12:11","slug":"dystrophic-epidermolysis-bullosa","status":"publish","type":"glossary","link":"https:\/\/dermatly.com\/en\/epidermolisis-ampollosa-distrofica\/","title":{"rendered":"Dystrophic Epidermolysis Bullosa"},"content":{"rendered":"<section class=\"textBlock\">\n<h2>\u00bfQu\u00e9 es la epiderm\u00f3lisis ampollosa?<\/h2>\n<p>La epiderm\u00f3lisis ampollosa (EB) es un grupo de enfermedades hereditarias que se caracterizan por la formaci\u00f3n de ampollas <span class=\"term\" data-term-id=\"2115\">lesiones<\/span> en la piel y <span class=\"term\" data-term-id=\"188\">mucoso<\/span> membranas.  Estos pueden ocurrir en cualquier parte del cuerpo, pero m\u00e1s com\u00fanmente aparecen en sitios de fricci\u00f3n y menor <span class=\"term\" data-term-id=\"1365\">trauma<\/span> como los pies y las manos.  En algunos subtipos, las ampollas tambi\u00e9n pueden aparecer en \u00f3rganos internos, como el <span class=\"term\" data-term-id=\"2170\">es\u00f3fago<\/span>, est\u00f3mago y v\u00edas respiratorias, sin ning\u00fan roce aparente.<\/p>\n<h2>Que es <span class=\"term\" data-term-id=\"2353\">distr\u00f3fico<\/span> epiderm\u00f3lisis ampollosa?<\/h2>\n<p>La epiderm\u00f3lisis ampollosa distr\u00f3fica (DEB) se caracteriza por el sitio de formaci\u00f3n de ampollas en el <span class=\"term\" data-term-id=\"2350\"><span class=\"term\" data-term-id=\"2356\">l\u00e1mina<\/span> densa<\/span> dentro de <span class=\"term\" data-term-id=\"21\"><span class=\"term\" data-term-id=\"1970\">membrana basal<\/span> zona<\/span> y el superior <span class=\"term\" data-term-id=\"61\">dermis<\/span>.  Causa <span class=\"term\" data-term-id=\"308\">generalizado<\/span> ampollas en la piel e internas <span class=\"term\" data-term-id=\"1486\">membranas mucosas<\/span> y conduce a <span class=\"term\" data-term-id=\"1191\">cicatriz<\/span> formaci\u00f3n.<\/p>\n<div id=\"square-placement-country-holder\" class=\"country-dependent advert\">\n<div class=\"box-placement square-placement\">\n<div class=\"advert__frame\">\n                        <!-- \/340621630\/dermnet_mobile_afterfirstsection_300x250 --><\/p>\n<div style=\"display: none;\" id=\"hidden-div-gpt-ad-1484122037505-8\" class=\"[ js-hideable ]\"><\/div>\n<p><script>\n    if (ads_screenwidth < 780 ) {\n        var inline = document.createElement(\"div\");\n        var ad = document.createElement(\"div\");\n\n        ad.id = 'div-gpt-ad-1484122037505-8';\n        ad.style.height=\"250px\";\n        ad.style.width=\"300px;\";\n\n        inline.appendChild(ad);\n        inline.className = \"inline\";\n        var placeholder = document.getElementById(\"hidden-div-gpt-ad-1484122037505-8\");\n        placeholder.parentNode.replaceChild(inline, placeholder);\n        (function () {\n            googletag.cmd.push(function () {\n                googletag.display('div-gpt-ad-1484122037505-8');\n            });\n        })();\n    }\n<\/script>\n                    <\/div>\n<\/p><\/div>\n<\/p><\/div>\n<h2>\u00bfQui\u00e9n padece epiderm\u00f3lisis ampollosa distr\u00f3fica?<\/h2>\n<p><span>Epiderm\u00f3lisis ampollosa distr\u00f3fica<\/span> es una enfermedad hereditaria rara.  Hay dos subtipos principales: <span class=\"term\" data-term-id=\"828\">autos\u00f3mico<\/span> dominante <span>epiderm\u00f3lisis ampollosa distr\u00f3fica (DDEB) <\/span>y <span class=\"term\" data-term-id=\"830\">autos\u00f3mica recesiva<\/span> <span>epiderm\u00f3lisis ampollosa distr\u00f3fica<span> (<\/span><span>RDEB)<\/span><\/span>.  Esta \u00faltima es la forma m\u00e1s severa.<\/p>\n<h2>\u00bfCu\u00e1l es la causa de la epiderm\u00f3lisis ampollosa distr\u00f3fica?<\/h2>\n<p>Dominante d<span>epiderm\u00f3lisis ampollosa estr\u00f3fica<\/span> <span>es causado por <em><span class=\"term\" data-term-id=\"777\">heterocigoto<\/span><\/em> <span class=\"term\" data-term-id=\"870\">mutaci\u00f3n<\/span> en el tipo VII <span class=\"term\" data-term-id=\"39\">col\u00e1geno<\/span> <span class=\"term\" data-term-id=\"774\">gene<\/span> (<em>COL7A1<\/em>;  120120<\/span><a rel=\"nofollow noopener noreferrer\" target=\"_blank\" href=\"https:\/\/www.omim.org\/entry\/120120\"><\/a><span>) en <span class=\"term\" data-term-id=\"1271\">cromosoma<\/span> 3p21.<\/span><\/p>\n<p>Recesivo d<span>epiderm\u00f3lisis ampollosa estr\u00f3fica<\/span> Es debido a <em><span class=\"term\" data-term-id=\"779\">homocigoto<\/span><\/em>  o <em>compuesto<\/em> mutaci\u00f3n heterocig\u00f3tica en el gen que codifica el col\u00e1geno tipo VII (<em>COL7A1<\/em>;  120120) en el cromosoma 3p21.<\/p>\n<h2>\u00bfCu\u00e1les son las caracter\u00edsticas cl\u00ednicas de la epiderm\u00f3lisis ampollosa distr\u00f3fica?<\/h2>\n<table class=\"borders\">\n<tbody>\n<tr>\n<th>Subtipos DEB<\/th>\n<th>Caracteristicas<\/th>\n<\/tr>\n<tr>\n<td>EB dominante generalizado (DEB)<\/td>\n<td>\n<ul>\n<li>Ampollas generalizadas presentes al nacer<\/li>\n<li>Las ampollas se vuelven <span class=\"term\" data-term-id=\"324\">localizado<\/span> a manos, pies, codos o rodillas a medida que el ni\u00f1o crece y en respuesta a la fricci\u00f3n<\/li>\n<li>Peque\u00f1as manchas blancas llamadas <span class=\"term\" data-term-id=\"1650\">milia<\/span> a menudo est\u00e1n presentes en sitios curados pero con cicatrices<\/li>\n<li>Bart <span class=\"term\" data-term-id=\"350\">s\u00edndrome<\/span>: <span class=\"term\" data-term-id=\"11\">aplasia<\/span> <span class=\"term\" data-term-id=\"48\">cutis<\/span>, lesiones en la boca y anomal\u00edas <span class=\"term\" data-term-id=\"193\">u\u00f1as<\/span> debido al col\u00e1geno tipo 7 anormal en el anclaje <span class=\"term\" data-term-id=\"1709\">fibrillas<\/span><\/li>\n<li>Tambi\u00e9n puede tener ampollas en el es\u00f3fago<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<tr>\n<td>EB recesiva grave generalizada (RDEB)<br \/>Anteriormente conocido como Hallopeau-Siemens;  y;<br \/>RDEB intermedio generalizado (anteriormente no Hallopeau-Siemens)<\/td>\n<td>\n<ul>\n<li>Puede presentarse con ampollas severas (RDEB severa generalizada) o enfermedad leve (RDEB intermedia generalizada)<\/li>\n<li>Las ampollas severas generalizadas son m\u00e1s comunes e involucran grandes \u00e1reas de piel y membranas mucosas.<\/li>\n<li>Las ampollas curan pero con cicatrices y <span class=\"term\" data-term-id=\"2020\">deformidad<\/span> causando un movimiento limitado ya que los dedos de las manos y los pies pueden fusionarse (manos de manopla)<\/li>\n<li>Complicaciones como <span class=\"term\" data-term-id=\"145\">infecci\u00f3n<\/span>, la desnutrici\u00f3n y la deshidrataci\u00f3n pueden causar la muerte en la infancia<\/li>\n<li>Aquellos que sobreviven corren un gran riesgo de <span class=\"term\" data-term-id=\"2344\">desarrollando<\/span> potencialmente peligroso <span class=\"term\" data-term-id=\"270\">escamoso<\/span> c\u00e9lula <span class=\"term\" data-term-id=\"32\">carcinoma<\/span> (SCC) dentro <span class=\"term\" data-term-id=\"319\">cr\u00f3nico<\/span> Heridas EB.  Los SCC se ven y se comportan de manera diferente en la EB que en los individuos no afectados.  Se encuentran en sitios cubiertos y crecen r\u00e1pidamente.  Se presentan ulceradas o <span class=\"term\" data-term-id=\"1189\">querat\u00f3sico<\/span> <span class=\"term\" data-term-id=\"367\">n\u00f3dulos<\/span> y <span class=\"term\" data-term-id=\"368\">placas<\/span>.<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<section class=\"textBlock imageLinkBlockTitle\">\n<h5 class=\"colour--primary\">Epiderm\u00f3lisis ampollosa distr\u00f3fica recesiva<\/h5>\n<\/section>\n<section class=\"imageLinkBlock\">\n<div class=\"flex\">\n<div class=\"imageLinkBlock__item__image\">\n<p>                        <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/rdeb-1__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDFd.jpg\" alt=\"Epiderm\u00f3lisis ampollosa distr\u00f3fica recesiva\"><\/div>\n<p class=\"p-small\">Epiderm\u00f3lisis ampollosa distr\u00f3fica recesiva<\/p>\n<div class=\"imageLinkBlock__item__image\">\n<p>                        <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/rdeb-2__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDFd.jpg\" alt=\"Epiderm\u00f3lisis ampollosa distr\u00f3fica recesiva\"><\/div>\n<p class=\"p-small\">Epiderm\u00f3lisis ampollosa distr\u00f3fica recesiva<\/p>\n<\/p><\/div>\n<\/section>\n<div class=\"clearfix imageLinkBlock\"><\/div>\n<div id=\"square-placement-country-holder\" class=\"country-dependent advert\">\n<div class=\"box-placement square-placement\">\n<div class=\"advert__frame\">\n                        <!-- \/340621630\/dermnet_mobile_after4sections_300x250' --><\/p>\n<div style=\"display: none;\" id=\"hidden-div-gpt-ad-1484122037505-9\" class=\"[ js-hideable ]\"><\/div>\n<p><script>\n    if (ads_screenwidth < 780 ) {\n        var inline = document.createElement(\"div\");\n        var ad = document.createElement(\"div\");\n\n        ad.id = 'div-gpt-ad-1484122037505-9';\n        ad.style.height=\"250px\";\n        ad.style.width=\"300px;\";\n\n        inline.appendChild(ad);\n        inline.className = \"inline\";\n        var placeholder = document.getElementById(\"hidden-div-gpt-ad-1484122037505-9\");\n        placeholder.parentNode.replaceChild(inline, placeholder);\n        (function () {\n            googletag.cmd.push(function () {\n                googletag.display('div-gpt-ad-1484122037505-9');\n            });\n        })();\n    }\n<\/script>\n                    <\/div>\n<\/p><\/div>\n<\/p><\/div>\n<h2>\u00bfC\u00f3mo se diagnostica la epiderm\u00f3lisis ampollosa distr\u00f3fica?<\/h2>\n<p>En los subtipos dominantes de epiderm\u00f3lisis ampollosa, donde se conoce un \u00e1rbol geneal\u00f3gico informativo, a menudo es aceptable que el diagn\u00f3stico cl\u00ednico lo realice un especialista. <span class=\"term\" data-term-id=\"54\">dermat\u00f3logo<\/span> <span>basado en los signos presentes.<\/span><\/p>\n<ul>\n<li>Las pruebas de diagn\u00f3stico tambi\u00e9n est\u00e1n disponibles en algunos pa\u00edses e incluyen <span class=\"term\" data-term-id=\"24\">biopsia<\/span> de una ampolla reci\u00e9n inducida que sufre <span class=\"term\" data-term-id=\"142\">inmunofluorescencia<\/span> <span class=\"term\" data-term-id=\"410\">ant\u00edgeno<\/span> mapeo (IFM) y \/ o transmisi\u00f3n de electrones <span class=\"term\" data-term-id=\"867\">microscop\u00eda<\/span> (EM).  An\u00e1lisis mutacional (an\u00e1lisis de sangre de <span class=\"term\" data-term-id=\"775\">genes<\/span>), aunque actualmente no se considera la prueba de diagn\u00f3stico de primera l\u00ednea, tambi\u00e9n est\u00e1 disponible en algunos pa\u00edses.<\/li>\n<\/ul>\n<p><span class=\"term\" data-term-id=\"2272\">C\u00e9lulas escamosas<\/span> El carcinoma en la epiderm\u00f3lisis ampollosa distr\u00f3fica se diagnostica por su apariencia cl\u00ednica y se apoya en la biopsia.<\/p>\n<h2>\u00bfCu\u00e1l es el tratamiento de la epiderm\u00f3lisis ampollosa distr\u00f3fica?<\/h2>\n<p>Ver tratamiento de la epiderm\u00f3lisis ampollosa - general.<\/p>\n<ul>\n<li>El purito (picaz\u00f3n) puede ser un problema para los pacientes con epiderm\u00f3lisis ampollosa distr\u00f3fica; estrategias como hidratar y evitar los ambientes calientes pueden ayudar.<\/li>\n<li>En dominante <span>epiderm\u00f3lisis ampollosa distr\u00f3fica<\/span> (DDEB), la atenci\u00f3n se centra en la prevenci\u00f3n y el manejo de ampollas.  Esto se refiere a la piel, pero tambi\u00e9n puede incluir comer alimentos blandos para reducir <span class=\"term\" data-term-id=\"1549\">esof\u00e1gico<\/span> ampollas.<\/li>\n<li>En recesivo severo <span>epiderm\u00f3lisis ampollosa distr\u00f3fica<\/span> (RDEB), es necesaria una gran atenci\u00f3n tanto a la piel como a las membranas mucosas.  Manejo del dolor <span class=\"term\" data-term-id=\"245\">prurito<\/span>, infecci\u00f3n, cicatrices y <span class=\"term\" data-term-id=\"2019\">deformidades<\/span>, desnutrici\u00f3n y <span class=\"term\" data-term-id=\"598\">anemia<\/span> todos juegan un papel importante en el tratamiento diario de la ERDE.<\/li>\n<li>C\u00e9lulas escamosas <span class=\"term\" data-term-id=\"1983\">carcinomas<\/span> son tratados quir\u00fargicamente.  Esto debe hacerse temprano, ya que los tumores son agresivos y, a menudo, han hecho met\u00e1stasis en el momento del diagn\u00f3stico.  Puede ser necesaria una amputaci\u00f3n.<\/li>\n<\/ul>\n<h2>\u00bfCu\u00e1l es el resultado para los pacientes con epiderm\u00f3lisis ampollosa distr\u00f3fica?<\/h2>\n<p>La esperanza de vida no se ve afectada en dominantes <span>epiderm\u00f3lisis ampollosa distr\u00f3fica<\/span>.  En recesivo <span>epiderm\u00f3lisis ampollosa distr\u00f3fica<\/span>, la esperanza de vida ha mejorado significativamente gracias al manejo apropiado y las intervenciones relacionadas con las complicaciones de la enfermedad, incluida la detecci\u00f3n temprana y el tratamiento del carcinoma de c\u00e9lulas escamosas (CCE).<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"<p>\u00bfQu\u00e9 es la epiderm\u00f3lisis ampollosa? La epiderm\u00f3lisis ampollosa (EB) es un grupo de enfermedades hereditarias que se caracterizan por la formaci\u00f3n de ampollas lesiones en la piel y mucoso membranas. Estos pueden ocurrir en cualquier parte del cuerpo, pero m\u00e1s com\u00fanmente aparecen en sitios de fricci\u00f3n y menor trauma como los pies y las manos. [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":4262,"parent":0,"template":"","glossary-cat":[],"class_list":["post-4259","glossary","type-glossary","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.2 (Yoast SEO v27.1.1) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Epiderm\u00f3lisis ampollosa distr\u00f3fica - Dermatly.com - El sitio de tu piel<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dermatly.com\/en\/dystrophic-epidermolysis-bullosa\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Epiderm\u00f3lisis ampollosa distr\u00f3fica\" \/>\n<meta property=\"og:description\" content=\"\u00bfQu\u00e9 es la epiderm\u00f3lisis ampollosa? La epiderm\u00f3lisis ampollosa (EB) es un grupo de enfermedades hereditarias que se caracterizan por la formaci\u00f3n de ampollas lesiones en la piel y mucoso membranas. Estos pueden ocurrir en cualquier parte del cuerpo, pero m\u00e1s com\u00fanmente aparecen en sitios de fricci\u00f3n y menor trauma como los pies y las manos. 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