{"id":38432,"date":"2015-01-16T09:09:10","date_gmt":"2015-01-16T13:39:10","guid":{"rendered":"http:\/\/piel-l.org\/blog\/?p=38432"},"modified":"2015-01-16T13:04:45","modified_gmt":"2015-01-16T17:34:45","slug":"caso-no-269-enero-8-2015","status":"publish","type":"post","link":"https:\/\/piel-l.org\/blog\/38432","title":{"rendered":"Caso N\u00ba 269 Enero 8, 2015"},"content":{"rendered":"<p><strong><em>Dr Francisco Gonzalez<\/em><\/strong><br \/>\n<strong><em>Dra. Ana Maria Saenz<\/em><\/strong><br \/>\n<strong><em>Dra Morelyz Luna<\/em><\/strong><br \/>\n<em>Hospital universitario de Caracas<\/em><\/p>\n<p>Paciente femenina de 2 a\u00f1os de edad, nos consulta en septiembre 2014 para egunda opini\u00f3n .<\/p>\n<div id='gallery-1' class='gallery galleryid-38432 gallery-columns-3 gallery-size-thumbnail'><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon landscape'>\n\t\t\t\t<a href='https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide1.jpg'><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide1-150x150.jpg\" class=\"attachment-thumbnail size-thumbnail\" alt=\"\" srcset=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide1-150x150.jpg 150w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide1-25x25.jpg 25w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide1-260x260.jpg 260w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon landscape'>\n\t\t\t\t<a href='https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide2.jpg'><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide2-150x150.jpg\" class=\"attachment-thumbnail size-thumbnail\" alt=\"\" srcset=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide2-150x150.jpg 150w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide2-25x25.jpg 25w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide2-260x260.jpg 260w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon portrait'>\n\t\t\t\t<a href='https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide3.jpg'><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide3-150x150.jpg\" class=\"attachment-thumbnail size-thumbnail\" alt=\"\" srcset=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide3-150x150.jpg 150w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide3-25x25.jpg 25w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide3-260x260.jpg 260w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon portrait'>\n\t\t\t\t<a href='https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide4.jpg'><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide4-150x150.jpg\" class=\"attachment-thumbnail size-thumbnail\" alt=\"\" srcset=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide4-150x150.jpg 150w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide4-25x25.jpg 25w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide4-260x260.jpg 260w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon portrait'>\n\t\t\t\t<a href='https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide5.jpg'><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide5-150x150.jpg\" class=\"attachment-thumbnail size-thumbnail\" alt=\"\" srcset=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide5-150x150.jpg 150w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide5-25x25.jpg 25w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide5-260x260.jpg 260w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon portrait'>\n\t\t\t\t<a href='https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide6.jpg'><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/\/2015\/01\/269-Slide6-150x150.jpg\" class=\"attachment-thumbnail size-thumbnail\" alt=\"\" srcset=\"https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide6-150x150.jpg 150w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide6-25x25.jpg 25w, https:\/\/piel-l.org\/blog\/wp-content\/uploads\/2015\/01\/269-Slide6-260x260.jpg 260w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\" \/><\/a>\n\t\t\t<\/div><\/figure>\n\t\t<\/div>\n\n<p>La paciente es producto de un embarazo controlado que nace a la 35 semanas y es hospitalizada en 2 oportunidades en los primeros meses de vida por Hipogliemia, \u00a0Acidosis metabolica y Neumonia. \u00a0Posteriormente va expresando lesiones cut\u00e1neas, \u00f3seas y odontol\u00f3gicas y consulta Genetista de su localidad ,Dr Jose Antonio Chacin y Dermatologo pediatra , Dr Leopoldo Diaz, quiene realizan estudio complementarios que incluyen: biopsia de piel, Estudio gen\u00e8tico, Evaluaci\u00f2n Oftalmologica, Odontologica, Ecosonografia transfontanelar y abdominal, RMN cerebral. Proponen diagn\u00f3sticos de: S\u00edndrome de Bloom, S\u00edndrome de Rothmund Thompson, Aminoaciduria.<\/p>\n<p>Como hallazgos relevantes :<\/p>\n<p>1. Estudio de amino\u00e1cidos DLN<br \/>\n2. RMNC: Colpocefalia<br \/>\n3.Cariotipo DLN<br \/>\n4. Odontologia: Gingivitis Generalizada<br \/>\n5. Oftalmologia : Blefaritis.<br \/>\n6. Biopsia de piel: Poiquilodermia<\/p>\n<p>Las lesiones cut\u00e1neas, \u00f3seas y fenotipo son las que muestran las fotograf\u00edas.<\/p>\n<p>Nos consulta en spetiembre 2014 con casi todo el trabajo hecho y la hospitalizamos para reevaluaci\u00f2n y conclusi\u00f3n diagn\u00f2stica.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><strong>1. Con todos estos estudios: cual seria su diagn\u00f2stico cl\u00ednico.<\/strong><br \/>\n<strong>2. Que estudios solicitar\u00eda para complementar los realizados previamente<\/strong><br \/>\n<strong>3. Que esperar\u00eda encontrar en el estudio gen\u00f3mico<\/strong><br \/>\n<strong>4. Cuales son las genodermatosis producidas por la alteraci\u00f3n en la actividad de las helicasasRECQ<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Dr Francisco Gonzalez Dra. Ana Maria Saenz Dra Morelyz Luna Hospital universitario de Caracas Paciente femenina de 2 a\u00f1os de edad, nos consulta en septiembre 2014 para egunda opini\u00f3n . La paciente es producto de un embarazo controlado que nace a la 35 semanas y es hospitalizada en 2 oportunidades en los primeros meses de &hellip;<\/p>\n","protected":false},"author":16,"featured_media":38438,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,20],"tags":[],"class_list":["post-38432","post","type-post","status-publish","format-standard","has-post-thumbnail","","category-secciones-de-colaboradores","category-dermatologia-pediatrica"],"_links":{"self":[{"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/posts\/38432","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/users\/16"}],"replies":[{"embeddable":true,"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/comments?post=38432"}],"version-history":[{"count":0,"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/posts\/38432\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/media\/38438"}],"wp:attachment":[{"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/media?parent=38432"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/categories?post=38432"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/piel-l.org\/blog\/wp-json\/wp\/v2\/tags?post=38432"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}