{"id":2778,"date":"2022-10-01T20:19:17","date_gmt":"2022-10-01T20:19:17","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2778"},"modified":"2025-12-20T20:13:12","modified_gmt":"2025-12-20T20:13:12","slug":"mosaicismo-y-neuropediatria","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/mosaicismo-y-neuropediatria\/","title":{"rendered":"Mosaicismo y neuropediatr\u00eda."},"content":{"rendered":"\n<div id=\"wp-block-themeisle-blocks-accordion-055a2524\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Se debe sospechar <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK585455\/?report=reader\">mosaicismo gen\u00e9tico<\/a> cuando el paciente presente: <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Trastorno del crecimiento asim\u00e9trico.\n<ul class=\"wp-block-list\">\n<li>Combinado con lesiones pigmentarias de la piel de distribuci\u00f3n parcheada (como por ejemplo manchas caf\u00e9 con leche, nevus, etc.), particularmente si tienen una distribuci\u00f3n siguiendo las l\u00edneas de Blaschko. <\/li>\n\n\n\n<li>Combinado con malformaciones vasculares. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"685\" height=\"448\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-37.png\" alt=\"\" class=\"wp-image-2919\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-37.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-37-300x196.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-37-18x12.png 18w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption class=\"wp-element-caption\">Principales tipos de mosaicismo: En funci\u00f3n de la l\u00ednea celular afectada: som\u00e1tico (a), gonosomal (b), germinal (c). Patrones reconocibles de mutaciones en mosaico en la piel: Lineas de Blaschko estrechas (d), lineas de Blaschko anchas (e), patr\u00f3n en tablero de ajedrez (f), patr\u00f3n filoide (g), patr\u00f3n parcheado sin separaci\u00f3n en la l\u00ednea media (h).&nbsp;<br><div id=\"zotpress-d744b8916ca3bb837d4614c57b0d4679\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:JDDAGD22}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER 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id=\"zp-ID-2778-332710-JDDAGD22\" data-zp-author-date='Biesecker-and-Spinner-2013-05' data-zp-date-author='2013-05-Biesecker-and-Spinner' data-zp-date='2013-05' data-zp-year='2013' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet [Internet]. 2013 May [cited 2015 Oct 2];14(5):307\u201320. Available from: <a class='zp-ItemURL' href='http:\/\/www.nature.com\/nrg\/journal\/v14\/n5\/abs\/nrg3424.html'>http:\/\/www.nature.com\/nrg\/journal\/v14\/n5\/abs\/nrg3424.html<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mosaicismo cut\u00e1neo y trastornos neurocut\u00e1neos en mosaico.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>La presencia de mosaicismo cut\u00e1neo pigmentario es un factor de riesgo de trastornos del neurodesarrollo (hasta el 56% presentan manifestaciones extracut\u00e1neas, que pueden ser neurol\u00f3gicas, esquel\u00e9ticas, endocrinol\u00f3gicas, etc.).<\/li>\n\n\n\n<li>Las enfermedades de presentaci\u00f3n en mosaico pueden tener varias causas gen\u00e9ticas subyacentes, desde mutaciones puntuales hasta reordenamientos cromos\u00f3micos. <\/li>\n\n\n\n<li>El diagn\u00f3stico diferencial de los distintos tipos de enfermedades en mosaico es dificil. Se caracterizan por presentar un espectro fenot\u00edpico muy amplio con un grado elevado de variabilidad cl\u00ednica, ya que la esencia del mosacismo es la combinaci\u00f3n de varias poblaciones celulares con distinto c\u00f3digo gen\u00e9tico, y su distribuci\u00f3n y proporci\u00f3n es aleatoria.<\/li>\n<\/ul>\n\n\n<div id=\"zotpress-e0d49a409ddd5d92cd0dab30bfdf019e\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:4IRQSA75}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY 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id=\"zp-ID-2778-332710-4IRQSA75\" data-zp-author-date='Kromann-et-al.-2018-03-05' data-zp-date-author='2018-03-05-Kromann-et-al.' data-zp-date='2018-03-05' data-zp-year='2018' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Kromann AB, Ousager LB, Ali IKM, Aydemir N, Bygum A. Pigmentary mosaicism: a review of original literature and recommendations for future handling. Orphanet Journal of Rare Diseases [Internet]. 2018 Mar 5 [cited 2019 July 20];13(1):39. Available from: <a class='zp-ItemURL' href='https:\/\/doi.org\/10.1186\/s13023-018-0778-6'>https:\/\/doi.org\/10.1186\/s13023-018-0778-6<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-dcc9775b\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Reordenamientos cromos\u00f3micos en mos\u00e1ico (CNV). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Existen algunos s\u00edndromes de presentaci\u00f3n exclusiva en mosaico, como el <a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/Pallister-Killian%20syndrome%20FTNW.pdf\">s\u00edndrome de Pallister-Killian<\/a>. <\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La<a href=\"http:\/\/neuropediatoolkit.org\/sindromes-neurocutaneos\"> hipomelanosis de Ito<\/a> es un trastorno neurocut\u00e1neo cl\u00e1sico en el que existe un reordenamiento cromos\u00f3mico identificable por biopsia (que puede afectar a m\u00faltiples regiones cromos\u00f3micas distintas), y condiciona cambios pigmentarios por afectaci\u00f3n del desarrollo de la cresta neural (<a href=\"http:\/\/neuropediatoolkit.org\/embriologia-y-neurodesarrollo\/\">neurocristopat\u00eda<\/a>). <\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Enfermedades monogen\u00e9ticas en mosaico.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Se trata de enfermedades de herencia autos\u00f3mico dominante.<\/li>\n\n\n\n<li>Algunas de ellas no son compatibles con la vida en su presentaci\u00f3n constitucional (conducen a aborto o muerte fetal, como el s\u00edndrome CHILD), debido a que el gen afecto es de elevada importancia evolutiva, por lo que s\u00f3lo sobreviven los mosaicos con fenotipo atenuado. <\/li>\n<\/ul>\n\n\n<div id=\"zotpress-fc860321b5cd0043dc4e5e408bfec247\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:7PUCVWCD}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY 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id=\"zp-ID-2778-332710-7PUCVWCD\" data-zp-author-date='Ruggieri-et-al.-0000-00-00' data-zp-date-author='0000-00-00-Ruggieri-et-al.' data-zp-date='0000-00-00' data-zp-year='0000' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Ruggieri M, Pratic\u00f2 PD, Happle R. Mosaic Neurocutaneous Disorders and Their Causes. Seminars in Pediatric Neurology [Internet]. [cited 2015 Nov 13]; Available from: <a class='zp-ItemURL' href='http:\/\/www.sciencedirect.com\/science\/article\/pii\/S1071909115000765'>http:\/\/www.sciencedirect.com\/science\/article\/pii\/S1071909115000765<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mosaicismo cerebral y malformaciones cerebrales:<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Existen algunas malformaciones cerebrales que se producen por una mutaci\u00f3n en mosaico. <\/li>\n\n\n\n<li>La distribuci\u00f3n anat\u00f3mica de la malformaci\u00f3n puede ayudar a inferir que se trata de una enfermedad en mosaico, por lo que la neuroimagen es de utilidad para planificar el estudio gen\u00e9tico. <\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"975\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-18-1024x975.png\" alt=\"\" class=\"wp-image-2779\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-18-1024x975.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-18-300x286.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-18-768x731.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-18-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-18.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">Lisencefalia, hemimegalencefalia, double cortex syndrome.<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"947\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-19-947x1024.png\" alt=\"\" class=\"wp-image-2780\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-19-947x1024.png 947w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-19-278x300.png 278w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-19-768x830.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-19-11x12.png 11w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-19.png 1184w\" sizes=\"(max-width: 947px) 100vw, 947px\" \/><figcaption class=\"wp-element-caption\">Displasia cortical focal.<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"532\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-20-1024x532.png\" alt=\"\" class=\"wp-image-2781\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-1024x532.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-300x156.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-768x399.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-1536x798.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-2048x1064.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-18x9.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-20-1568x815.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">El tipo de malformaci\u00f3n cerebral depender\u00e1 del momento de aparici\u00f3n de la mutaci\u00f3n som\u00e1tica durante la organog\u00e9nesis cerebral.<\/figcaption><\/figure>\n\n\n<div 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id=\"zp-ID-2778-332710-UA2BTB43\" data-zp-author-date='Rodin-and-Walsh-2018' data-zp-date-author='2018-Rodin-and-Walsh' data-zp-date='2018' data-zp-year='2018' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Rodin RE, Walsh CA. Somatic Mutation in Pediatric Neurological Diseases. Pediatric Neurology [Internet]. 2018 [cited 2018 Dec 4];87:20\u20132. Available from: <a class='zp-ItemURL' href='https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0887899418308580'>https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0887899418308580<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>T\u00e9cnicas diagn\u00f3sticas de mosaicismo cerebral.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>El mosaicismo gen\u00e9tico frecuentemente no es detectable en sangre perif\u00e9rica y es necesario realizar un estudio en el tejido afecto.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"566\" height=\"389\" 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id=\"zp-ID-2778-332710-RFKQNYMR\" data-zp-author-date='Ye-et-al.-2019' data-zp-date-author='2019-Ye-et-al.' data-zp-date='2019' data-zp-year='2019' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, et al. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Research [Internet]. 2019 [cited 2019 Aug 20];155:106161. Available from: <a class='zp-ItemURL' href='https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0920121119301810'>https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0920121119301810<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Herencia y consejo gen\u00e9tico en el mosaicismo.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"782\" height=\"168\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-38.png\" alt=\"\" class=\"wp-image-2922\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-38.png 782w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-38-300x64.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-38-768x165.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-38-18x4.png 18w\" sizes=\"(max-width: 782px) 100vw, 782px\" \/><figcaption class=\"wp-element-caption\">Tipos de mosaicismo en funci\u00f3n de la gen\u00e9tica.<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Las enfermedades en mosaico ocurren por una mutaci\u00f3n de novo, postcig\u00f3tica, que aconteci\u00f3 en el propio indiv\u00edduo, y no son heredadas (por definici\u00f3n). <\/li>\n\n\n\n<li>S\u00f3lo pueden ser transmitidas en caso de que el individuo afecto sea portador de la mutaci\u00f3n en la l\u00ednea germinal (mosaicismo germinal). <\/li>\n\n\n\n<li>En caso de trasmitir la enfermedad, la presentaci\u00f3n cl\u00ednica en la descendencia no ser\u00e1 en mosaico, sino en forma de mutaci\u00f3n constitucional.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Tratamiento espec\u00edfico<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Existen alternativas de tratamiento espec\u00edfico para algunas enfermedades en mosaico, en particular aquellas que afectan a los genes de la v\u00eda PI3K\/AKT y la via RAS\/RAF.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Protocolo diagn\u00f3stico<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<h1 class=\"wp-block-heading\">\ud83e\udde0\ud83e\uddec Algoritmo cl\u00ednico: Mosaicismo cut\u00e1neo pigmentario \u2192 riesgo neurodesarrollo<\/h1>\n\n\n\n<h2 class=\"wp-block-heading\">1\ufe0f\u20e3 Confirmar que el patr\u00f3n cut\u00e1neo es realmente blaschkoide<\/h2>\n\n\n\n<p><strong>Claves cl\u00ednicas<\/strong>:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>L\u00edneas en \u201cS\u201d en tronco, \u201cV\u201d en espalda, curvas en extremidades<\/li>\n\n\n\n<li>Respeta l\u00edneas medias (no dermatom\u00e9rico, no vascular)<\/li>\n\n\n\n<li>Hiper- o hipopigmentaci\u00f3n segmentaria<\/li>\n<\/ul>\n\n\n\n<p>\ud83d\udc49 Si <strong>no<\/strong> sigue Blaschko \u2192 menor probabilidad de mosaicismo gen\u00e9tico relevante.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">2\ufe0f\u20e3 Estratificaci\u00f3n inicial de riesgo neurol\u00f3gico<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udd34 Alto riesgo (\u22651 criterio):<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Lesiones extensas o bilaterales<\/li>\n\n\n\n<li>Afectaci\u00f3n facial o cuero cabelludo<\/li>\n\n\n\n<li>Asociadas a:\n<ul class=\"wp-block-list\">\n<li>Retraso del desarrollo<\/li>\n\n\n\n<li>Epilepsia<\/li>\n\n\n\n<li>Hipoton\u00eda \/ espasticidad<\/li>\n\n\n\n<li>Macro\/microcefalia<\/li>\n\n\n\n<li>Rasgos dism\u00f3rficos<\/li>\n\n\n\n<li>Asimetr\u00eda corporal<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u27a1\ufe0f Pasar directamente a estudio neurol\u00f3gico y gen\u00e9tico ampliado.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udfe1 Riesgo intermedio:<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Lesiones limitadas<\/li>\n\n\n\n<li>Ni\u00f1o asintom\u00e1tico o con dudas leves del desarrollo<\/li>\n\n\n\n<li>Exploraci\u00f3n neurol\u00f3gica normal<\/li>\n<\/ul>\n\n\n\n<p>\u27a1\ufe0f Seguimiento estructurado + cribado neuropsicol\u00f3gico.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udfe2 Bajo riesgo:<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Lesi\u00f3n peque\u00f1a, localizada<\/li>\n\n\n\n<li>Sin otros hallazgos<\/li>\n\n\n\n<li>Desarrollo claramente normal<\/li>\n<\/ul>\n\n\n\n<p>\u27a1\ufe0f Seguimiento cl\u00ednico, sin pruebas invasivas iniciales.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">3\ufe0f\u20e3 Evaluaci\u00f3n neurol\u00f3gica recomendada<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udd39 Siempre<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Historia del desarrollo detallada<\/li>\n\n\n\n<li>Exploraci\u00f3n neurol\u00f3gica dirigida<\/li>\n\n\n\n<li>Cribado del lenguaje y funciones ejecutivas<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udd39 Si hay sospecha cl\u00ednica<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>EEG<\/strong>:\n<ul class=\"wp-block-list\">\n<li>Crisis, regresi\u00f3n, TDL con fluctuaci\u00f3n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>RM cerebral (3T si posible)<\/strong>:\n<ul class=\"wp-block-list\">\n<li>Epilepsia<\/li>\n\n\n\n<li>Retraso global<\/li>\n\n\n\n<li>Asimetr\u00eda neurol\u00f3gica<\/li>\n\n\n\n<li>Sospecha de malformaci\u00f3n cortical<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\ud83d\udccc La RM puede ser normal incluso con mosaicismo cerebral \u2192 normalidad \u2260 exclusi\u00f3n.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">4\ufe0f\u20e3 Estudios gen\u00e9ticos: qu\u00e9 pedir y en qu\u00e9 tejido<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\u274c Lo que NO es suficiente<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Array o exoma <strong>solo en sangre<\/strong> (falso negativo frecuente)<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\u2714\ufe0f Estrategia recomendada (escalonada)<\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">Nivel 1<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Array-CGH o SNP-array en sangre<\/strong>\n<ul class=\"wp-block-list\">\n<li>Detecta aneuploid\u00edas o CNV de alto porcentaje<\/li>\n\n\n\n<li>\u00datil si hay dismorfias o retraso global<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Nivel 2 (si sospecha persiste)<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Estudio gen\u00e9tico en piel afectada<\/strong>\n<ul class=\"wp-block-list\">\n<li>Biopsia punch<\/li>\n\n\n\n<li>Idealmente:\n<ul class=\"wp-block-list\">\n<li>NGS dirigido<\/li>\n\n\n\n<li>Exoma cl\u00ednico con alta profundidad<\/li>\n\n\n\n<li>Comparaci\u00f3n piel afectada vs sangre<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Nivel 3 (fenotipo espec\u00edfico)<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Paneles dirigidos seg\u00fan cl\u00ednica:\n<ul class=\"wp-block-list\">\n<li>Epilepsia (PI3K-AKT-mTOR, MTOR, PIK3CA)<\/li>\n\n\n\n<li>Trastornos pigmentarios \/ neurocut\u00e1neos<\/li>\n\n\n\n<li>ASD + macrocefalia<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\ud83d\udccc Mosaicismos &lt;10% <strong>requieren profundidad &gt;300\u00d7<\/strong>.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">5\ufe0f\u20e3 Patrones cut\u00e1neos con mayor correlaci\u00f3n neurol\u00f3gica<\/h2>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Patr\u00f3n cut\u00e1neo<\/th><th>Riesgo neurol\u00f3gico<\/th><\/tr><\/thead><tbody><tr><td>Hipomelanosis de Ito extensa<\/td><td>\ud83d\udd34 Alto<\/td><\/tr><tr><td>Blaschko bilateral<\/td><td>\ud83d\udd34 Alto<\/td><\/tr><tr><td>Lesiones con asimetr\u00eda corporal<\/td><td>\ud83d\udd34 Alto<\/td><\/tr><tr><td>Segmentaria localizada<\/td><td>\ud83d\udfe1 Variable<\/td><\/tr><tr><td>Mancha aislada peque\u00f1a<\/td><td>\ud83d\udfe2 Bajo<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">6\ufe0f\u20e3 Seguimiento del neurodesarrollo<\/h2>\n\n\n\n<p>Incluso si asintom\u00e1tico:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Evaluaci\u00f3n del desarrollo cada 6\u201312 meses<\/li>\n\n\n\n<li>Lenguaje, atenci\u00f3n, coordinaci\u00f3n<\/li>\n\n\n\n<li>Umbral bajo para intervenci\u00f3n precoz<\/li>\n<\/ul>\n\n\n\n<p>\ud83d\udc49 Muchos fenotipos son <strong>evolutivos<\/strong>, no cong\u00e9nitos completos.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">7\ufe0f\u20e3 Mensajes clave para la familia (muy importantes)<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u274c No implica culpa ni relaci\u00f3n causal con FIV<\/li>\n\n\n\n<li>\u2714\ufe0f Es un hallazgo biol\u00f3gico temprano<\/li>\n\n\n\n<li>\u2714\ufe0f La mayor\u00eda de ni\u00f1os <strong>no desarrollan discapacidad grave<\/strong><\/li>\n\n\n\n<li>\u2714\ufe0f La detecci\u00f3n precoz <strong>mejora pron\u00f3stico funcional<\/strong><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"746\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-44-1024x746.png\" alt=\"\" class=\"wp-image-7993\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-44-1024x746.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-44-300x218.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-44-768x559.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-44-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-44.png 1516w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" 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id=\"zp-ID-2778-332710-D8ZS6VBH\" data-zp-author-date='Kinsler-2025-12-01' data-zp-date-author='2025-12-01-Kinsler' data-zp-date='2025-12-01' data-zp-year='2025' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Kinsler VA. Mosaic disorders affecting pigmentation \u2013 part 2: how to make a genetic diagnosis. Br J Dermatol [Internet]. 2025 Dec 1 [cited 2025 Dec 20];193(6):1047\u201355. 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