<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492024000101306</article-id>
<article-id pub-id-type="doi">10.31134/ap.95.1.13</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Ictiosis epidermolítica en un recién nacido. Reporte de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Epidermolytic ichthyosis in newborns. Clinical case study]]></article-title>
<article-title xml:lang="pt"><![CDATA[Ictiose epidermolítica em recém-nascido. Relato de caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[De Franco]]></surname>
<given-names><![CDATA[Micaela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[Analía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta]]></surname>
<given-names><![CDATA[Agustina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[De María]]></surname>
<given-names><![CDATA[Manuela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Álvarez]]></surname>
<given-names><![CDATA[Mariela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,UDELAR CHPR Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,UDELAR Facultad de Medicina Cátedra de Dermatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,UDELAR Facultad de Medicina Cátedra de Dermatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,CHPR Unidad Dermatología Pediátrica ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>95</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492024000101306&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492024000101306&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492024000101306&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: La ictiosis epidermolítica es una genodermatosis de herencia autosómica dominante poco frecuente que requiere un diagnóstico oportuno, idealmente prenatal, para así brindar una asistencia neonatal adecuada, iniciar un tratamiento precoz y de esta manera disminuir su morbimortalidad. Se caracteriza por la formación de ampollas, múltiples erosiones y descamación con eritrodermia desde el nacimiento. Todos los tipos de ictiosis queratinopáticas son causadas por mutaciones en los genes de la familia de queratina KRT1, KRT2 y KRT10. Se presenta el caso clínico de un neonato de 9 días de vida, nacido en el interior del país, con diagnóstico de ictiosis epidermolítica y antecedente familiar de primer grado con la misma enfermedad. El interés de esta publicación radica en la descripción de una genodermatosis de baja frecuencia, reconocer la importancia del diagnóstico precoz, conocer el manejo, las complicaciones y destacar la importancia de la atención por un equipo multidisciplinario conformado por neonatólogo, dermatólogos, genetistas y pediatras.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: Epidermolytic ichthyosis is a rare genodermatosis with autosomal dominant inheritance, which requires timely diagnosis, ideally prenatal diagnosis, in order to provide adequate neonatal care, start early treatment and thus reduce morbidity and mortality. It is characterized by the formation of blisters, multiple erosions and scaling with erythroderma from birth. All types of keratinopathic ichthyoses are caused by mutations in the genes of the keratin family KRT1, KRT2 and KRT10. We present the clinical case of a 9-day-old newborn from the interior of the country, with diagnosis and family history of epidermolytic ichthyosis. The interest of this publication lies in the description of a low-frequency genodermatosis, recognizing the importance of early diagnosis, understanding the management, complications and highlighting the importance of a multidisciplinary care team integrated by a neonatologist, dermatologists, geneticists and pediatricians.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: A ictiose epidermolítica é uma genodermatose autossômica dominante rara que requer diagnóstico oportuno, idealmente pré-natal, para fornecer cuidados neonatais adequados, iniciar o tratamento precoce e, assim, reduzir sua morbidade e mortalidade. Caracteriza-se pela formação de bolhas, múltiplas erosões e descamação com eritrodermia desde o nascimento. Todos os tipos de ictioses queratinopáticas são causados por mutações nos genes da família da queratina KRT1, KRT2 e KRT10. É apresentado o caso clínico de um recém-nascido de 9 dias, nascido no interior do país, com diagnóstico de ictiose epidermolítica e história familiar de primeiro grau com a mesma doença. O interesse desta publicação reside na descrição de uma genodermatose de baixa frequência, reconhecendo a importância do diagnóstico precoce, conhecendo o manejo, as complicações e destacando a importância do atendimento por uma equipe multidisciplinar composta por neonatologistas, dermatologistas, geneticistas e pediatras.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Ictiosis]]></kwd>
<kwd lng="es"><![CDATA[Piel]]></kwd>
<kwd lng="es"><![CDATA[Recién Nacido]]></kwd>
<kwd lng="en"><![CDATA[Ichthyosis]]></kwd>
<kwd lng="en"><![CDATA[Skin]]></kwd>
<kwd lng="en"><![CDATA[Newborn]]></kwd>
<kwd lng="pt"><![CDATA[Ictiose]]></kwd>
<kwd lng="pt"><![CDATA[Pele]]></kwd>
<kwd lng="pt"><![CDATA[Recém Nascido]]></kwd>
</kwd-group>
</article-meta>
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