<?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>2301-1254</journal-id>
<journal-title><![CDATA[Anales de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[Anfamed]]></abbrev-journal-title>
<issn>2301-1254</issn>
<publisher>
<publisher-name><![CDATA[Universidad de la República. Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2301-12542025000101401</article-id>
<article-id pub-id-type="doi">10.25184/anfamed2025v12n1a5</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Oligodoncia debida a una forma leve de displasia ectodérmica hipohidrótica. Desde una visión integral: acercamiento al diagnóstico genético, impacto a nivel bio-psico-social y manejo de la restauración. A propósito de un caso clínico.]]></article-title>
<article-title xml:lang="en"><![CDATA[Oligodoncy due to mild hypohydrotic ectodermal dysplasia. From a comprehensive vision: approach to genetic diagnosis, impact at the psychosocial level and management of the restoration. A case report.]]></article-title>
<article-title xml:lang="pt"><![CDATA[Oligodontia devida a uma forma leve de displasia ectodérmica hipohidrótica. A partir de uma visão integral: abordagem ao diagnóstico genético, impacto a nível bio-psico-social e manejo da restauração. Sobre um caso clínico.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Batalla]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barboni]]></surname>
<given-names><![CDATA[Álvaro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Raggio]]></surname>
<given-names><![CDATA[Victor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,a.batalla.alvarez@gmail.com  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,odontobarboni@gmail.com  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Montevideo  ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<volume>12</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S2301-12542025000101401&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S2301-12542025000101401&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S2301-12542025000101401&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La displasia ectodérmica hipohidrótica (DEH) es una genodermatosis caracterizada por afectación de la piel y sus anexos. Su prevalencia se aproxima a 1/5000 recién nacidos en el mundo. Presenta heterogeneidad de locus por lo que su herencia puede ser: autosómica dominante (HAD), autosómica recesiva (HAR) y recesiva ligada al cromosoma X (RLX). Puede detectarse en etapa prenatal, pero en general el diagnóstico se realiza en la primera infancia. La DEH leve se ve en mujeres portadoras de una mutación en el gen EDA (Xq12-13.1). Su expresividad es variable, pero puede llegar a tener gran repercusión bio-psico-social. El tratamiento se define como paliativo, con el uso de cremas hidratantes, control ambiental, prótesis dentales. Un trabajo sobre gemelares diagnosticados en período prenatal y tratados con una enzima sintética intrautero abre gran expectativa sobre la posibilidad de la terapia enzimática o génica. Presentamos el caso de una niña de 4 años con oligodoncia y afectación leve de piel que cuenta con antecedentes familiares por línea materna descriptos como eczema y dermatitis atópica, en la cual se realizó estudio genético que identificó una variante probablemente patogénica en el gen EDA. Para definir la patogenicidad de esta variante, se plantea analizar la segregación en la familia materna, junto con la profundización del análisis fenotípico en estos familiares.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Hypohydrotic ectodermal dysplasia (HDE) is a genodermatosis characterised by involvement of the skin and its annexes. Its prevalence is close to 1/5.000 newborns in the world. It presents heterogeneity of locus so its inheritance mechanism can be autosomal dominant (ADI), autosomal recessive (ARI) and recessive linked to the X chromosome (RLX). It can be detected at the prenatal stage, but in general the diagnosis is made in early childhood. Mild HDE is seen in women with a mutation in the EDA gene (Xq12-13.1). Its expressiveness is variable, but it can have a great bio-psycho-social impact. The treatment is defined as palliative, with the use of moisturisers, environmental control, dental prostheses. A work on twins diagnosed in the prenatal period and treated with an intrauterous synthetic enzyme opens great expectation about the possibility of enzymatic or gene therapy. We present the case of a 4-year-old girl with oligodontia and mild skin involvement who has a family history described as eczema and atopic dermatitis, in which a genetic study was carried out that identified a probably pathogenic variant in the EDA gene. To define the pathogenicity of this variant, it is proposed to analyse the segregation in the maternal family, along with the deepening of the phenotypic analysis in these family members.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A displasia ectodérmica hipo-hidrótica (DEH) é uma genodermatose caracterizada pelo envolvimento da pele e seus anexos. Sua prevalência se aproxima de 1/5000 recém-nascidos no mundo. Apresenta heterogeneidade de locus pelo que sua herança pode ser: autossômica dominante (HAD), autossômica recessiva (HAR) e recessiva ligada ao cromossomo X (RLX). Pode ser detectado na fase pré-natal, mas em geral o diagnóstico é feito na primeira infância. A DEH leve é vista em mulheres portadoras de uma mutação no gene EDA (Xq12-13.1). Sua expressividade é variável, mas pode ter grande repercussão bio-psico-social. O tratamento é definido como paliativo, com o uso de cremes hidratantes, controle ambiental, próteses dentárias. Um trabalho sobre gêmeos diagnosticados no período pré-natal e tratados com uma enzima sintética intrauterino abre grande expectativa sobre a possibilidade da terapia enzimática ou gênica. Apresentamos o caso de uma menina de 4 anos com oligodontia e comprometimento leve da pele que tem antecedentes familiares por linha materna descrito como eczema e dermatite atópica, na qual foi realizado um estudo genético que identificou uma variante provavelmente patogênica no gene EDA. Para definir a patogenicidade desta variante, propõe-se analisar a segregação na família materna, juntamente com o aprofundamento da análise fenotípica nesses familiares.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[displasia ectodérmica]]></kwd>
<kwd lng="es"><![CDATA[piel]]></kwd>
<kwd lng="es"><![CDATA[dermatología]]></kwd>
<kwd lng="es"><![CDATA[oligodoncia]]></kwd>
<kwd lng="es"><![CDATA[odontología pediátrica]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="es"><![CDATA[herencia ligada al cromosoma X]]></kwd>
<kwd lng="en"><![CDATA[Ectodermal dysplasia]]></kwd>
<kwd lng="en"><![CDATA[skin]]></kwd>
<kwd lng="en"><![CDATA[dermatology]]></kwd>
<kwd lng="en"><![CDATA[oligodontics]]></kwd>
<kwd lng="en"><![CDATA[paediatric dentistry]]></kwd>
<kwd lng="en"><![CDATA[genetics]]></kwd>
<kwd lng="en"><![CDATA[X-linked inheritance]]></kwd>
<kwd lng="pt"><![CDATA[displasia ectodérmica]]></kwd>
<kwd lng="pt"><![CDATA[pele]]></kwd>
<kwd lng="pt"><![CDATA[dermatologia]]></kwd>
<kwd lng="pt"><![CDATA[oligodontia]]></kwd>
<kwd lng="pt"><![CDATA[odontologia pediátrica]]></kwd>
<kwd lng="pt"><![CDATA[genética]]></kwd>
<kwd lng="pt"><![CDATA[herança ligada ao cromossomo X]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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