<?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>1684-1824</journal-id>
<journal-title><![CDATA[Revista Médica Electrónica]]></journal-title>
<abbrev-journal-title><![CDATA[Rev.Med.Electrón.]]></abbrev-journal-title>
<issn>1684-1824</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Matanzas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1684-18242019000401035</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Displasia ectodérmica hipohidrótica autosómica dominante asociada a hipoparatiroidismo]]></article-title>
<article-title xml:lang="en"><![CDATA[Autosomal dominant hypohidrotic ectodermal dysplasia associated to hypoparathyroidism]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Luna Ceballos]]></surname>
<given-names><![CDATA[Elsa Juana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Domínguez Pérez]]></surname>
<given-names><![CDATA[María Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sainz Padrón]]></surname>
<given-names><![CDATA[Laisi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez Acosta]]></surname>
<given-names><![CDATA[Yasmïn]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Provincial de Genética de Matanzas  ]]></institution>
<addr-line><![CDATA[ Matanzas]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Provincial de Genética de Pinar del Río  ]]></institution>
<addr-line><![CDATA[ Pinar del Río]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Ciencias Médicas de Matanzas  ]]></institution>
<addr-line><![CDATA[ Matanzas]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2019</year>
</pub-date>
<volume>41</volume>
<numero>4</numero>
<fpage>1035</fpage>
<lpage>1041</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1684-18242019000401035&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1684-18242019000401035&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1684-18242019000401035&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Las displasias ectodérmicas constituyen alteraciones de los derivados embriológicos del ectodermo. Paciente adulta, con hipoparatiroidismo, llamó la atención por su fenotipo y fue remitida de la consulta de Neurología a la consulta Genética. Se diagnosticó una displasia ectodérmica hipohidrótica, de origen genético con herencia autosómica dominante, poco común para esta entidad. Se presenta este caso con el objetivo de describir las manifestaciones clínicas de esta alteración genética, las cuales nunca fueron objeto de interés médico resultando inadvertidas para su estudio y diagnóstico. Esta alteración se asocia a una condición patológica como el hipoparatiroidismo, en la literatura revisada no se encontraron reportes de la misma. La evaluación clínica de la paciente permitió hacer el diagnóstico y explicar muchos de los problemas para los cuales no existían respuestas, así como ofrecer un asesoramiento genético adecuado para ella y para sus familiares con riesgo de padecer una condición genética similar.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Ectodermic dysplasias are alterations of the ectoderm embryologic derivatives. This is a case of an adult female patient with hypoparathyroidism, drawing attention due to her phenotype; she was remitted by the consultation of Neurology to the Genetic one. She was diagnosed a hypohidrotic ectodermal dysplasia, of genetic origin with autosomal dominant inheritance, what is very rare for this entity. The case is presented with the aim of describing the clinical manifestation of this genetic alteration that never drew medical interest and nobody diagnosed or studied. It is associated to a pathologic condition like hypothyroidism and was not reported in medical literature before. The clinical evaluation of the patient allowed arriving to the diagnostic and explaining many problems that were unexplained, and also offering the adequate genetic advice to her and her relatives likewise at risk of suffering a similar genetic condition.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[displasia ectodérmica hipohidrótica]]></kwd>
<kwd lng="es"><![CDATA[genodermatosis]]></kwd>
<kwd lng="es"><![CDATA[trastorno de la piel de origen genético]]></kwd>
<kwd lng="es"><![CDATA[hipoparatiroidismo]]></kwd>
<kwd lng="en"><![CDATA[hypohidrotic ectodermal dysplasia]]></kwd>
<kwd lng="en"><![CDATA[genodermatosis]]></kwd>
<kwd lng="en"><![CDATA[skin disorder of genetic origins]]></kwd>
<kwd lng="en"><![CDATA[hypoparathyroidism]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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