<?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>2795-5001</journal-id>
<journal-title><![CDATA[Portuguese Journal of Dermatology and Venereology]]></journal-title>
<abbrev-journal-title><![CDATA[Port J Dermatol Venereol.]]></abbrev-journal-title>
<issn>2795-5001</issn>
<publisher>
<publisher-name><![CDATA[Permanyer Publications]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2795-50012022000100071</article-id>
<article-id pub-id-type="doi">10.24875/pjd.m22000014</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder]]></article-title>
<article-title xml:lang="pt"><![CDATA[Ulcerações acrais recorrentes secundárias a doença do complexo-DNMT1]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cerejeira]]></surname>
<given-names><![CDATA[Diogo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bonito]]></surname>
<given-names><![CDATA[Frederico]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ionel]]></surname>
<given-names><![CDATA[Cristina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cunha]]></surname>
<given-names><![CDATA[Henriqueta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pereira]]></surname>
<given-names><![CDATA[Pedro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Garcia de Orta, EPE Dermatology Department. ]]></institution>
<addr-line><![CDATA[Almada ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Garcia de Orta, EPE Neurology Department. ]]></institution>
<addr-line><![CDATA[Almada ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2022</year>
</pub-date>
<volume>80</volume>
<numero>1</numero>
<fpage>71</fpage>
<lpage>74</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2795-50012022000100071&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2795-50012022000100071&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2795-50012022000100071&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract DNA methyltransferase 1, encoded by DNMT gene, is a crucial DNA methyltransferase with essential roles in transcription regulation, gene imprinting, and cell differentiation. Dysfunction of this group of enzymes can lead to a variety of neurologically predominant clinical symptoms, including a stereotypic triad of sensory predominant neuropathy, sensorineural hearing loss, and cognitive decline. Herein, we report the case of a Portuguese patient who presented with recurrent acral ulcerations due to hypoalgesia and hypoesthesia, secondary to a novel heterozygous mutation [c.1718T&gt;G (p.Val573Gly)] in DNA methyltransferase 1 gene.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A DNA metiltransferase 1, codificada pelo gene DNMT, é uma DNA metiltransferase crucial na regulação da transcrição, impressão genómica e diferenciação celular. A disfunção desse grupo de enzimas pode conduzir a uma grande variedade de sintomas clínicos de predomínio neurológico, nomeadamente uma tríade característica composta por neuropatia sensitiva, surdez neurossensorial e declínio cognitivo. Neste trabalho, relatamos o caso de um doente de nacionalidade portuguesa, que foi observado em consulta por ulcerações acrais recorrentes devido a hipoalgesia e hipoestesia, secundárias a uma nova mutação heterozigótica [c.1718T&gt; G (p.Val573Gly)] no gene DNMT1.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[DNA (Cytosine-5-)&#8212;Methyltransferase 1/genetics]]></kwd>
<kwd lng="en"><![CDATA[Skin ulcer]]></kwd>
<kwd lng="en"><![CDATA[Etiology]]></kwd>
<kwd lng="pt"><![CDATA[DNA (Citosina-5-)&#8212;Metiltransferase 1/genética]]></kwd>
<kwd lng="pt"><![CDATA[Úlcera de Pele]]></kwd>
<kwd lng="pt"><![CDATA[Etiologia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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