<?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>2182-2395</journal-id>
<journal-title><![CDATA[Revista da Sociedade Portuguesa de Dermatologia e Venereologia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Soc Port Dermatol Venereol]]></abbrev-journal-title>
<issn>2182-2395</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Dermatologia e Venereologia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2182-23952020000400055</article-id>
<article-id pub-id-type="doi">10.29021/spdv.78.4.1230</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Dyskeratosis Congenita and Short Telomeres in a Female Patient]]></article-title>
<article-title xml:lang="pt"><![CDATA[Disqueratose Congénita com Telómeros Curtos numa Doente do Sexo Feminino]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zanuncio]]></surname>
<given-names><![CDATA[Virgínia Vinha]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rocha]]></surname>
<given-names><![CDATA[Kelvin Oliveira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Federal University of Viçosa Department of Medicine and Nursing ]]></institution>
<addr-line><![CDATA[Viçosa Minas Gerais]]></addr-line>
<country>Brazil</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>12</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>12</month>
<year>2020</year>
</pub-date>
<volume>78</volume>
<numero>4</numero>
<fpage>55</fpage>
<lpage>58</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2182-23952020000400055&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2182-23952020000400055&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2182-23952020000400055&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Dyskeratosis congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease causing its early shortening of the telomeres. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals. It is more common in males, with an approximate ratio of 3.2:1. The main early clinical features are a characteristic cutaneous dyspigmentation, nail dystrophy and abnormalities in the oropharynx, usually occurring between five and twelve years of age. Bone marrow failure (BMF) is the leading cause of death but there are other systemic complications. We present a case report of a two-years-old female child, who presented the cardinal mucocutaneous signs and symptoms of DC at an early age, and we emphasize the importance of a multidisciplinary patient monitoring.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO  A disqueratose congénita é uma síndrome hereditária multissistémica, com manifestações clínicas e genéticas heterogéneas, caracterizada como uma doença dos telómeros, causando seu encurtamento precoce. É uma condição rara, com uma incidência anual estimada de 1 em 1 milhão de indivíduos. É mais comum em homens, com uma proporção aproximada de 3,2:1. As principais manifestações clínicas precoces são despigmentação cutânea, distrofia ungueal e anormalidades na orofaringe, ocorrendo geralmente entre cinco e doze anos de idade. A insuficiência da medula óssea é a principal causa de morte, mas existem outras complicações sistêmicas. Apresentamos um relato de caso de uma criança do sexo feminino de dois anos de idade, que apresentou sinais e sintomas mucocutâneos cardinais de DC em idade precoce, e enfatizamos a importância de um monitoramento multidisciplinar do paciente.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Disqueratose Congénita]]></kwd>
<kwd lng="pt"><![CDATA[Telómeros.]]></kwd>
<kwd lng="en"><![CDATA[Dyskeratosis Congenita]]></kwd>
<kwd lng="en"><![CDATA[Telomere.]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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