<?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>S2795-50012024000200133</article-id>
<article-id pub-id-type="doi">10.24875/pjdv.23000089</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[A new disorder to keep in mind: VEXAS syndrome]]></article-title>
<article-title xml:lang="pt"><![CDATA[Uma nova entidade a ter em consideração: síndrome VEXAS]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Freitas]]></surname>
<given-names><![CDATA[Egídio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nogueira]]></surname>
<given-names><![CDATA[Miguel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lé]]></surname>
<given-names><![CDATA[Ana M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Coelho]]></surname>
<given-names><![CDATA[André]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lobo]]></surname>
<given-names><![CDATA[Inês]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário de Santo António Department of Dermatology ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário de Santo António Department of Pathological Anatomy ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>06</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>06</month>
<year>2024</year>
</pub-date>
<volume>82</volume>
<numero>2</numero>
<fpage>133</fpage>
<lpage>137</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2795-50012024000200133&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2795-50012024000200133&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2795-50012024000200133&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), which has recently been described, is a monogenic autoinflammatory syndrome that primarily affects males and has its onset in adulthood. The disease is caused by somatic mutations in the UBA1 gene (ubiquitin-like modifier activating enzyme 1), which is responsible for cellular processes, particularly in maintaining protein homeostasis. It presents with severe and progressive systemic inflammation that is resistant to therapy. Common symptoms include fever and constitutional syndrome, along with hematological manifestations such as macrocytic anemia, other cytopenias, myelodysplastic syndrome, and characteristic vacuolization of myeloid and erythroid cells. Additional symptoms may involve the skin (neutrophilic dermatosis), lungs, chondritis, and vasculitis. Thus, in a case where a male patient presents with recurrent neutrophilic dermatosis unresponsive to treatment, macrocytic anemia, and systemic autoinflammatory manifestations, it is important to suspect this newly identified condition and proceed with a confirmatory genetic test.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A síndrome VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), recentemente descrita, consiste numa síndrome autoinflamatória monogénica de início na idade adulta que afecta quase exclusivamente o sexo masculino. A doença é causada por mutações somáticas no gene UBA1 (ubiquitin-like modifier activating enzyme 1), responsável por processos celulares, principalmente pela manutenção da homeostase proteica. Manifesta-se com inflamação sistémica, muitas vezes grave, progressiva e refractária à terapêutica. Cursa frequentemente com febre e síndrome constitucional associada a alterações hematológicas (anemia macrocítica e outras citopenias, além de síndrome mielodisplásico e vacuolização característica de células mielóides e eritróides), cutâneas (dermatose neutrofílica), pulmonares, condrite e vasculite. Deste modo, e qual como se verificou neste caso, na presença de um doente do sexo masculino, com dermatose neutrofilica recidivante e refratária ao tratamento, anemia macrocitica e com manifestações autoinflamatórias e sistémicas, devemos suspeitar desta nova entidade e realizar o teste genético confirmatório.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[VEXAS syndrome]]></kwd>
<kwd lng="en"><![CDATA[UBA1 gene]]></kwd>
<kwd lng="en"><![CDATA[Neutrophilic dermatosis]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome VEXAS]]></kwd>
<kwd lng="pt"><![CDATA[Gene UBA1]]></kwd>
<kwd lng="pt"><![CDATA[Dermatose neutrofílica]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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