<?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>S2795-50012022000200147</article-id>
<article-id pub-id-type="doi">10.24875/pjd.m22000020</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Do not ignore multiple capillary malformations in a child]]></article-title>
<article-title xml:lang="pt"><![CDATA[Malformações capilares múltiplas em criança]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Calvão]]></surname>
<given-names><![CDATA[Joana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Maia-Almeida]]></surname>
<given-names><![CDATA[Pedro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos]]></surname>
<given-names><![CDATA[Leonor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Dermatovenereology Department of Coimbra University Hospital  ]]></institution>
<addr-line><![CDATA[Coimbra ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Genetic Department of Coimbra Pediatric Hospital  ]]></institution>
<addr-line><![CDATA[Coimbra ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>80</volume>
<numero>2</numero>
<fpage>147</fpage>
<lpage>150</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2795-50012022000200147&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2795-50012022000200147&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2795-50012022000200147&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal dominant disorder caused by heterozygous mutations in RASA1 and EPHB4 that associates multifocal capillary malformations (CMs) with an increased risk for fast-flow vascular malformations (FFVMs) which can cause life-threatening complications. We report the case of a 6-year-old girl with lip telangiectasia as well as multiple (&gt;10) erythematous to brownish irregular macules and patches on the face, neck, trunk, and superior extremities from the age of 18 months with no local or systemic complaints. Several family members had similar lesions. Genetic testing revealed a heterozygous mutation in the EPHB4 gene, confirming the diagnosis of CM-AVM type 2. EPHB4 gene mutation was also present in her father and brother. No associated arteriovenous malformations (AVMs) were found after a thorough evaluation by cardiology and neurology, neither in the patient nor in the closest relatives. The present case is a characteristic presentation of CM-AVM type 2 syndrome, with gradually appearance of multifocal CMs, lip telangiectasias, and a positive family history, without associated extracutaneous FFVMs. An increasing number of atypical CMs on the skin may be the only sign of CM-AVM and should alert the clinician to further investigate the presence of AVMs which can be life-threatening.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A Capillary malformation-arteriovenous malformation syndrome (CM-AVM) é uma doença autossómica dominante rara causada por mutações heterozigóticas nos genes RASA1 e EPHB4. Há malformações capilares (MCs) multifocais associadas a um risco aumentado de malformações vasculares de alto fluxo que podem causar complicações ameaçadoras de vida. Uma menina de 6 anos apresentou-se com telangiectasias labiais e múltiplas (&gt;10) máculas e manchas irregulares eritematosas-acastanhadas na face, pescoço, tronco e extremidades superiores, com início aos 18 meses de idade. Não havia queixas locais ou sistémicas associadas. O pai, irmão mais novo, a tia e avô paternos tinham lesões cutâneas semelhantes. O teste genético revelou uma mutação heterozigótica no gene EPHB4, confirmando o diagnóstico CM-AVM tipo 2. A doente foi avaliada por cardiologia e neurologia que excluíram malformações arteriovenosas (MAVs) associadas, e a doente mantem seguimento dermatológico e neurológico regulares, sem complicações até ao momento. O pai e o irmão foram também avaliados, tendo sido confirmada a mutação do gene EPHB4 e excluídas MAVs. O presente caso é uma apresentação clássica de CM-AVM tipo 2, com aparecimento gradual de MCs multifocais, telangiectasias labiais e história familiar positiva, sem MAVs extracutâneas associadas. Com este caso pretendemos chamar a atenção que um número crescente de MCs cutâneas atípicas pode ser o único sinal de CM-AVM, que deve alertar o médico para a exclusão de MAVs potencialmente fatais.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[CM-AVM]]></kwd>
<kwd lng="en"><![CDATA[Capillary malformation-arteriovenous malformation syndrome]]></kwd>
<kwd lng="en"><![CDATA[Capillary malformations]]></kwd>
<kwd lng="en"><![CDATA[Dermatology]]></kwd>
<kwd lng="en"><![CDATA[RASA 1]]></kwd>
<kwd lng="en"><![CDATA[EPHB4]]></kwd>
<kwd lng="pt"><![CDATA[CM-AVM]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome malformações capilares-malformações arteriovenosas]]></kwd>
<kwd lng="pt"><![CDATA[Malformações capilares]]></kwd>
<kwd lng="pt"><![CDATA[Dermatologia]]></kwd>
<kwd lng="pt"><![CDATA[RASA1]]></kwd>
<kwd lng="pt"><![CDATA[EPHB4]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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