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O estado geral de sa&#250;de do paciente era normal&#44; assim como os achados de resson&#226;ncia magn&#233;tica&#44; radiografia do esqueleto e exames laboratoriais de rotina&#46; A hist&#243;ria familiar era normal&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Sangue venoso foi coletado do paciente e de seus pais&#44; e biopsias da pele lesional e normal do paciente foram realizadas&#46; A histopatologia mostrou infund&#237;bulos foliculares dilatados e obstru&#237;dos e infiltrado linfo&#8208;histiocit&#225;rio perifolicular &#40;<a class="elsevierStyleCrossRef" href="#fig0005">fig&#46; 1</a>D&#41;&#46; O sequenciamento Sanger do gene <span class="elsevierStyleItalic">FGFR2</span> &#40;NM&#95;022970&#41; detectou a muta&#231;&#227;o heterozig&#243;tica c&#46;758C<span class="elsevierStyleHsp" style=""></span>&#62;G no &#233;xon 7 na pele afetada &#40;<a class="elsevierStyleCrossRef" href="#fig0005">fig&#46; 1</a>E&#41;&#44; que n&#227;o estava presente na pele n&#227;o afetada nem nos linf&#243;citos do paciente e de seus pais&#46; A altera&#231;&#227;o da sequ&#234;ncia representa muta&#231;&#227;o som&#225;tica em mosaico levando a altera&#231;&#227;o do amino&#225;cido Pro253Arg &#40;CCT253CGT&#41;&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Poucos casos semelhantes foram relatados sob nomes diferentes &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">tabela 1</a>&#41;&#46; Um paciente com muta&#231;&#227;o em mosaico do gene <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Ser252Trp&#41; apresentou sintomas cl&#237;nicos semelhantes&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> Kiritsi et al&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> relataram um caso grave com m&#250;ltiplos segmentos envolvidos&#46; Ma et al&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> descreveram caso semelhante&#44; mas n&#227;o confirmado por investiga&#231;&#227;o gen&#233;tica&#46; Al&#233;m disso&#44; alguns casos documentados de nevo comed&#244;nico com hipopigmenta&#231;&#227;o podem&#44; na verdade&#44; ser a mesma doen&#231;a&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">As les&#245;es acneiformes s&#227;o a principal caracter&#237;stica dessa les&#227;o&#46; A muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> em queratin&#243;citos pode induzir a hiperqueratiniza&#231;&#227;o do ducto pilosseb&#225;ceo e resposta inflamat&#243;ria&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> A muta&#231;&#227;o p&#46;Pro253Arg est&#225; localizada na regi&#227;o de liga&#231;&#227;o altamente conservada do <span class="elsevierStyleItalic">FGFR2</span> e leva &#224; ativa&#231;&#227;o do <span class="elsevierStyleItalic">FGFR2</span> dependente de ligante <span class="elsevierStyleItalic">in vivo</span> em virtude de uma altera&#231;&#227;o conformacional que aumenta a afinidade de liga&#231;&#227;o ao ligante&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Les&#245;es acneiformes extensas&#44; despigmenta&#231;&#227;o do cabelo&#44; pele e olhos foram descritos na s&#237;ndrome de Apert&#44; na qual dois ter&#231;os dos pacientes exibem muta&#231;&#227;o germinativa do <span class="elsevierStyleItalic">FGFR2</span>&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> As les&#245;es acneiformes responderam ao tratamento com isotretino&#237;na 20<span class="elsevierStyleHsp" style=""></span>mg&#47;dia&#44; como na s&#237;ndrome de Apert&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3&#44;6</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">A presen&#231;a de hipopigmenta&#231;&#227;o de in&#237;cio precoce &#233; outra caracter&#237;stica persistente relatada em quase todos os casos publicados&#44; exceto no primeiro caso&#44; em que n&#227;o foi mencionado se houve altera&#231;&#227;o da pigmenta&#231;&#227;o&#46; Ela pode ser causada pela falha na transfer&#234;ncia dos melanossomas dos melan&#243;citos para os queratin&#243;citos ou por hipopigmenta&#231;&#227;o p&#243;s&#8208;inflamat&#243;ria elevada mediada por IL&#8208;1&#945;&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Com base nos dados cl&#237;nicos e moleculares desses casos publicados&#44; os autores prop&#245;em aqui que nevo acneiforme hipopigmentado segmentar com muta&#231;&#227;o do FGRF2 pode ser uma descri&#231;&#227;o mais abrangente para essa condi&#231;&#227;o espec&#237;fica&#46; Al&#233;m disso&#44; sugerem que qualquer nevo comed&#244;nico at&#237;pico com hipopigmenta&#231;&#227;o e&#47;ou les&#227;o inflamat&#243;ria deve levar &#224; considera&#231;&#227;o desse tipo de les&#227;o e deve&#8208;se ter em mente que o mosaicismo p&#243;s&#8208;zig&#243;tico para uma doen&#231;a gen&#233;tica como a s&#237;ndrome de Apert tamb&#233;m pode afetar as g&#244;nadas&#44; resultando em risco de transmiss&#227;o &#224; descend&#234;ncia&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Suporte financeiro</span><p id="par0040" class="elsevierStylePara elsevierViewall">Nenhum&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Contribui&#231;&#227;o dos autores</span><p id="par0045" class="elsevierStylePara elsevierViewall">Yongyi Xie&#58; Contribui&#231;&#227;o com a obten&#231;&#227;o e interpreta&#231;&#227;o dos dados&#59; elabora&#231;&#227;o e reda&#231;&#227;o do manuscrito&#59; revis&#227;o do manuscrito&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Baoyi Liu&#58; Contribui&#231;&#227;o com a obten&#231;&#227;o e interpreta&#231;&#227;o dos dados&#59; elabora&#231;&#227;o e reda&#231;&#227;o do manuscrito&#59; revis&#227;o do manuscrito&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">Zhouwei Wu&#58; Aprova&#231;&#227;o da vers&#227;o final do manuscrito&#59; revis&#227;o do manuscrito&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflito de interesses</span><p id="par0060" class="elsevierStylePara elsevierViewall">Nenhum&#46;</p></span></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Como citar este artigo&#58; Xie Y&#44; Liu B&#44; Wu Z&#46; Segmental hypopigmented acneiform nevus with <span class="elsevierStyleItalic">FGFR2</span> gene mutation&#46; An Bras Dermatol&#46; 2023&#59;98&#58;710&#8211;2&#46;</p>"
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          "pt" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">&#40;A&#41; Nevo acneiforme sobre mancha hipopigmentada&#44; seguindo a linha de Blaschko&#46; &#40;B&#41; Comed&#245;es em detalhe&#44; p&#225;pulas e n&#243;dulos inflamat&#243;rios&#46; &#40;C&#41; Tamp&#227;o folicular&#44; pelos enrolados e hipomelanose no centro do fol&#237;culo na dermatoscopia &#40;aumento original de 10&#215;&#41;&#46; &#40;D&#41; Infund&#237;bulo folicular dilatado e obstru&#237;do e infiltrado linfo&#8208;histiocit&#225;rio perifolicular &#40;Hematoxilina &#38; eosina&#44; 100&#215;&#41;&#46; &#40;E&#41; Sequ&#234;ncia de DNA do gene <span class="elsevierStyleItalic">FGFR2</span> do nevo acneiforme e pele contralateral n&#227;o afetada do paciente &#233; mostrada&#46; A muta&#231;&#227;o som&#225;tica em heterozigose &#233; indicada pela seta</p>"
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                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Refer&#234;ncia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Idade no in&#237;cio&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Idade no diagn&#243;stico&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Sexo&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Distribui&#231;&#227;o das les&#245;es&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Morfologia das les&#245;es&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Muta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">12&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">14&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar &#250;nica &#40;bra&#231;o esquerdo&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Principalmente comed&#245;es com p&#225;pulas inflamat&#243;rias dispersas&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Ser252Trp&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">2&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">10&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">15&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar m&#250;ltipla &#40;t&#243;rax anterior&#44; tronco&#44; ombro e bra&#231;o direitos&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&#250;ltiplos comed&#245;es&#44; p&#225;pulas e p&#250;stulas inflamat&#243;rias com hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Ser252Trp&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">3&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">12&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar m&#250;ltipla &#40;lado esquerdo e direito do t&#243;rax&#44; tronco&#44; ombros&#44; bra&#231;os e hemi&#8208;face direita&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&#250;ltiplos comed&#245;es&#44; p&#225;pulas&#44; p&#250;stulas&#44; e n&#243;dulos inflamat&#243;rios&#44; cicatrizes com hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Pro253Arg&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Presente estudo&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">13&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar &#250;nica &#40;abdome esquerdo e dorso&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&#250;ltiplos comed&#245;es e p&#225;pulas&#44; p&#250;stulas e n&#243;dulos inflamat&#243;rios&#44; com hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Pro253Arg&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">4&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">25&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Segmentar &#250;nica &#40;t&#243;rax e dorso direitos&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t">Principalmente comed&#245;es com p&#225;pulas inflamat&#243;rias dispersas e hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">ND&nbsp;\t\t\t\t\t\t\n
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Cartas ‐ Caso clínico
Nevo acneiforme hipopigmentado segmentar com mutação no gene FGFR2
Yongyi Xiea,b, Baoyi Liua,b, Zhouwei Wua,b,
Corresponding author
zhouwei.wu@shgh.cn

Autor para correspondência.
a Departamento de Dermatologia, Shanghai General Hospital, Xangai, China
b Departamento de Dermatologia, Shanghai Jiao Tong University School of Medicine, Xangai, China
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">O nevo acneiforme segmentar associado a muta&#231;&#245;es no gene do receptor 2 do fator de crescimento de fibroblastos &#40;<span class="elsevierStyleItalic">FGFR2</span>&#44; do ingl&#234;s <span class="elsevierStyleItalic">fibroblast growth factor receptor</span><span class="elsevierStyleItalic">2</span>&#41; foi relatado pela primeira vez por Munro e Wilkie&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> Raros casos semelhantes foram publicados com nomenclaturas diferentes&#44; tornando esse tema confuso&#46; Aqui&#44; os autores relatam um novo caso com muta&#231;&#227;o <span class="elsevierStyleItalic">missense</span> no gene <span class="elsevierStyleItalic">FGFR2</span> e resumem as caracter&#237;sticas dessa condi&#231;&#227;o espec&#237;fica&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Paciente chin&#234;s&#44; 13 anos de idade&#44; sexo masculino&#44; apresentava mancha hipopigmentada segmentar no abdome esquerdo e na regi&#227;o dorsal&#44; seguindo a linha de Blaschko&#44; desde o nascimento&#46; Aos 10 anos de idade&#44; desenvolveram&#8208;se comed&#245;es&#44; p&#225;pulas vermelhas dispersas&#44; p&#250;stulas e n&#243;dulos sobre a mancha hipopigmentada &#40;<a class="elsevierStyleCrossRef" href="#fig0005">fig&#46; 1</a>A&#8208;B&#41;&#46; A dermatoscopia identificou &#243;stios foliculares dilatados com tamp&#245;es de queratina&#44; pelos terminais pouco pigmentados&#44; com padr&#227;o de crescimento enrolado anormal e hipomelanose no centro do fol&#237;culo &#40;<a class="elsevierStyleCrossRef" href="#fig0005">fig&#46; 1</a>C&#41;&#46; Durante a primeira inf&#226;ncia&#44; o paciente apresentou pequeno atraso no desenvolvimento intelectual e d&#233;ficit de aten&#231;&#227;o&#44; mas nenhuma evid&#234;ncia s&#243;lida de defici&#234;ncia intelectual foi encontrada quando ele foi examinado&#46; O estado geral de sa&#250;de do paciente era normal&#44; assim como os achados de resson&#226;ncia magn&#233;tica&#44; radiografia do esqueleto e exames laboratoriais de rotina&#46; A hist&#243;ria familiar era normal&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Sangue venoso foi coletado do paciente e de seus pais&#44; e biopsias da pele lesional e normal do paciente foram realizadas&#46; A histopatologia mostrou infund&#237;bulos foliculares dilatados e obstru&#237;dos e infiltrado linfo&#8208;histiocit&#225;rio perifolicular &#40;<a class="elsevierStyleCrossRef" href="#fig0005">fig&#46; 1</a>D&#41;&#46; O sequenciamento Sanger do gene <span class="elsevierStyleItalic">FGFR2</span> &#40;NM&#95;022970&#41; detectou a muta&#231;&#227;o heterozig&#243;tica c&#46;758C<span class="elsevierStyleHsp" style=""></span>&#62;G no &#233;xon 7 na pele afetada &#40;<a class="elsevierStyleCrossRef" href="#fig0005">fig&#46; 1</a>E&#41;&#44; que n&#227;o estava presente na pele n&#227;o afetada nem nos linf&#243;citos do paciente e de seus pais&#46; A altera&#231;&#227;o da sequ&#234;ncia representa muta&#231;&#227;o som&#225;tica em mosaico levando a altera&#231;&#227;o do amino&#225;cido Pro253Arg &#40;CCT253CGT&#41;&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Poucos casos semelhantes foram relatados sob nomes diferentes &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">tabela 1</a>&#41;&#46; Um paciente com muta&#231;&#227;o em mosaico do gene <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Ser252Trp&#41; apresentou sintomas cl&#237;nicos semelhantes&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> Kiritsi et al&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> relataram um caso grave com m&#250;ltiplos segmentos envolvidos&#46; Ma et al&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> descreveram caso semelhante&#44; mas n&#227;o confirmado por investiga&#231;&#227;o gen&#233;tica&#46; Al&#233;m disso&#44; alguns casos documentados de nevo comed&#244;nico com hipopigmenta&#231;&#227;o podem&#44; na verdade&#44; ser a mesma doen&#231;a&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">As les&#245;es acneiformes s&#227;o a principal caracter&#237;stica dessa les&#227;o&#46; A muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> em queratin&#243;citos pode induzir a hiperqueratiniza&#231;&#227;o do ducto pilosseb&#225;ceo e resposta inflamat&#243;ria&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> A muta&#231;&#227;o p&#46;Pro253Arg est&#225; localizada na regi&#227;o de liga&#231;&#227;o altamente conservada do <span class="elsevierStyleItalic">FGFR2</span> e leva &#224; ativa&#231;&#227;o do <span class="elsevierStyleItalic">FGFR2</span> dependente de ligante <span class="elsevierStyleItalic">in vivo</span> em virtude de uma altera&#231;&#227;o conformacional que aumenta a afinidade de liga&#231;&#227;o ao ligante&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Les&#245;es acneiformes extensas&#44; despigmenta&#231;&#227;o do cabelo&#44; pele e olhos foram descritos na s&#237;ndrome de Apert&#44; na qual dois ter&#231;os dos pacientes exibem muta&#231;&#227;o germinativa do <span class="elsevierStyleItalic">FGFR2</span>&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> As les&#245;es acneiformes responderam ao tratamento com isotretino&#237;na 20<span class="elsevierStyleHsp" style=""></span>mg&#47;dia&#44; como na s&#237;ndrome de Apert&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3&#44;6</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">A presen&#231;a de hipopigmenta&#231;&#227;o de in&#237;cio precoce &#233; outra caracter&#237;stica persistente relatada em quase todos os casos publicados&#44; exceto no primeiro caso&#44; em que n&#227;o foi mencionado se houve altera&#231;&#227;o da pigmenta&#231;&#227;o&#46; Ela pode ser causada pela falha na transfer&#234;ncia dos melanossomas dos melan&#243;citos para os queratin&#243;citos ou por hipopigmenta&#231;&#227;o p&#243;s&#8208;inflamat&#243;ria elevada mediada por IL&#8208;1&#945;&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Com base nos dados cl&#237;nicos e moleculares desses casos publicados&#44; os autores prop&#245;em aqui que nevo acneiforme hipopigmentado segmentar com muta&#231;&#227;o do FGRF2 pode ser uma descri&#231;&#227;o mais abrangente para essa condi&#231;&#227;o espec&#237;fica&#46; Al&#233;m disso&#44; sugerem que qualquer nevo comed&#244;nico at&#237;pico com hipopigmenta&#231;&#227;o e&#47;ou les&#227;o inflamat&#243;ria deve levar &#224; considera&#231;&#227;o desse tipo de les&#227;o e deve&#8208;se ter em mente que o mosaicismo p&#243;s&#8208;zig&#243;tico para uma doen&#231;a gen&#233;tica como a s&#237;ndrome de Apert tamb&#233;m pode afetar as g&#244;nadas&#44; resultando em risco de transmiss&#227;o &#224; descend&#234;ncia&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Suporte financeiro</span><p id="par0040" class="elsevierStylePara elsevierViewall">Nenhum&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Contribui&#231;&#227;o dos autores</span><p id="par0045" class="elsevierStylePara elsevierViewall">Yongyi Xie&#58; Contribui&#231;&#227;o com a obten&#231;&#227;o e interpreta&#231;&#227;o dos dados&#59; elabora&#231;&#227;o e reda&#231;&#227;o do manuscrito&#59; revis&#227;o do manuscrito&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Baoyi Liu&#58; Contribui&#231;&#227;o com a obten&#231;&#227;o e interpreta&#231;&#227;o dos dados&#59; elabora&#231;&#227;o e reda&#231;&#227;o do manuscrito&#59; revis&#227;o do manuscrito&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">Zhouwei Wu&#58; Aprova&#231;&#227;o da vers&#227;o final do manuscrito&#59; revis&#227;o do manuscrito&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflito de interesses</span><p id="par0060" class="elsevierStylePara elsevierViewall">Nenhum&#46;</p></span></span>"
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                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">12&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">14&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar &#250;nica &#40;bra&#231;o esquerdo&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Principalmente comed&#245;es com p&#225;pulas inflamat&#243;rias dispersas&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Ser252Trp&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">2&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">10&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">15&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar m&#250;ltipla &#40;t&#243;rax anterior&#44; tronco&#44; ombro e bra&#231;o direitos&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&#250;ltiplos comed&#245;es&#44; p&#225;pulas e p&#250;stulas inflamat&#243;rias com hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Ser252Trp&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">3&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">12&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar m&#250;ltipla &#40;lado esquerdo e direito do t&#243;rax&#44; tronco&#44; ombros&#44; bra&#231;os e hemi&#8208;face direita&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&#250;ltiplos comed&#245;es&#44; p&#225;pulas&#44; p&#250;stulas&#44; e n&#243;dulos inflamat&#243;rios&#44; cicatrizes com hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Pro253Arg&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Presente estudo&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">13&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar &#250;nica &#40;abdome esquerdo e dorso&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&#250;ltiplos comed&#245;es e p&#225;pulas&#44; p&#250;stulas e n&#243;dulos inflamat&#243;rios&#44; com hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Muta&#231;&#227;o no <span class="elsevierStyleItalic">FGFR2</span> &#40;p&#46;Pro253Arg&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">4&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">25&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Masculino&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Segmentar &#250;nica &#40;t&#243;rax e dorso direitos&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Principalmente comed&#245;es com p&#225;pulas inflamat&#243;rias dispersas e hipopigmenta&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ND&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
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      "seccion" => array:1 [
        0 => array:2 [
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                      "titulo" => "Unilateral keratosis pilaris occurring on linear hypopigmentation patches&#58; a new variant of keratosis pilaris in an Asian&#63;"
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                          "etal" => true
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Article information
ISSN: 26662752
Original language: Portuguese
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Idiomas
Anais Brasileiros de Dermatologia
en pt
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