<?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>S2182-23952021000400060</article-id>
<article-id pub-id-type="doi">10.29021/spdv.79.4.1409</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease]]></article-title>
<article-title xml:lang="pt"><![CDATA[Duas Novas Mutações do Gene ATP2C1 em Doentes Portuguesas com Doença de Hailey-Hailey]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Antunes-Duarte]]></surname>
<given-names><![CDATA[Sofia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mendonça-Sanches]]></surname>
<given-names><![CDATA[Maria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pimenta]]></surname>
<given-names><![CDATA[Rita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Coutinho]]></surname>
<given-names><![CDATA[Ana Margarida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silveira]]></surname>
<given-names><![CDATA[Catarina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soares-de-Almeida]]></surname>
<given-names><![CDATA[Luís]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Filipe]]></surname>
<given-names><![CDATA[Paulo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar e Universitário de Lisboa Norte Hospital de Santa Maria Serviço de Dermatologia]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidade de Lisboa Faculdade de Medicina GenoMed - Diagnósticos de Medicina Molecular SA, Instituto de Medicina Molecular]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidade de Lisboa Faculdade de Medicina Instituto de Medicina Molecular]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>79</volume>
<numero>4</numero>
<fpage>60</fpage>
<lpage>63</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2182-23952021000400060&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2182-23952021000400060&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2182-23952021000400060&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO A doença de Hailey-Hailey (DHH) é uma dermatose acantolítica autossómica dominante rara. Clinicamente, caracteriza-se por episódios recorrentes de vesículas, erosões e placas eritematosas descamativas envolvendo áreas intertriginosas, com início após a puberdade, geralmente na terceira ou quarta década de vida. Em 2000, mutações no gene ATP2C1, no cromossoma 3q22.1, que codifica a proteína 1 da via secretora humana Ca2+/Mn2+-ATPase (hSPCA1), foram identificadas como a causa da DHH. Relatamos a identificação de duas novas mutações do gene ATP2C1 em duas doentes portuguesas, expandido o espectro de mutações ATP2C1 subjacentes à DHH e fornecendo informações úteis para o aconselhamento genético.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Calcium-Transporting ATPases/genetics]]></kwd>
<kwd lng="en"><![CDATA[Frameshift Mutation]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Pemphigus, Benign Familial/diagnosis]]></kwd>
<kwd lng="en"><![CDATA[Pemphigus, Benign Familial/genetics.]]></kwd>
<kwd lng="pt"><![CDATA[ATPases Transportadoras de Cálcio/genética]]></kwd>
<kwd lng="pt"><![CDATA[Mutação]]></kwd>
<kwd lng="pt"><![CDATA[Mutação da Fase de Leitura]]></kwd>
<kwd lng="pt"><![CDATA[Pênfigo Familiar Benigno/diagnós-tico]]></kwd>
<kwd lng="pt"><![CDATA[Pênfigo Familiar Benigno/genética.]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hailey]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hailey]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Familial benign chronic pemphigus Report of 13 cases in 4 generations of a family and report of 9 additional cases in 4 generations of a family]]></article-title>
<source><![CDATA[Arch Dermatol Syphilol]]></source>
<year>1939</year>
<volume>39</volume>
<page-range>679-85</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Deng]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Xiao]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The role of the ATP2C1 gene in Hailey-Hailey disease]]></article-title>
<source><![CDATA[Cell Mol Life Sci]]></source>
<year>2017</year>
<volume>74</volume>
<page-range>3687-96</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[XQ]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[HZ]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[BX]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[YS]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[JB]]></given-names>
</name>
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[LL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease]]></article-title>
<source><![CDATA[Clin Exp Dermatol]]></source>
<year>2006</year>
<volume>31</volume>
<page-range>702-5</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Bonifas]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Beech]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Bench]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Shigihara]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Ogawa]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2000</year>
<volume>24</volume>
<page-range>61-5</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
<name>
<surname><![CDATA[Datto]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Duncavage]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
<name>
<surname><![CDATA[Kulkarni]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lindeman]]></surname>
<given-names><![CDATA[NI]]></given-names>
</name>
<name>
<surname><![CDATA[Roy]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Standards and Gui-delines for the Interpretation and Reporting of Sequence Variants in Cancer A Joint Con-sensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists]]></article-title>
<source><![CDATA[J Mol Diagn]]></source>
<year>2017</year>
<volume>19</volume>
<page-range>4-23</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Xiao]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Huang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Xiong]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel splice-site muta-tion in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease]]></article-title>
<source><![CDATA[J Cell Biochem]]></source>
<year>2019</year>
<volume>120</volume>
<page-range>3630-6</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Micaroni]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Giacchetti]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Plebani]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Xiao]]></surname>
<given-names><![CDATA[GG]]></given-names>
</name>
<name>
<surname><![CDATA[Federici]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking]]></article-title>
<source><![CDATA[Cell Death Dis]]></source>
<year>2016</year>
<volume>7</volume>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Jia]]></surname>
<given-names><![CDATA[WX]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[WL]]></given-names>
</name>
<name>
<surname><![CDATA[Zhao]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[WR]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[YD]]></given-names>
</name>
<name>
<surname><![CDATA[Ma]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease]]></article-title>
<source><![CDATA[Postepy Dermatol Alergol]]></source>
<year>2019</year>
<volume>36</volume>
<page-range>767-71</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
