<?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>2341-4545</journal-id>
<journal-title><![CDATA[GE-Portuguese Journal of Gastroenterology]]></journal-title>
<abbrev-journal-title><![CDATA[GE Port J Gastroenterol]]></abbrev-journal-title>
<issn>2341-4545</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Gastrenterologia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2341-45452022000100038</article-id>
<article-id pub-id-type="doi">10.1159/000513587</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors]]></article-title>
<article-title xml:lang="pt"><![CDATA[Hemocromatose e Xeroderma Pigmentosum: dois vizinhos (in)suspeitos]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Monte]]></surname>
<given-names><![CDATA[Filipa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Garrido]]></surname>
<given-names><![CDATA[Mónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guedes]]></surname>
<given-names><![CDATA[Tiago Pereira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Reis]]></surname>
<given-names><![CDATA[Joel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Porto]]></surname>
<given-names><![CDATA[Graça]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pedroto]]></surname>
<given-names><![CDATA[Isabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar (ICBAS) ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto (CHUP) Serviço de Gastrenterologia ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto (CHUP) Serviço de Dermatologia ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto (CHUP) Serviço de Hematologia ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Instituto de Biologia Molecular e Celular Centro de Genética Preditiva e Preventiva ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>28</day>
<month>02</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>28</day>
<month>02</month>
<year>2022</year>
</pub-date>
<volume>29</volume>
<numero>1</numero>
<fpage>38</fpage>
<lpage>44</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2341-45452022000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2341-45452022000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2341-45452022000100038&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract A 51-year-old woman, clinically diagnosed with Xeroderma pigmentosum (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1) genes, accountable for HH and the XP-V variant, respectively, a genetic test was offered and a rare variant of the POLH gene was identified. We report the first confirmed case, to our knowledge, of a patient diagnosed both with XP and HH, in whom two mutated neighbor genes - POLH and HFE - were identified, possibly the result of genetic linkage.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo Uma mulher de 51 anos, com antecedentes pessoais de Xeroderma pigmentosum (XP), apresentava, além de hiperpigmentação cutânea, alterações nas enzimas hepáticas, elevação da ferritina sérica e da saturação da transferrina, bem como alterações ecográficas compatíveis com doença hepática crónica. A realização de um teste genético permitiu confirmar a hipótese diagnóstica de Hemocromatose Hereditária (HH). Pela proximidade conhecida dos genes HFE (6p22.2) e POLH (6p21.1), responsáveis pela HH e pelo XP-V, respetivamente, foi realizado um teste genético que detetou um polimorfismo raro do gene POLH. Reportamos o primeiro caso de uma paciente diagnosticada com XP e HH, na qual foram identificados dois genes vizinhos mutados - POLH e HFE -, possivelmente como resultado de ligação genética.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Hereditary hemochromatosis]]></kwd>
<kwd lng="en"><![CDATA[HFE]]></kwd>
<kwd lng="en"><![CDATA[Xeroderma pigmentosum]]></kwd>
<kwd lng="en"><![CDATA[POLH]]></kwd>
<kwd lng="en"><![CDATA[Liver cirrhosis]]></kwd>
<kwd lng="pt"><![CDATA[Hemocromatose Hereditária]]></kwd>
<kwd lng="pt"><![CDATA[HFE]]></kwd>
<kwd lng="pt"><![CDATA[Xeroderma pigmentosum]]></kwd>
<kwd lng="pt"><![CDATA[POLH]]></kwd>
<kwd lng="pt"><![CDATA[Cirrose hepática]]></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[Kleijer]]></surname>
<given-names><![CDATA[WJ]]></given-names>
</name>
<name>
<surname><![CDATA[Laugel]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Berneburg]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Nardo]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Fawcett]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Gratchev]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.]]></article-title>
<source><![CDATA[DNA Repair (Amst).]]></source>
<year>2008</year>
<volume>7</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>744-50</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[Sethi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Lehmann]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
<name>
<surname><![CDATA[Fawcett]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Stefanini]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Jaspers]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Mullard]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions]]></article-title>
<source><![CDATA[Br J Dermatol.]]></source>
<year>2013</year>
<volume>169</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1279-87</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[Lim]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Sethi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Morley]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom]]></article-title>
<source><![CDATA[Ophthalmology]]></source>
<year>2017</year>
<volume>124</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>1652-61</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[Anttinen]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Koulu]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Nikoskelainen]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Portin]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Kurki]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Erkinjuntti]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neurological symptoms and natural course of xeroderma pigmentosum]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2008</year>
<volume>131</volume>
<page-range>1979-89</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[Hoesl]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Dietz]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Röcken]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Berneburg]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Vitamin D levels of XP-patients under stringent sun-protection]]></article-title>
<source><![CDATA[Eur J Dermatol.]]></source>
<year>2010</year>
<volume>20</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>457-60</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[Nemeth]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Tuttle]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Powelson]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Vaughn]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
<name>
<surname><![CDATA[Donovan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ward]]></surname>
<given-names><![CDATA[DM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization]]></article-title>
<source><![CDATA[Science]]></source>
<year>2004</year>
<volume>306</volume>
<numero>5704</numero>
<issue>5704</issue>
<page-range>2090-3</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="">
<collab>UpToDate</collab>
<source><![CDATA[Clinical manifestations and diagnosis of hereditary hemochromatosis]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Olynyk]]></surname>
<given-names><![CDATA[JK]]></given-names>
</name>
<name>
<surname><![CDATA[Cullen]]></surname>
<given-names><![CDATA[DJ]]></given-names>
</name>
<name>
<surname><![CDATA[Aquilia]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Rossi]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Summerville]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Powell]]></surname>
<given-names><![CDATA[LW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A populationbased study of the clinical expression of the hemochromatosis gene]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>1999</year>
<volume>341</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>718-24</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<collab>European Association For The Study Of The Liver.</collab>
<article-title xml:lang=""><![CDATA[EASL clinical practice guidelines for HFE hemochromatosis]]></article-title>
<source><![CDATA[J Hepatol]]></source>
<year>2010</year>
<volume>53</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>3-22</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Irving]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
<name>
<surname><![CDATA[Halliday]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Powell]]></surname>
<given-names><![CDATA[LW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Association between alcoholism and increased hepatic iron stores.]]></article-title>
<source><![CDATA[Alcohol Clin Exp Res]]></source>
<year>1988</year>
<volume>12</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>7-13</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bell]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Berg]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Undlien]]></surname>
<given-names><![CDATA[DE]]></given-names>
</name>
<name>
<surname><![CDATA[Distante]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Raknerud]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Heier]]></surname>
<given-names><![CDATA[HE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects.]]></article-title>
<source><![CDATA[Scand J Gastroenterol]]></source>
<year>2000</year>
<volume>35</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1301-7</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Powell]]></surname>
<given-names><![CDATA[LW]]></given-names>
</name>
<name>
<surname><![CDATA[Dixon]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Ramm]]></surname>
<given-names><![CDATA[GA]]></given-names>
</name>
<name>
<surname><![CDATA[Purdie]]></surname>
<given-names><![CDATA[DM]]></given-names>
</name>
<name>
<surname><![CDATA[Lincoln]]></surname>
<given-names><![CDATA[DJ]]></given-names>
</name>
<name>
<surname><![CDATA[Anderson]]></surname>
<given-names><![CDATA[GJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Screening for hemochromatosis in asymptomatic subjects with or without a family history]]></article-title>
<source><![CDATA[Arch Intern Med.]]></source>
<year>2006</year>
<volume>166</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>294-301</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stuenkel]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Menopausal Hormone Therapy: current Considerations]]></article-title>
<source><![CDATA[Endocrinol Metab Clin North Am]]></source>
<year>2015</year>
<volume>44</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>565-85</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bacon]]></surname>
<given-names><![CDATA[BR]]></given-names>
</name>
<name>
<surname><![CDATA[Adams]]></surname>
<given-names><![CDATA[PC]]></given-names>
</name>
<name>
<surname><![CDATA[Kowdley]]></surname>
<given-names><![CDATA[KV]]></given-names>
</name>
<name>
<surname><![CDATA[Powell]]></surname>
<given-names><![CDATA[LW]]></given-names>
</name>
<name>
<surname><![CDATA[Tavill]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
</person-group>
<collab>American Association for the Study of Liver Diseases</collab>
<article-title xml:lang=""><![CDATA[Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases]]></article-title>
<source><![CDATA[Hepatology]]></source>
<year>2011</year>
<volume>54</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>328-43</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Milman]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Pedersen]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[á Steig]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Byg]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Graudal]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Fenger]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinically overt hereditary hemochromatosis in Denmark 1948- 1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients.]]></article-title>
<source><![CDATA[Ann Hematol]]></source>
<year>2001</year>
<volume>80</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>737-44</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Niederau]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Fischer]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Pürschel]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Stremmel]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Häussinger]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Strohmeyer]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Long-term survival in patients with hereditary hemochromatosis]]></article-title>
<source><![CDATA[Gastroenterology]]></source>
<year>1996</year>
<volume>110</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>1107-19</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="">
<collab>Genetics Home Reference</collab>
<source><![CDATA[POLH gene]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="">
<collab>Genetics Home Reference</collab>
<source><![CDATA[HFE gene]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Montgomery]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Reuter]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Xeroderma pigmentosum: report of a mild case with histopathologic studies]]></article-title>
<source><![CDATA[Arch Derm Syphilol]]></source>
<year>1932</year>
<volume>26</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>256-67</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
