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Entry
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- #615726 - PACHYONYCHIA CONGENITA 3; PC3
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- OMIM
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<p>
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<span class="h4">#615726</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/615726"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS167200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PACHYONYCHIA CONGENITA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2169&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1280/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615726[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2309" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://omia.org/OMIA000394/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2309<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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615726
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PACHYONYCHIA CONGENITA 3; PC3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/12/409?start=-3&limit=10&highlight=409">
|
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12q13.13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Pachyonychia congenita 3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/615726"> 615726 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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KRT6A
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/148041"> 148041 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/615726" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<a href="/phenotypicSeries/PS167200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/615726" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615726" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Conjunctival hyperkeratosis (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393882</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dry, chapped lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393883</a>]</span><br /> -
|
|
Oral leukokeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414603003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414603003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K13.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K13.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023532</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002745</a>]</span><br /> -
|
|
Tongue leukokeratosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229145</a>]</span><br /> -
|
|
Fissured tongue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52368004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52368004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/529.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">529.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000221</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000221</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Palmar keratoderma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393884</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Plantar keratoderma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809837</a>]</span><br /> -
|
|
Plantar fissures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393885</a>]</span><br /> -
|
|
Plantar pain <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240777</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Palmoplantar keratoderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/706885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">706885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000982</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000982</a>]</span><br /> -
|
|
Follicular hyperkeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238629004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238629004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81845009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81845009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238625005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238625005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0334013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0334013</a>, <a href="https://bioportal.bioontology.org/search?q=C0549151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549151</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007502</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007502</a>]</span><br /> -
|
|
Pilosebaceous cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393886</a>]</span><br /> -
|
|
Steatocystoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/784048001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">784048001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1314743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1314743</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pachyonychia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111982005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111982005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q84.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q84.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240444</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=389e323ef3e7c6ce31e701acebebd67a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/bNcPKEz__HbdacWsFuSGyvFZXdDEKC5R-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=389e323ef3e7c6ce31e701acebebd67a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
</div>
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|
|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> VOICE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hoarse voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50219008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50219008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the keratin 6A gene (KRT6A, <a href="/entry/148041#0001">148041.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Pachyonychia congenita
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- <a href="/phenotypicSeries/PS167200">PS167200</a>
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- 5 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/407?start=-3&limit=10&highlight=407"> 12q13.13 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615728"> Pachyonychia congenita 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615728"> 615728 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148042"> KRT6B </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148042"> 148042 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/409?start=-3&limit=10&highlight=409"> 12q13.13 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615726"> Pachyonychia congenita 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615726"> 615726 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148041"> KRT6A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148041"> 148041 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/550?start=-3&limit=10&highlight=550"> 17q21.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/167200"> Pachyonychia congenita 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/167200"> 167200 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148067"> KRT16 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148067"> 148067 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/551?start=-3&limit=10&highlight=551"> 17q21.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/167210"> Pachyonychia congenita 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/167210"> 167210 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148069"> KRT17 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148069"> 148069 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Not Mapped
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/260130"> Pachyonychia congenita, autosomal recessive </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/260130"> 260130 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/260130"> PACHYR </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/260130"> 260130 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; <a href="/entry/148041">148041</a>) on chromosome 12q13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by <a href="#13" class="mim-tip-reference" title="Sybert, V. P. <strong>Genetic Skin Disorders. (2nd ed.)</strong> New York: Oxford Univ. Press (pub.) 2010. Pp. 248-253."None>Sybert, 2010</a>; <a href="#4" class="mim-tip-reference" title="Eliason, M. J., Leachman, S. A., Feng, B., Schwartz, M. E., Hansen, C. D. <strong>A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.</strong> J. Am. Acad. Derm. 67: 680-686, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22264670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22264670</a>] [<a href="https://doi.org/10.1016/j.jaad.2011.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22264670">Eliason et al., 2012</a>; <a href="#7" class="mim-tip-reference" title="McLean, W. H. I., Hansen, C. D., Eliason, M. J., Smith, F. J. D. <strong>The phenotypic and molecular genetic features of pachyonychia congenita.</strong> J. Invest. Derm. 131: 1015-1017, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21430705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21430705</a>] [<a href="https://doi.org/10.1038/jid.2011.59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21430705">McLean et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22264670+21430705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of pachyonychia congenita, see <a href="/entry/167200">167200</a>.</p><p><strong><em>Historical Classification of Pachyonychia Congenita</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. <strong>Syndromes of the Head and Neck. (2nd ed.)</strong> New York: McGraw-Hill (pub.) 1976. Pp. 600-603."None>Gorlin et al. (1976)</a> suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.</p><p><a href="#10" class="mim-tip-reference" title="Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I. <strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong> Hum. Molec. Genet. 7: 1143-1148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618173</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618173">Smith et al. (1998)</a> stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (<a href="/entry/184500">184500</a>) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of a study of 13 patients with PC type 1 or type 2, <a href="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</h4>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The form of PC caused by mutation in the KRT6A gene, here designated PC3, has also been designated PC-6a (<a href="#4" class="mim-tip-reference" title="Eliason, M. J., Leachman, S. A., Feng, B., Schwartz, M. E., Hansen, C. D. <strong>A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.</strong> J. Am. Acad. Derm. 67: 680-686, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22264670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22264670</a>] [<a href="https://doi.org/10.1016/j.jaad.2011.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22264670">Eliason et al., 2012</a>) and PC-K6a (<a href="#9" class="mim-tip-reference" title="Shah, S., Boen, M., Kenner-Bell, B., Schwartz, M., Rademaker, A., Paller, A. S. <strong>Pachyonychia congenita in pediatric patients: natural history, features, and impact.</strong> JAMA Derm. 150: 146-153, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24132595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24132595</a>] [<a href="https://doi.org/10.1001/jamadermatol.2013.6448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24132595">Shah et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22264670+24132595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<p><a href="#2" class="mim-tip-reference" title="Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J. <strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong> Nature Genet. 10: 363-365, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545493</a>] [<a href="https://doi.org/10.1038/ng0795-363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545493">Bowden et al. (1995)</a> identified a Slovenian family in which a grandfather, father, and daughter had pachyonychia congenita of the Jadassohn-Lewandowsky type. The father and daughter had classic changes with thickened nails, palmoplantar keratoderma, and leukokeratosis of the tongue. The grandfather had only minor nail changes and mild keratoderma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N. <strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong> Europ. J. Derm. 22: 476-480, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>] [<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22668561">Du et al. (2012)</a> reported a 32-year-old Chinese woman with toenail thickening, plantar hyperkeratosis with fissuring, and mild focal palmar hyperkeratosis but no fingernail changes. She also exhibited oral leukokeratosis, chapped lips, and fissured tongue. Histopathology of the plantar lesion showed hyperkeratosis, acanthosis, and a moderate increase in the granular layer with minimal lymphocytic infiltrate in the upper dermis. Her 7-year-old daughter had focal plantar hyperkeratosis, fissured tongue, and gingivitis, but no nail or hand involvement. Both patients reported hyperhidrosis of the hands and feet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Goldberg, I., Mashiah, J., Kutz, A., Derowe, A., Warshauer, E., Schwartz, M. E., Smith, F., Sprecher, E., Hansen, C. D. <strong>Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.</strong> Brit. J. Derm. 182: 708-713, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31777952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31777952</a>] [<a href="https://doi.org/10.1111/bjd.18742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31777952">Goldberg et al. (2020)</a> presented a case series of 9 children with PC3 and symptomatic mucosal involvement. Oral leukokeratosis presented early in the neonatal period. Seven patients had painful feeding as infants; 4 were diagnosed with failure to thrive, 3 of whom required a feeding tube. One patient (case 8) was diagnosed with oral and airway leukokeratosis with severe vocal cord involvement. He died at age 4 as a result of acute laryngitis that led to cardiorespiratory arrest. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31777952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abdollahimajd, F., Rajabi, F., Shahidi-Dadras, M., Saket, S., Youssefian, L., Vahidnezhad, H., Uitto, J. <strong>Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.</strong> Brit. J. Derm. 181: 584-586, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30307612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30307612</a>] [<a href="https://doi.org/10.1111/bjd.17276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30307612">Abdollahimajd et al. (2019)</a> reported an 8-year-old girl with PC3 who had painful plantar hyperkeratosis and thickened nails with a progressive course since infancy. She also had follicular hyperkeratosis and buccal leukokeratosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30307612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Samuelov, L., Smith, F. J. D., Hansen, C. D., Sprecher, E. <strong>Revisiting pachyonychia congenita: a case-cohort study of 815 patients.</strong> Brit. J. Derm. 182: 738-746, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31823354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31823354</a>] [<a href="https://doi.org/10.1111/bjd.18794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31823354">Samuelov et al. (2020)</a> analyzed 815 individuals with confirmed keratin mutations registered in the International Pachyonychia Congenita Research Registry to delineate clinical features and phenotype-genotype correlations. Mutations in KRT6A accounted for 41% of all cases. PC3 was associated with oral leukokeratosis, hoarse voice, younger age of onset, and highest number of fingernail and toenail involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31823354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Abdollahimajd, F., Rajabi, F., Shahidi-Dadras, M., Saket, S., Youssefian, L., Vahidnezhad, H., Uitto, J. <strong>Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.</strong> Brit. J. Derm. 181: 584-586, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30307612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30307612</a>] [<a href="https://doi.org/10.1111/bjd.17276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30307612">Abdollahimajd et al. (2019)</a> treated an 8-year-old girl with PC3 with oral rosuvastatin. After 6 months of treatment, the girl reported a marked decrease in plantar pain. Physical examination revealed partial improvement with fewer scales and fissures. Ultrasound demonstrated a 3.6-mm reduction in plantar callous thickness, a 23.4% decrease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30307612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of PC3 in the family reported by <a href="#2" class="mim-tip-reference" title="Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J. <strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong> Nature Genet. 10: 363-365, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545493</a>] [<a href="https://doi.org/10.1038/ng0795-363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545493">Bowden et al. (1995)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a Slovenian family segregating PC3, <a href="#2" class="mim-tip-reference" title="Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J. <strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong> Nature Genet. 10: 363-365, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7545493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7545493</a>] [<a href="https://doi.org/10.1038/ng0795-363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7545493">Bowden et al. (1995)</a> identified heterozygosity for a 3-bp deletion in the KRT6A gene (Asn171del; <a href="/entry/148041#0001">148041.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7545493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> identified 3 novel mutations (<a href="/entry/148041#0002">148041.0002</a>-<a href="/entry/148041#0004">148041.0004</a>) and 2 previously identified mutations (see, e.g., <a href="/entry/148041#0001">148041.0001</a>) in the KRT6A gene in patients with pachyonychia congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I. <strong>The genetic basis of pachyonychia congenita.</strong> J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16250206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16250206</a>] [<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16250206">Smith et al. (2005)</a> identified keratin mutations in 30 probands from the International Pachyonychia Congenita Research Registry, 17 of whom had mutations in the KRT6A gene (see, e.g., <a href="/entry/148041#0001">148041.0001</a> and <a href="/entry/148041#0005">148041.0005</a>-<a href="/entry/148041#0008">148041.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16250206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 32-year-old Chinese woman with pachyonychia congenita, <a href="#3" class="mim-tip-reference" title="Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N. <strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong> Europ. J. Derm. 22: 476-480, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22668561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22668561</a>] [<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22668561">Du et al. (2012)</a> identified heterozygosity for a splice site mutation in the KRT6A gene (<a href="/entry/148041#0009">148041.0009</a>). Her 7-year-old daughter, who had only focal plantar hyperkeratosis with no nail or hand involvement, was also heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22668561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D. <strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong> Brit. J. Derm. 171: 343-355, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24611874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24611874</a>] [<a href="https://doi.org/10.1111/bjd.12958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24611874">Wilson et al. (2014)</a> identified 18 different mutations in KRT6A in 31 families recruited through the International Pachyonychia Congenita Research Registry. The most common mutation was Asn172del, found in 10 families. Four mutations, including a nonsense mutation (E461X; <a href="/entry/148041#0010">148041.0010</a>), were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24611874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Spaunhurst, K. M., Hogendorf, A. M., Smith, F. J. D., Lingala, B., Schwartz, M. E., Cywinska-Bernas, A., Zeman, K. J., Tang, J. Y. <strong>Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.</strong> Brit. J. Derm. 166: 875-878, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22098151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22098151</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2011.10745.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22098151">Spaunhurst et al. (2012)</a> studied the clinical characteristics of patients who would previously have been diagnosed with the Jadassohn-Lewandowsky type of PC: 89 with PC3, caused by mutation in KRT6A, and 68 with PC1 (<a href="/entry/167200">167200</a>), caused by mutation in KRT16 (<a href="/entry/148070">148070</a>). Patients with PC3 and PC1 were found to have distinct phenotypic differences. Patients with PC3 experienced earlier onset and more extensive nail disease and had a higher prevalence of oral leukokeratosis, hoarse voice, cyst formations and follicular hyperkeratosis compared to patients with PC1. Both groups experienced similar plantar keratoderma and plantar pain. Patients with PC1 more commonly reported palmar keratoderma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22098151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.</strong>
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[<a href="https://doi.org/10.1111/bjd.17276" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0795-363" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1684/ejd.2012.1773" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.jaad.2011.12.009" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/bjd.18742" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/jid.2011.59" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/bjd.18794" target="_blank">Full Text</a>]
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Shah, S., Boen, M., Kenner-Bell, B., Schwartz, M., Rademaker, A., Paller, A. S.
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<strong>Pachyonychia congenita in pediatric patients: natural history, features, and impact.</strong>
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[<a href="https://doi.org/10.1001/jamadermatol.2013.6448" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/7.7.1143" target="_blank">Full Text</a>]
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Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I.
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[<a href="https://doi.org/10.1111/j.1087-0024.2005.10204.x" target="_blank">Full Text</a>]
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Spaunhurst, K. M., Hogendorf, A. M., Smith, F. J. D., Lingala, B., Schwartz, M. E., Cywinska-Bernas, A., Zeman, K. J., Tang, J. Y.
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<strong>Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.</strong>
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Brit. J. Derm. 166: 875-878, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22098151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22098151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22098151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.2011.10745.x" target="_blank">Full Text</a>]
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Sybert, V. P.
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<strong>Genetic Skin Disorders. (2nd ed.)</strong>
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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
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<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank">Full Text</a>]
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Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D.
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<strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24611874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24611874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24611874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/bjd.12958" target="_blank">Full Text</a>]
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Kelly A. Przylepa - updated : 03/19/2020
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Marla J. F. O'Neill - updated : 9/18/2014
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carol : 03/19/2020<br>carol : 07/09/2016<br>carol : 9/18/2014<br>carol : 7/2/2014<br>carol : 4/11/2014<br>carol : 4/10/2014
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<span class="mim-font">
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<strong>#</strong> 615726
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<h3>
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PACHYONYCHIA CONGENITA 3; PC3
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<strong>ORPHA:</strong> 2309;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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12q13.13
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<span class="mim-font">
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Pachyonychia congenita 3
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<span class="mim-font">
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615726
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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KRT6A
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<span class="mim-font">
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148041
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13.</p>
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<strong>Description</strong>
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</div>
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<p>Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). </p><p>For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200.</p><p><strong><em>Historical Classification of Pachyonychia Congenita</em></strong></p><p>
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Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.</p><p>Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium. </p><p>On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. </p>
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<strong>Nomenclature</strong>
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</h4>
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<p>The form of PC caused by mutation in the KRT6A gene, here designated PC3, has also been designated PC-6a (Eliason et al., 2012) and PC-K6a (Shah et al., 2014). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>Bowden et al. (1995) identified a Slovenian family in which a grandfather, father, and daughter had pachyonychia congenita of the Jadassohn-Lewandowsky type. The father and daughter had classic changes with thickened nails, palmoplantar keratoderma, and leukokeratosis of the tongue. The grandfather had only minor nail changes and mild keratoderma. </p><p>Du et al. (2012) reported a 32-year-old Chinese woman with toenail thickening, plantar hyperkeratosis with fissuring, and mild focal palmar hyperkeratosis but no fingernail changes. She also exhibited oral leukokeratosis, chapped lips, and fissured tongue. Histopathology of the plantar lesion showed hyperkeratosis, acanthosis, and a moderate increase in the granular layer with minimal lymphocytic infiltrate in the upper dermis. Her 7-year-old daughter had focal plantar hyperkeratosis, fissured tongue, and gingivitis, but no nail or hand involvement. Both patients reported hyperhidrosis of the hands and feet. </p><p>Goldberg et al. (2020) presented a case series of 9 children with PC3 and symptomatic mucosal involvement. Oral leukokeratosis presented early in the neonatal period. Seven patients had painful feeding as infants; 4 were diagnosed with failure to thrive, 3 of whom required a feeding tube. One patient (case 8) was diagnosed with oral and airway leukokeratosis with severe vocal cord involvement. He died at age 4 as a result of acute laryngitis that led to cardiorespiratory arrest. </p><p>Abdollahimajd et al. (2019) reported an 8-year-old girl with PC3 who had painful plantar hyperkeratosis and thickened nails with a progressive course since infancy. She also had follicular hyperkeratosis and buccal leukokeratosis. </p><p>Samuelov et al. (2020) analyzed 815 individuals with confirmed keratin mutations registered in the International Pachyonychia Congenita Research Registry to delineate clinical features and phenotype-genotype correlations. Mutations in KRT6A accounted for 41% of all cases. PC3 was associated with oral leukokeratosis, hoarse voice, younger age of onset, and highest number of fingernail and toenail involvement. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</h4>
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<p>Abdollahimajd et al. (2019) treated an 8-year-old girl with PC3 with oral rosuvastatin. After 6 months of treatment, the girl reported a marked decrease in plantar pain. Physical examination revealed partial improvement with fewer scales and fissures. Ultrasound demonstrated a 3.6-mm reduction in plantar callous thickness, a 23.4% decrease. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of PC3 in the family reported by Bowden et al. (1995) was consistent with autosomal dominant inheritance. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<p>In affected members of a Slovenian family segregating PC3, Bowden et al. (1995) identified heterozygosity for a 3-bp deletion in the KRT6A gene (Asn171del; 148041.0001). </p><p>Terrinoni et al. (2001) identified 3 novel mutations (148041.0002-148041.0004) and 2 previously identified mutations (see, e.g., 148041.0001) in the KRT6A gene in patients with pachyonychia congenita. </p><p>Smith et al. (2005) identified keratin mutations in 30 probands from the International Pachyonychia Congenita Research Registry, 17 of whom had mutations in the KRT6A gene (see, e.g., 148041.0001 and 148041.0005-148041.0008). </p><p>In a 32-year-old Chinese woman with pachyonychia congenita, Du et al. (2012) identified heterozygosity for a splice site mutation in the KRT6A gene (148041.0009). Her 7-year-old daughter, who had only focal plantar hyperkeratosis with no nail or hand involvement, was also heterozygous for the mutation. </p><p>Wilson et al. (2014) identified 18 different mutations in KRT6A in 31 families recruited through the International Pachyonychia Congenita Research Registry. The most common mutation was Asn172del, found in 10 families. Four mutations, including a nonsense mutation (E461X; 148041.0010), were novel. </p>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Spaunhurst et al. (2012) studied the clinical characteristics of patients who would previously have been diagnosed with the Jadassohn-Lewandowsky type of PC: 89 with PC3, caused by mutation in KRT6A, and 68 with PC1 (167200), caused by mutation in KRT16 (148070). Patients with PC3 and PC1 were found to have distinct phenotypic differences. Patients with PC3 experienced earlier onset and more extensive nail disease and had a higher prevalence of oral leukokeratosis, hoarse voice, cyst formations and follicular hyperkeratosis compared to patients with PC1. Both groups experienced similar plantar keratoderma and plantar pain. Patients with PC1 more commonly reported palmar keratoderma. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abdollahimajd, F., Rajabi, F., Shahidi-Dadras, M., Saket, S., Youssefian, L., Vahidnezhad, H., Uitto, J.
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<strong>Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.</strong>
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Brit. J. Derm. 181: 584-586, 2019.
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[PubMed: 30307612]
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[Full Text: https://doi.org/10.1111/bjd.17276]
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</p>
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</li>
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<p class="mim-text-font">
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Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O., Turner, R. J.
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<strong>Mutation of a type II keratin gene (K6a) in pachyonychia congenita.</strong>
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Nature Genet. 10: 363-365, 1995.
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[PubMed: 7545493]
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[Full Text: https://doi.org/10.1038/ng0795-363]
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</li>
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<p class="mim-text-font">
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Du, Z.-F., Xu, C.-M., Zhao, Y., Liu, W.-T., Chen, X.-L., Chen, C.-Y., Fang, H., Ke, H.-P., Zhang, X.-N.
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<strong>Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.</strong>
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Europ. J. Derm. 22: 476-480, 2012.
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[PubMed: 22668561]
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[Full Text: https://doi.org/10.1684/ejd.2012.1773]
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<p class="mim-text-font">
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Eliason, M. J., Leachman, S. A., Feng, B., Schwartz, M. E., Hansen, C. D.
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<strong>A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.</strong>
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J. Am. Acad. Derm. 67: 680-686, 2012.
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[PubMed: 22264670]
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[Full Text: https://doi.org/10.1016/j.jaad.2011.12.009]
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<p class="mim-text-font">
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Goldberg, I., Mashiah, J., Kutz, A., Derowe, A., Warshauer, E., Schwartz, M. E., Smith, F., Sprecher, E., Hansen, C. D.
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<strong>Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.</strong>
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Brit. J. Derm. 182: 708-713, 2020.
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[PubMed: 31777952]
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[Full Text: https://doi.org/10.1111/bjd.18742]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr.
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<strong>Syndromes of the Head and Neck. (2nd ed.)</strong>
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New York: McGraw-Hill (pub.) 1976. Pp. 600-603.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McLean, W. H. I., Hansen, C. D., Eliason, M. J., Smith, F. J. D.
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<strong>The phenotypic and molecular genetic features of pachyonychia congenita.</strong>
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J. Invest. Derm. 131: 1015-1017, 2011.
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[PubMed: 21430705]
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[Full Text: https://doi.org/10.1038/jid.2011.59]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Samuelov, L., Smith, F. J. D., Hansen, C. D., Sprecher, E.
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<strong>Revisiting pachyonychia congenita: a case-cohort study of 815 patients.</strong>
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Brit. J. Derm. 182: 738-746, 2020.
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[PubMed: 31823354]
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[Full Text: https://doi.org/10.1111/bjd.18794]
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</li>
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<li>
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<p class="mim-text-font">
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Shah, S., Boen, M., Kenner-Bell, B., Schwartz, M., Rademaker, A., Paller, A. S.
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<strong>Pachyonychia congenita in pediatric patients: natural history, features, and impact.</strong>
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JAMA Derm. 150: 146-153, 2014.
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[PubMed: 24132595]
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[Full Text: https://doi.org/10.1001/jamadermatol.2013.6448]
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</li>
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<li>
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<p class="mim-text-font">
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Smith, F. J. D., Jonkman, M. F., van Goor, H., Coleman, C. M., Covello, S. P., Uitto, J., McLean, W. H. I.
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<strong>A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.</strong>
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Hum. Molec. Genet. 7: 1143-1148, 1998.
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[PubMed: 9618173]
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[Full Text: https://doi.org/10.1093/hmg/7.7.1143]
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<li>
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<p class="mim-text-font">
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Smith, F. J. D., Liao, H., Cassidy, A. J., Stewart, A., Hamill, K. J., Wood, P., Joval, I., van Steensel, M. A. M., Bjorck, E., Callif-Daley, F., Pals, G., Collins, P., Leachman, S. A., Munro, C. S., McLean, W. H. I.
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<strong>The genetic basis of pachyonychia congenita.</strong>
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J. Invest. Derm. Symp. Proc. 10: 21-30, 2005.
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[PubMed: 16250206]
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[Full Text: https://doi.org/10.1111/j.1087-0024.2005.10204.x]
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Spaunhurst, K. M., Hogendorf, A. M., Smith, F. J. D., Lingala, B., Schwartz, M. E., Cywinska-Bernas, A., Zeman, K. J., Tang, J. Y.
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<strong>Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.</strong>
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Brit. J. Derm. 166: 875-878, 2012.
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[PubMed: 22098151]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2011.10745.x]
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Sybert, V. P.
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<strong>Genetic Skin Disorders. (2nd ed.)</strong>
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New York: Oxford Univ. Press (pub.) 2010. Pp. 248-253.
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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
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<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
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J. Invest. Derm. 117: 1391-1396, 2001.
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[PubMed: 11886499]
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[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01565.x]
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Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E., Smith, F. J. D.
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<strong>The molecular genetic analysis of the expanding pachyonychia congenita case collection.</strong>
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Brit. J. Derm. 171: 343-355, 2014.
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[PubMed: 24611874]
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[Full Text: https://doi.org/10.1111/bjd.12958]
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Kelly A. Przylepa - updated : 03/19/2020<br>Marla J. F. O'Neill - updated : 9/18/2014
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