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Entry
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- #615728 - PACHYONYCHIA CONGENITA 4; PC4
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- OMIM
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<p>
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<span class="h4">#615728</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/615728"><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="#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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<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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</ul>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</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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</div>
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</a>
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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://medlineplus.gov/genetics/condition/pachyonychia-congenita" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615728[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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<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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615728
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</span>
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</span>
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</div>
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</div>
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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 4; PC4
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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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<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">
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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 4
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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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<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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KRT6B
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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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</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/615728" 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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</button>
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</div>
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<div class="btn-group">
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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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</div>
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<div class="btn-group">
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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/615728" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/615728" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<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>
|
|
<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 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 (post-pubertal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393887&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393887</a>]</span> <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><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>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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 6B gene (KRT6B, <a href="/entry/148042#0001">148042.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Pachyonychia congenita
|
|
- <a href="/phenotypicSeries/PS167200">PS167200</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/407?start=-3&limit=10&highlight=407"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615728"> Pachyonychia congenita 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615728"> 615728 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148042"> KRT6B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148042"> 148042 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/409?start=-3&limit=10&highlight=409"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615726"> Pachyonychia congenita 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615726"> 615726 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148041"> KRT6A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148041"> 148041 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/550?start=-3&limit=10&highlight=550"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167200"> Pachyonychia congenita 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167200"> 167200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148067"> KRT16 </a>
|
|
</span>
|
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</td>
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<p>A number sign (#) is used with this entry because of evidence that pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (<a href="/entry/148042">148042</a>) on chromosome 12q13.</p>
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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="#9" 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="#1" 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="#4" 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="#2" 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="#7" 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="#10" 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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<p>The form of PC caused by mutation in the KRT6B gene, here designated PC4, has also been designated PC-6b (<a href="#1" 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-K6b (<a href="#6" 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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<p><a href="#7" 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> reported a 5-generation Dutch family segregating autosomal dominant pachyonychia congenita, which was described as the Jackson-Lawler type. Hypertrophic nail dystrophy affected all fingernails and toenails, and focal palmoplantar keratoderma occurred on the pressure points of the feet. Steatocystomas were widespread in postpubescent affected individuals. Mild lingual hyperkeratosis was present on the margins of the tongue. <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><a href="#3" class="mim-tip-reference" title="Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y. <strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong> J. Derm. 41: 108-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24354895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24354895</a>] [<a href="https://doi.org/10.1111/1346-8138.12349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24354895">Guo et al. (2014)</a> reported a 9-year-old Chinese girl who presented at age 6 years with thickened fingernails and toenails. Physical examination showed hyperkeratotic nails. Steatocystoma multiplex, palmoplantar keratoderma, and natal teeth were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24354895" 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 PC4 in the family reported by <a href="#7" 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> was consistent with autosomal dominant inheritance. <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>
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<p>In affected members of a family segregating pachyonychia congenita of the Jackson-Lawler type, <a href="#7" 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> identified heterozygosity for a missense mutation in the KRT6B gene (E472K; <a href="/entry/148042#0001">148042.0001</a>). <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>In 2 families (families 29 and 30) segregating pachyonychia congenita, <a href="#8" 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 heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by <a href="#7" 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>. Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9618173+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 9 of 84 families with pachyonychia congenita recruited through the International Pachyonychia Congenita Research Registry, <a href="#11" 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://www.ncbi.nlm.nih.gov/pmc/?term=24611874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</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 heterozygous mutations in the KRT6B gene, including 1 novel mutation (L469R; <a href="/entry/148042#0002">148042.0002</a>). The authors noted that the analogous mutation had been reported in the KRT6A gene (<a href="/entry/148041#0004">148041.0004</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'})"><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 9-year-old Chinese girl with delayed onset of PC4, <a href="#3" class="mim-tip-reference" title="Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y. <strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong> J. Derm. 41: 108-109, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24354895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24354895</a>] [<a href="https://doi.org/10.1111/1346-8138.12349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24354895">Guo et al. (2014)</a> identified a heterozygous missense mutation (G499S; <a href="/entry/148042#0003">148042.0003</a>) in the KRT6B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24354895" 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="#5" 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 (<a href="/entry/148041">148041</a>) and KRT16 (<a href="/entry/148067">148067</a>) were the most common (41% and 31%, respectively). Mutations in KRT6B accounted for 9% of PC patients. Young age at diagnosis or involvement of a high number of fingernails and toenails was significantly associated with PC3 (<a href="/entry/615726">615726</a>). Plantar keratoderma was seen in all PC patients; however, palmar keratoderma was most common in PC1 (<a href="/entry/167200">167200</a>). Oral leukokeratosis, nursing difficulties, hoarseness, and ear pain/ear wax were significantly associated with PC3. Cysts and natal teeth were most commonly seen in PC2 (<a href="/entry/167210">167210</a>). Natal teeth were not reported in either PC1 or PC4. Lack of fingernail involvement was most commonly seen in PC1 and PC4. <a href="#5" 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> determined that 55% of PC4 patients with no fingernail involvement had the E472K mutation. <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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Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y.
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<strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong>
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J. Derm. 41: 108-109, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24354895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24354895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24354895" 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/10.1111/1346-8138.12349" target="_blank">Full Text</a>]
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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: <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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21430705" 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/10.1038/jid.2011.59" target="_blank">Full Text</a>]
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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: <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://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'})">related citations</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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[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24132595" 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/10.1001/jamadermatol.2013.6448" target="_blank">Full Text</a>]
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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: <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://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'})">related citations</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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<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: <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://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'})">related citations</a>]
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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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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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[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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Brit. J. Derm. 171: 343-355, 2014.
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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://www.ncbi.nlm.nih.gov/pmc/?term=24611874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</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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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 03/06/2020
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Carol A. Bocchini : 4/3/2014
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alopez : 02/09/2024
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carol : 03/06/2020<br>carol : 07/09/2016<br>carol : 7/2/2014<br>carol : 4/11/2014<br>carol : 4/10/2014<br>carol : 4/10/2014
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<strong>#</strong> 615728
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PACHYONYCHIA CONGENITA 4; PC4
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<strong>ORPHA:</strong> 2309;
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Location
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Phenotype
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Inheritance
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12q13.13
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Pachyonychia congenita 4
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615728
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Autosomal dominant
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3
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KRT6B
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148042
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<p>A number sign (#) is used with this entry because of evidence that pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13.</p>
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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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<p>The form of PC caused by mutation in the KRT6B gene, here designated PC4, has also been designated PC-6b (Eliason et al., 2012) and PC-K6b (Shah et al., 2014). </p>
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<strong>Clinical Features</strong>
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<p>Smith et al. (1998) reported a 5-generation Dutch family segregating autosomal dominant pachyonychia congenita, which was described as the Jackson-Lawler type. Hypertrophic nail dystrophy affected all fingernails and toenails, and focal palmoplantar keratoderma occurred on the pressure points of the feet. Steatocystomas were widespread in postpubescent affected individuals. Mild lingual hyperkeratosis was present on the margins of the tongue. </p><p>Guo et al. (2014) reported a 9-year-old Chinese girl who presented at age 6 years with thickened fingernails and toenails. Physical examination showed hyperkeratotic nails. Steatocystoma multiplex, palmoplantar keratoderma, and natal teeth were not present. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PC4 in the family reported by Smith et al. (1998) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a family segregating pachyonychia congenita of the Jackson-Lawler type, Smith et al. (1998) identified heterozygosity for a missense mutation in the KRT6B gene (E472K; 148042.0001). </p><p>In 2 families (families 29 and 30) segregating pachyonychia congenita, Smith et al. (2005) identified heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family by Smith et al. (1998). Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry. </p><p>In 9 of 84 families with pachyonychia congenita recruited through the International Pachyonychia Congenita Research Registry, Wilson et al. (2014) identified heterozygous mutations in the KRT6B gene, including 1 novel mutation (L469R; 148042.0002). The authors noted that the analogous mutation had been reported in the KRT6A gene (148041.0004). </p><p>In a 9-year-old Chinese girl with delayed onset of PC4, Guo et al. (2014) identified a heterozygous missense mutation (G499S; 148042.0003) in the KRT6B gene. </p>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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<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 (148041) and KRT16 (148067) were the most common (41% and 31%, respectively). Mutations in KRT6B accounted for 9% of PC patients. Young age at diagnosis or involvement of a high number of fingernails and toenails was significantly associated with PC3 (615726). Plantar keratoderma was seen in all PC patients; however, palmar keratoderma was most common in PC1 (167200). Oral leukokeratosis, nursing difficulties, hoarseness, and ear pain/ear wax were significantly associated with PC3. Cysts and natal teeth were most commonly seen in PC2 (167210). Natal teeth were not reported in either PC1 or PC4. Lack of fingernail involvement was most commonly seen in PC1 and PC4. Samuelov et al. (2020) determined that 55% of PC4 patients with no fingernail involvement had the E472K mutation. </p>
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<strong>REFERENCES</strong>
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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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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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Guo, K., Xiao, S., Geng, S., Feng, Y., Zhang, D., Zhou, P., Zhang, Y.
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<strong>Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b. (Letter)</strong>
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J. Derm. 41: 108-109, 2014.
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[PubMed: 24354895]
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[Full Text: https://doi.org/10.1111/1346-8138.12349]
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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 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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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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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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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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[Full Text: https://doi.org/10.1111/j.1087-0024.2005.10204.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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