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<title>
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Entry
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- #613000 - PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1
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- OMIM
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<span class="h4">#613000</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#description">Description</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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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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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<div><a href="https://clinicaltrials.gov/search?cond=(PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL) OR (KRT16)" class="mim-tip-hint" title="Clinical Trials" 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=23565&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.diseaseinfosearch.org/x/7274" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613000[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=448264" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111709" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/613000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002088/" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0111709" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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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> 448264<br />
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<strong>DO:</strong> 0111709<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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613000
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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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PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1
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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="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
PPKFNE<br />
|
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FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA<br />
|
|
KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
|
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</span>
|
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</h4>
|
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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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<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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
|
</th>
|
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<th>
|
|
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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</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">
|
|
<a href="/geneMap/17/550?start=-3&limit=10&highlight=550">
|
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17q21.2
|
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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">
|
|
Palmoplantar keratoderma, nonepidermolytic, focal
|
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/613000"> 613000 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
KRT16
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148067"> 148067 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/613000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
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|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613000" 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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
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|
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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;">
|
|
|
|
<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 />
|
|
|
|
</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">
|
|
|
|
- Whitish opalescence of hard palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552627</a>]</span><br /> -
|
|
Whitish opalescence of buccal mucosa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552628</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Whitish opalescence of glans penis in circumcised males <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552626</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">
|
|
|
|
- Large hard compact painful masses of keratin at sites of recurrent friction on palms and soles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552629</a>]</span><br /> -
|
|
Keratosis pilaris (arms and legs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232745</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5132005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5132005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032152</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperkeratosis of stratum corneum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549535&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549535</a>]</span><br /> -
|
|
No cytolysis or abnormal keratohyalin granules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552631</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No aggregated tonofilaments <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551256</a>]</span><br /> -
|
|
No large keratohyalin granules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551257</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">
|
|
|
|
- Wide onychocorenal band <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232746</a>]</span><br /> -
|
|
Splinter hemorrhages <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91608003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91608003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333286</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000139</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000139</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
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|
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|
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|
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|
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|
|
|
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|
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|
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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 16 gene (KRT16, <a href="/entry/148067#0002">148067.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
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|
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|
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|
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|
|
|
</div>
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is caused by heterozygous mutation in the KRT16 gene (<a href="/entry/148067">148067</a>) on chromosome 17q21.</p><p>Another focal form of NEPPK1, FNEPPK2 (<a href="/entry/616400">616400</a>), is caused by heterozygous mutation in the TRPV3 gene (<a href="/entry/607066">607066</a>). Focal forms of PPK associated with esophageal carcinoma (TOC; <a href="/entry/148500">148500</a>) and with gingival hyperplasia (<a href="/entry/148730">148730</a>) have been described.</p><p>For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (<a href="/entry/144200">144200</a>).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
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<p>Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by <a href="#1" class="mim-tip-reference" title="Kelsell, D. P., Stevens, H. P., Ratnavel, R., Bryant, S. P., Bishop, D. T., Leigh, I. M., Spurr, N. K. <strong>Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.</strong> Hum. Molec. Genet. 4: 1021-1025, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7544664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7544664</a>] [<a href="https://doi.org/10.1093/hmg/4.6.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7544664">Kelsell et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7544664" 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="#6" class="mim-tip-reference" title="Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M. <strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract)</strong> Brit. J. Derm. 131: 425 only, 1994."None>Stevens et al. (1994)</a> studied one 2-generation and two 3-generation families in which focal NEPPK segregated as an autosomal dominant with an age of onset of 6 to 7 years. Affected individuals developed large, hard, compact painful masses of keratin at sites of recurrent friction on the feet and hands. Blistering occurred in hot weather upon walking approximately 1 mile. The onychocorenal band was widened with multiple splinter hemorrhages, keratosis pilaris was seen on the arms and legs, and a whitish opalescence over the hard palate, buccal mucosa, and glans penis of circumcised males.</p><p><a href="#1" class="mim-tip-reference" title="Kelsell, D. P., Stevens, H. P., Ratnavel, R., Bryant, S. P., Bishop, D. T., Leigh, I. M., Spurr, N. K. <strong>Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.</strong> Hum. Molec. Genet. 4: 1021-1025, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7544664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7544664</a>] [<a href="https://doi.org/10.1093/hmg/4.6.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7544664">Kelsell et al. (1995)</a> reported a large 4-generation Caucasian pedigree segregating autosomal dominant focal NEPPK associated with orogenital hyperkeratosis. Patients presented at 6 to 7 years of age with development of large, hard, compact painful masses of keratin, particularly on the soles and other areas of repeated mechanical trauma. Skin biopsies from 2 affected individuals confirmed the nonepidermolytic pattern of PPK. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7544664" 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="Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I. <strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong> Exp. Derm. 9: 170-177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839714</a>] [<a href="https://doi.org/10.1034/j.1600-0625.2000.009003170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10839714">Smith et al. (2000)</a> examined 6 affected members from a 3-generation family with mild FNEPPK, in which the keratoderma was confined to the weight-bearing areas of the soles, with no evidence of palmar keratoderma, nail changes, or oral leukokeratosis. Histologic analysis of a plantar skin biopsy showed no signs of epidermolysis, consistent with the diagnosis of FNEPPK. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839714" 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="#7" class="mim-tip-reference" title="Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G. <strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong> J. Invest. Derm. 114: 1136-1140, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10844556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10844556</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00983.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10844556">Terrinoni et al. (2000)</a> described a patient with a localized thickening of the skin in parts of the right palm and the right sole, following the Blaschko lines. Light microscopy showed hyperkeratosis, vacuolar degeneration of keratinocytes in the upper spinosum and granular layer, pyknotic nuclei, and a thickened granular layer containing an increased number of keratohyaline granules. Histologic findings were consistent with the diagnosis of disease similar to localized palmoplantar epidermolytic hyperkeratosis, or focal EPPK, and ultrastructural analysis suggested a keratin defect. The authors proposed that this clinical entity be referred to as 'unilateral palmoplantar verrucous nevus,' rather than localized or focal epidermolytic palmoplantar keratoderma, as the lesions are present only on one side of the body and follow the lines of Blaschko. This patient was found to have somatic mosaicism for a mutation in the KRT16 gene (see MOLECULAR GENETICS). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10844556" 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 FNEPPK1 in the families reported by <a href="#4" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., Kelsell, D. P., McLean, W. H. I., Cook, L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher 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=8595410" 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 a multigenerational family with autosomal dominant focal NEPPK, <a href="#6" class="mim-tip-reference" title="Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M. <strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract)</strong> Brit. J. Derm. 131: 425 only, 1994."None>Stevens et al. (1994)</a> performed segregation analysis using markers flanking the keratin gene clusters at chromosomes 12q and 17q; they excluded linkage to chromosome 12q, but obtained a Z-score of 3.2 (theta = 0.0) on chromosome 17q12-q21.</p><p>In a large, 4-generation Caucasian pedigree with focal NEPPK, <a href="#1" class="mim-tip-reference" title="Kelsell, D. P., Stevens, H. P., Ratnavel, R., Bryant, S. P., Bishop, D. T., Leigh, I. M., Spurr, N. K. <strong>Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.</strong> Hum. Molec. Genet. 4: 1021-1025, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7544664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7544664</a>] [<a href="https://doi.org/10.1093/hmg/4.6.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7544664">Kelsell et al. (1995)</a> excluded linkage to markers on chromosome 12q11-q12, but obtained a lod score of 3.25 on chromosome 17q12-q21 with 3-point analysis involving a microsatellite marker within intron 4 of the KRT9 gene (<a href="/entry/607606">607606</a>) and D17S855 (theta = 0.0). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7544664" 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 2 families with identical clinical phenotypes of focal NEPPK with follicular and orogenital hyperkeratosis, 1 of which was the large multigenerational family with linkage to chromosome 17q12-q21 previously studied by <a href="#6" class="mim-tip-reference" title="Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M. <strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract)</strong> Brit. J. Derm. 131: 425 only, 1994."None>Stevens et al. (1994)</a>, <a href="#4" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., Kelsell, D. P., McLean, W. H. I., Cook, L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> sequenced the KRT16 gene and identified heterozygosity for 2 different missense mutations in affected individuals (<a href="/entry/148067#0002">148067.0002</a> and <a href="/entry/148067#0003">148067.0003</a>, respectively). The mutations were not found in unaffected family members or in 30 unrelated controls. <a href="#4" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., Kelsell, D. P., McLean, W. H. I., Cook, L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> noted that the manifestations of focal NEPPK are very similar to those of pachyonychia congenita, with the only significant difference being the extent of nail involvement; see, e.g., pachyonychia congenita-1 (PC1; <a href="/entry/167200">167200</a>), in which mutation in the KRT16 gene has also been found (<a href="/entry/148067#0001">148067.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" 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="McLean, W. H. I. <strong>Personal Communication.</strong> Philadelphia, Pa. 2/26/1997."None>McLean (1997)</a> noted that the 2 families studied by <a href="#4" class="mim-tip-reference" title="Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., Kelsell, D. P., McLean, W. H. I., Cook, L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M. <strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong> Hum. Molec. Genet. 4: 1875-1881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>] [<a href="https://doi.org/10.1093/hmg/4.10.1875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595410">Shamsher et al. (1995)</a> had mild nail changes similar to those that occur in a much more severe form in pachyonychia congenita, and concluded that expression of nail dystrophy in addition to palmoplantar keratoderma is not dependent on the specific mutation, as this has been found to vary greatly within large families. Because of the marked phenotypic variability observed in all keratin diseases, even among persons with the same mutation, <a href="#3" class="mim-tip-reference" title="McLean, W. H. I. <strong>Personal Communication.</strong> Philadelphia, Pa. 2/26/1997."None>McLean (1997)</a> suggested that there are probably modifier genes and/or environmental influences yet to be defined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" 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 3-generation family with mild FNEPPK, <a href="#5" class="mim-tip-reference" title="Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I. <strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong> Exp. Derm. 9: 170-177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839714</a>] [<a href="https://doi.org/10.1034/j.1600-0625.2000.009003170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10839714">Smith et al. (2000)</a> identified a complex deletion (<a href="/entry/148067#0011">148067.0011</a>) in the KRT16 gene. The authors noted that the deletion, which removes a keratin-16 helix termination motif (HTM), unexpectedly resulted in a relatively mild phenotype. In vitro studies suggested that loss of the HTM sequence may render the mutant protein less capable of contributing to filament assembly and thus decrease its dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839714" 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 patient with unilateral palmoplantar verrucous nevus, <a href="#7" class="mim-tip-reference" title="Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G. <strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong> J. Invest. Derm. 114: 1136-1140, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10844556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10844556</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00983.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10844556">Terrinoni et al. (2000)</a> reported somatic mosaicism for a 12-bp deletion in the KRT16 gene in a biopsy from lesional epidermis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10844556" 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="#2" class="mim-tip-reference" title="Lessard, J. C., Coulombe, P. A. <strong>Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.</strong> J. Invest. Derm. 132: 1384-1391, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22336941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22336941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22336941[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/10.1038/jid.2012.6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22336941">Lessard and Coulombe (2012)</a> generated Krt16 -/- mice and observed failure to thrive and increased postnatal mortality, with more than 30% of mice dying within 24 hours of birth and over 60% before weaning age. The survivors continued to grow and gained weight but remained smaller and lighter than their littermate controls. Hyperplastic lesions on the dorsal midline posterior tongue were observed in all mutant mice by postnatal day 3 (P3). Surviving mice no longer had visible lesions, but tongue architecture showed thickened epithelium and loss of normal filiform papillae; the authors suggested that the oral lesions might be painful and affect feeding behavior. Starting at 4 to 6 weeks of age, Krt16 -/- mice developed prominent hyperkeratotic calluses of both the front and hind paws, particularly in areas of high physical impact, consistent with the KRT16-associated focal PPK observed in humans. Adult mutant mice were significantly less active than control animals, which the authors hypothesized was the result of substantial discomfort due to the palmoplantar lesions. Reduced filaggrin expression in established front paw calluses was observed, indicating focal loss of barrier protection. In contrast to human disease, nail morphology was not affected in Krt16 -/- mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22336941" 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>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Kelsell1995" class="mim-anchor"></a>
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<div class="">
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Kelsell, D. P., Stevens, H. P., Ratnavel, R., Bryant, S. P., Bishop, D. T., Leigh, I. M., Spurr, N. K.
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<strong>Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.</strong>
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Hum. Molec. Genet. 4: 1021-1025, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7544664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7544664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7544664" 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/4.6.1021" target="_blank">Full Text</a>]
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<a id="Lessard2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lessard, J. C., Coulombe, P. A.
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<strong>Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.</strong>
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J. Invest. Derm. 132: 1384-1391, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22336941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22336941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22336941[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=22336941" 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.2012.6" target="_blank">Full Text</a>]
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<a id="McLean1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McLean, W. H. I.
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<strong>Personal Communication.</strong>
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Philadelphia, Pa. 2/26/1997.
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<a id="Shamsher1995" class="mim-anchor"></a>
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<div class="">
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Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., Kelsell, D. P., McLean, W. H. I., Cook, L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M.
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<strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong>
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Hum. Molec. Genet. 4: 1875-1881, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595410" 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/4.10.1875" target="_blank">Full Text</a>]
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<a id="Smith2000" class="mim-anchor"></a>
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Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I.
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<strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong>
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Exp. Derm. 9: 170-177, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10839714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10839714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10839714" 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/10.1034/j.1600-0625.2000.009003170.x" target="_blank">Full Text</a>]
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<a id="Stevens1994" class="mim-anchor"></a>
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Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M.
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<strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract)</strong>
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Brit. J. Derm. 131: 425 only, 1994.
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<a id="Terrinoni2000" class="mim-anchor"></a>
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Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G.
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<strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong>
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J. Invest. Derm. 114: 1136-1140, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10844556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10844556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10844556" 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.1523-1747.2000.00983.x" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 05/14/2024
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Marla J. F. O'Neill : 9/2/2009
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alopez : 05/14/2024
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alopez : 06/09/2023<br>carol : 08/13/2021<br>alopez : 08/12/2021<br>alopez : 08/12/2021<br>carol : 06/03/2015<br>mcolton : 6/1/2015<br>carol : 9/19/2014<br>carol : 4/10/2014<br>carol : 1/10/2014<br>wwang : 9/3/2009<br>wwang : 9/3/2009
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<strong>#</strong> 613000
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PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1
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<em>Alternative titles; symbols</em>
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PPKFNE<br />
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FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA<br />
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KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
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<strong>ORPHA:</strong> 448264;
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<strong>DO:</strong> 0111709;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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17q21.2
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Palmoplantar keratoderma, nonepidermolytic, focal
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<span class="mim-font">
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613000
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Autosomal dominant
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<span class="mim-font">
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3
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KRT16
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<span class="mim-font">
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148067
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is caused by heterozygous mutation in the KRT16 gene (148067) on chromosome 17q21.</p><p>Another focal form of NEPPK1, FNEPPK2 (616400), is caused by heterozygous mutation in the TRPV3 gene (607066). Focal forms of PPK associated with esophageal carcinoma (TOC; 148500) and with gingival hyperplasia (148730) have been described.</p><p>For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200).</p>
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<strong>Description</strong>
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<p>Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by Kelsell et al., 1995). </p>
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<strong>Clinical Features</strong>
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<p>Stevens et al. (1994) studied one 2-generation and two 3-generation families in which focal NEPPK segregated as an autosomal dominant with an age of onset of 6 to 7 years. Affected individuals developed large, hard, compact painful masses of keratin at sites of recurrent friction on the feet and hands. Blistering occurred in hot weather upon walking approximately 1 mile. The onychocorenal band was widened with multiple splinter hemorrhages, keratosis pilaris was seen on the arms and legs, and a whitish opalescence over the hard palate, buccal mucosa, and glans penis of circumcised males.</p><p>Kelsell et al. (1995) reported a large 4-generation Caucasian pedigree segregating autosomal dominant focal NEPPK associated with orogenital hyperkeratosis. Patients presented at 6 to 7 years of age with development of large, hard, compact painful masses of keratin, particularly on the soles and other areas of repeated mechanical trauma. Skin biopsies from 2 affected individuals confirmed the nonepidermolytic pattern of PPK. </p><p>Smith et al. (2000) examined 6 affected members from a 3-generation family with mild FNEPPK, in which the keratoderma was confined to the weight-bearing areas of the soles, with no evidence of palmar keratoderma, nail changes, or oral leukokeratosis. Histologic analysis of a plantar skin biopsy showed no signs of epidermolysis, consistent with the diagnosis of FNEPPK. </p><p>Terrinoni et al. (2000) described a patient with a localized thickening of the skin in parts of the right palm and the right sole, following the Blaschko lines. Light microscopy showed hyperkeratosis, vacuolar degeneration of keratinocytes in the upper spinosum and granular layer, pyknotic nuclei, and a thickened granular layer containing an increased number of keratohyaline granules. Histologic findings were consistent with the diagnosis of disease similar to localized palmoplantar epidermolytic hyperkeratosis, or focal EPPK, and ultrastructural analysis suggested a keratin defect. The authors proposed that this clinical entity be referred to as 'unilateral palmoplantar verrucous nevus,' rather than localized or focal epidermolytic palmoplantar keratoderma, as the lesions are present only on one side of the body and follow the lines of Blaschko. This patient was found to have somatic mosaicism for a mutation in the KRT16 gene (see MOLECULAR GENETICS). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of FNEPPK1 in the families reported by Shamsher et al. (1995) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>In a multigenerational family with autosomal dominant focal NEPPK, Stevens et al. (1994) performed segregation analysis using markers flanking the keratin gene clusters at chromosomes 12q and 17q; they excluded linkage to chromosome 12q, but obtained a Z-score of 3.2 (theta = 0.0) on chromosome 17q12-q21.</p><p>In a large, 4-generation Caucasian pedigree with focal NEPPK, Kelsell et al. (1995) excluded linkage to markers on chromosome 12q11-q12, but obtained a lod score of 3.25 on chromosome 17q12-q21 with 3-point analysis involving a microsatellite marker within intron 4 of the KRT9 gene (607606) and D17S855 (theta = 0.0). </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 families with identical clinical phenotypes of focal NEPPK with follicular and orogenital hyperkeratosis, 1 of which was the large multigenerational family with linkage to chromosome 17q12-q21 previously studied by Stevens et al. (1994), Shamsher et al. (1995) sequenced the KRT16 gene and identified heterozygosity for 2 different missense mutations in affected individuals (148067.0002 and 148067.0003, respectively). The mutations were not found in unaffected family members or in 30 unrelated controls. Shamsher et al. (1995) noted that the manifestations of focal NEPPK are very similar to those of pachyonychia congenita, with the only significant difference being the extent of nail involvement; see, e.g., pachyonychia congenita-1 (PC1; 167200), in which mutation in the KRT16 gene has also been found (148067.0001). </p><p>McLean (1997) noted that the 2 families studied by Shamsher et al. (1995) had mild nail changes similar to those that occur in a much more severe form in pachyonychia congenita, and concluded that expression of nail dystrophy in addition to palmoplantar keratoderma is not dependent on the specific mutation, as this has been found to vary greatly within large families. Because of the marked phenotypic variability observed in all keratin diseases, even among persons with the same mutation, McLean (1997) suggested that there are probably modifier genes and/or environmental influences yet to be defined. </p><p>In a 3-generation family with mild FNEPPK, Smith et al. (2000) identified a complex deletion (148067.0011) in the KRT16 gene. The authors noted that the deletion, which removes a keratin-16 helix termination motif (HTM), unexpectedly resulted in a relatively mild phenotype. In vitro studies suggested that loss of the HTM sequence may render the mutant protein less capable of contributing to filament assembly and thus decrease its dominant-negative effect. </p><p>In a patient with unilateral palmoplantar verrucous nevus, Terrinoni et al. (2000) reported somatic mosaicism for a 12-bp deletion in the KRT16 gene in a biopsy from lesional epidermis. </p>
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<p>Lessard and Coulombe (2012) generated Krt16 -/- mice and observed failure to thrive and increased postnatal mortality, with more than 30% of mice dying within 24 hours of birth and over 60% before weaning age. The survivors continued to grow and gained weight but remained smaller and lighter than their littermate controls. Hyperplastic lesions on the dorsal midline posterior tongue were observed in all mutant mice by postnatal day 3 (P3). Surviving mice no longer had visible lesions, but tongue architecture showed thickened epithelium and loss of normal filiform papillae; the authors suggested that the oral lesions might be painful and affect feeding behavior. Starting at 4 to 6 weeks of age, Krt16 -/- mice developed prominent hyperkeratotic calluses of both the front and hind paws, particularly in areas of high physical impact, consistent with the KRT16-associated focal PPK observed in humans. Adult mutant mice were significantly less active than control animals, which the authors hypothesized was the result of substantial discomfort due to the palmoplantar lesions. Reduced filaggrin expression in established front paw calluses was observed, indicating focal loss of barrier protection. In contrast to human disease, nail morphology was not affected in Krt16 -/- mice. </p>
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<strong>REFERENCES</strong>
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Kelsell, D. P., Stevens, H. P., Ratnavel, R., Bryant, S. P., Bishop, D. T., Leigh, I. M., Spurr, N. K.
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<strong>Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.</strong>
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Hum. Molec. Genet. 4: 1021-1025, 1995.
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[PubMed: 7544664]
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[Full Text: https://doi.org/10.1093/hmg/4.6.1021]
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Lessard, J. C., Coulombe, P. A.
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<strong>Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.</strong>
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J. Invest. Derm. 132: 1384-1391, 2012.
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[PubMed: 22336941]
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[Full Text: https://doi.org/10.1038/jid.2012.6]
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McLean, W. H. I.
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<strong>Personal Communication.</strong>
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Philadelphia, Pa. 2/26/1997.
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Shamsher, M. K., Navsaria, H. A., Stevens, H. P., Ratnavel, R. C., Purkis, P. E., Kelsell, D. P., McLean, W. H. I., Cook, L. J., Griffiths, W. A. D., Geschmeissner, S., Spurr, N., Leigh, I. M.
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<strong>Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.</strong>
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Hum. Molec. Genet. 4: 1875-1881, 1995.
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[PubMed: 8595410]
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[Full Text: https://doi.org/10.1093/hmg/4.10.1875]
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Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein, E. H., Jr., Tan, E. M. L., Uitto, J., McLean, W. H. I.
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<strong>Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.</strong>
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Exp. Derm. 9: 170-177, 2000.
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[PubMed: 10839714]
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[Full Text: https://doi.org/10.1034/j.1600-0625.2000.009003170.x]
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<p class="mim-text-font">
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Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M.
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<strong>Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract)</strong>
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Brit. J. Derm. 131: 425 only, 1994.
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Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J. D., McLean, W. H. I., Melino, G.
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<strong>A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.</strong>
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J. Invest. Derm. 114: 1136-1140, 2000.
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[PubMed: 10844556]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2000.00983.x]
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Marla J. F. O'Neill - updated : 05/14/2024
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