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<title>
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Entry
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- #612908 - KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></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="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(KERATOSIS PALMOPLANTARIS STRIATA II) OR (DSP)" 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=10662&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/8708" 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=612908[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=50942" 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><a href="https://www.alliancegenome.org/disease/DOID:0081109" 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/612908" 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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<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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<a id="title" class="mim-anchor"></a>
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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> 50942<br />
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<strong>DO:</strong> 0081109<br />
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">ICD+</a>
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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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612908
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</span>
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</span>
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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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KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2
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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>
|
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<span class="mim-font">
|
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KERATODERMA, PALMOPLANTAR, STRIATE FORM II; KPPS2<br />
|
|
STRIATE PALMOPLANTAR KERATODERMA II; SPPK2
|
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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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<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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<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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/6/42?start=-3&limit=10&highlight=42">
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6p24.3
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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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Keratosis palmoplantaris striata II
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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/612908"> 612908 </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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DSP
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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/125647"> 125647 </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/612908" 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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612908" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/612908" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
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<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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">
|
|
|
|
- Dry flaking skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693065</a>]</span><br /> -
|
|
Palmar keratoderma in linear pattern along flexor aspect of fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693066</a>]</span><br /> -
|
|
Pressure-point plantar keratoderma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693067</a>]</span><br /> -
|
|
Diffuse background palmoplantar thickening (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693068</a>]</span><br /> -
|
|
Fissuring of skin (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31478005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31478005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95321009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031057" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031057</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">
|
|
|
|
- Acanthosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23620008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23620008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221270</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025092</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025092</a>]</span><br /> -
|
|
Hyperkeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254666005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254666005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399955009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399955009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26996000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0870082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0870082</a>, <a href="https://bioportal.bioontology.org/search?q=C0022593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span><br /> -
|
|
Widening of keratinocyte intracellular spaces in spinous layer <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4694115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4694115</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">
|
|
|
|
- Reduced size of desmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693070</a>]</span><br /> -
|
|
Reduced number of desmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013296</a>]</span><br /> -
|
|
Perinuclear condensation of keratin filaments <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693071</a>]</span><br /> -
|
|
Peripheral keratin network sparse to absent in some areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693072&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693072</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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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in first to third decades of life<br /> -
|
|
Exacerbated by heavy manual labor<br /> -
|
|
Some mutation carriers with sedentary jobs show mild to no symptoms<br />
|
|
|
|
</span>
|
|
</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 desmoplakin gene (DSP, <a href="/entry/125647#0001">125647.0001</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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</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 keratosis palmoplantaris striata II (PPKS2) is caused by heterozygous mutation in the DSP gene (<a href="/entry/125647">125647</a>) on chromosome 6p24.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
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|
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<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>
|
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|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
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<p>PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (<a href="#1" class="mim-tip-reference" title="Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E. <strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong> Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887343</a>] [<a href="https://doi.org/10.1093/hmg/8.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887343">Armstrong et al., 1999</a>; <a href="#3" class="mim-tip-reference" title="Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J., McGrath, J. A. <strong>Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.</strong> J. Invest. Derm. 113: 940-946, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594734</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00783.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10594734">Whittock et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10594734+9887343" 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 the striate form of palmoplantar keratoderma, see PPKS1 (<a href="/entry/148700">148700</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E. <strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong> Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887343</a>] [<a href="https://doi.org/10.1093/hmg/8.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887343">Armstrong et al. (1999)</a> studied a large family segregating autosomal dominant striate palmoplantar keratoderma. Affected individuals developed palmoplantar thickening in the first or early second decade of life. This was most prominent in a linear pattern along the flexor aspects of the fingers and over pressure points on the soles. There was a tendency to a coexistent milder, more diffuse background palmoplantar thickening in some. Individuals were prone to develop fissuring but there was no history of frank blister formation. There were no skin changes outside the palmoplantar areas, and no abnormalities of hair, nails, or teeth were noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887343" 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="Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J., McGrath, J. A. <strong>Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.</strong> J. Invest. Derm. 113: 940-946, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594734</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00783.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10594734">Whittock et al. (1999)</a> studied a 45-year-old male construction worker with a 20-year history of dry flaking skin on his palms and soles that gradually became thicker, exacerbated by heavy manual labor. Examination revealed hyperkeratosis with a marked linear appearance on his right palm, whereas the hyperkeratosis was more diffuse on his left palm and was more focal on the soles of his feet. The proband's mother had signs of focal plantar keratoderma, but her palms showed only mild skin dryness, and the proband's 8-year-old son showed some hyperkeratosis on the plantar aspect of the right great toe. The proband had 3 unaffected sibs and an unaffected 14-year-old daughter. Light microscopy of lesional palmar skin showed acanthosis and hyperkeratosis, with widening of keratinocyte intracellular spaces throughout the spinous layer. Ultrastructurally, desmosomes were smaller and fewer compared to site-matched control skin, and the attachment of the keratin filament network to the plasma membrane was perturbed. In addition, the keratin filaments were condensed and compacted in a perinuclear distribution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10594734" 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="#2" class="mim-tip-reference" title="Wan, H., Dopping-Hepenstal, P. J. C., Gratian, M. J., Stone, M. G., Zhu, G., Purkis, P. E., South, A. P., Keane, F., Armstrong, D. K. B., Buxton, R. S., McGrath, J. A., Eady, R. A. J. <strong>Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network.</strong> Brit. J. Derm. 150: 878-891, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15149499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15149499</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2004.05996.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15149499">Wan et al. (2004)</a> analyzed skin biopsies from patients previously studied by <a href="#1" class="mim-tip-reference" title="Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E. <strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong> Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887343</a>] [<a href="https://doi.org/10.1093/hmg/8.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887343">Armstrong et al. (1999)</a> and <a href="#3" class="mim-tip-reference" title="Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J., McGrath, J. A. <strong>Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.</strong> J. Invest. Derm. 113: 940-946, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594734</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00783.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10594734">Whittock et al. (1999)</a>, with PPKS due to mutations in the DSP gene (see MOLECULAR GENETICS). Confocal microscopy showed extensive reduction of desmoplakin, desmocollins (see <a href="/entry/125643">125643</a>), and plakophilin (see <a href="/entry/601975">601975</a>). In addition, there were marked alterations in keratin expression and organization, including expression of the basal cell keratin pair K5 (<a href="/entry/148040">148040</a>)/K14 (<a href="/entry/148066">148066</a>) in suprabasal layers, and restriction of K1 (<a href="/entry/139350">139350</a>) to a perinuclear location. Patches of K10 (<a href="/entry/148080">148080</a>)-positive and -negative cells were admixed within the rete ridges. <a href="#2" class="mim-tip-reference" title="Wan, H., Dopping-Hepenstal, P. J. C., Gratian, M. J., Stone, M. G., Zhu, G., Purkis, P. E., South, A. P., Keane, F., Armstrong, D. K. B., Buxton, R. S., McGrath, J. A., Eady, R. A. J. <strong>Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network.</strong> Brit. J. Derm. 150: 878-891, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15149499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15149499</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2004.05996.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15149499">Wan et al. (2004)</a> concluded that mutations in DSP causing PPKS2 may be associated with perturbations in epidermal differentiation accompanied by a marked disruption of several components of the epidermal scaffold, including desmosomes and the keratin intermediate filament (KIF) network. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10594734+9887343+15149499" 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 PPKS2 in the family reported by <a href="#1" class="mim-tip-reference" title="Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E. <strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong> Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887343</a>] [<a href="https://doi.org/10.1093/hmg/8.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887343">Armstrong et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887343" 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 large family segregating the striate form of palmoplantar keratoderma, <a href="#1" class="mim-tip-reference" title="Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E. <strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong> Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887343</a>] [<a href="https://doi.org/10.1093/hmg/8.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887343">Armstrong et al. (1999)</a> excluded linkage to the 18q21 region where the PPKS1 locus had been mapped. By microsatellite typing with markers mapping to other regions, they demonstrated linkage of the disorder (PPKS2) to 6p21 with a maximum lod score of 10.67. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887343" 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 large family with a striate form of palmoplantar keratoderma mapping to chromosome 6p21, <a href="#1" class="mim-tip-reference" title="Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E. <strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong> Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887343</a>] [<a href="https://doi.org/10.1093/hmg/8.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887343">Armstrong et al. (1999)</a> identified heterozygosity for a nonsense mutation in the DSP gene (Q331X; <a href="/entry/125647#0001">125647.0001</a>). The authors stated that this was the first inherited skin disease in which haploinsufficiency of the structural element was implicated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887343" 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 45-year-old man with striate palmoplantar keratoderma, <a href="#3" class="mim-tip-reference" title="Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J., McGrath, J. A. <strong>Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.</strong> J. Invest. Derm. 113: 940-946, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594734</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00783.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10594734">Whittock et al. (1999)</a> sequenced the desmoplakin gene and identified heterozygosity for a splice site mutation (<a href="/entry/125647#0024">125647.0024</a>) that was also found in his mildly affected mother and son as well as his 3 unaffected sibs. The authors concluded that trauma was clearly relevant to phenotypic expression in this family, since the clinical features were most prominent in the affected member who worked as a manual laborer, whereas his mother and sibs with sedentary jobs had mild or undetectable physical signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10594734" 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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Wan, H., Dopping-Hepenstal, P. J. C., Gratian, M. J., Stone, M. G., Zhu, G., Purkis, P. E., South, A. P., Keane, F., Armstrong, D. K. B., Buxton, R. S., McGrath, J. A., Eady, R. A. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15149499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15149499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15149499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.2004.05996.x" target="_blank">Full Text</a>]
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Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J., McGrath, J. A.
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<strong>Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.</strong>
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J. Invest. Derm. 113: 940-946, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10594734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10594734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10594734" 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.1523-1747.1999.00783.x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/13/2018
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<span class="mim-text-font">
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Carol A. Bocchini : 7/13/2009
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alopez : 02/08/2024
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alopez : 06/13/2018<br>carol : 11/23/2016<br>alopez : 11/22/2016<br>terry : 07/13/2009<br>carol : 7/13/2009
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<strong>#</strong> 612908
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KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2
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<em>Alternative titles; symbols</em>
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KERATODERMA, PALMOPLANTAR, STRIATE FORM II; KPPS2<br />
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STRIATE PALMOPLANTAR KERATODERMA II; SPPK2
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<strong>ORPHA:</strong> 50942;
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<strong>DO:</strong> 0081109;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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6p24.3
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<span class="mim-font">
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Keratosis palmoplantaris striata II
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<span class="mim-font">
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612908
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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DSP
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125647
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that keratosis palmoplantaris striata II (PPKS2) is caused by heterozygous mutation in the DSP gene (125647) on chromosome 6p24.</p>
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<strong>Description</strong>
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<p>PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999). </p><p>For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (148700).</p>
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<strong>Clinical Features</strong>
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<p>Armstrong et al. (1999) studied a large family segregating autosomal dominant striate palmoplantar keratoderma. Affected individuals developed palmoplantar thickening in the first or early second decade of life. This was most prominent in a linear pattern along the flexor aspects of the fingers and over pressure points on the soles. There was a tendency to a coexistent milder, more diffuse background palmoplantar thickening in some. Individuals were prone to develop fissuring but there was no history of frank blister formation. There were no skin changes outside the palmoplantar areas, and no abnormalities of hair, nails, or teeth were noted. </p><p>Whittock et al. (1999) studied a 45-year-old male construction worker with a 20-year history of dry flaking skin on his palms and soles that gradually became thicker, exacerbated by heavy manual labor. Examination revealed hyperkeratosis with a marked linear appearance on his right palm, whereas the hyperkeratosis was more diffuse on his left palm and was more focal on the soles of his feet. The proband's mother had signs of focal plantar keratoderma, but her palms showed only mild skin dryness, and the proband's 8-year-old son showed some hyperkeratosis on the plantar aspect of the right great toe. The proband had 3 unaffected sibs and an unaffected 14-year-old daughter. Light microscopy of lesional palmar skin showed acanthosis and hyperkeratosis, with widening of keratinocyte intracellular spaces throughout the spinous layer. Ultrastructurally, desmosomes were smaller and fewer compared to site-matched control skin, and the attachment of the keratin filament network to the plasma membrane was perturbed. In addition, the keratin filaments were condensed and compacted in a perinuclear distribution. </p><p>Wan et al. (2004) analyzed skin biopsies from patients previously studied by Armstrong et al. (1999) and Whittock et al. (1999), with PPKS due to mutations in the DSP gene (see MOLECULAR GENETICS). Confocal microscopy showed extensive reduction of desmoplakin, desmocollins (see 125643), and plakophilin (see 601975). In addition, there were marked alterations in keratin expression and organization, including expression of the basal cell keratin pair K5 (148040)/K14 (148066) in suprabasal layers, and restriction of K1 (139350) to a perinuclear location. Patches of K10 (148080)-positive and -negative cells were admixed within the rete ridges. Wan et al. (2004) concluded that mutations in DSP causing PPKS2 may be associated with perturbations in epidermal differentiation accompanied by a marked disruption of several components of the epidermal scaffold, including desmosomes and the keratin intermediate filament (KIF) network. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PPKS2 in the family reported by Armstrong et al. (1999) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>In a large family segregating the striate form of palmoplantar keratoderma, Armstrong et al. (1999) excluded linkage to the 18q21 region where the PPKS1 locus had been mapped. By microsatellite typing with markers mapping to other regions, they demonstrated linkage of the disorder (PPKS2) to 6p21 with a maximum lod score of 10.67. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a large family with a striate form of palmoplantar keratoderma mapping to chromosome 6p21, Armstrong et al. (1999) identified heterozygosity for a nonsense mutation in the DSP gene (Q331X; 125647.0001). The authors stated that this was the first inherited skin disease in which haploinsufficiency of the structural element was implicated. </p><p>In a 45-year-old man with striate palmoplantar keratoderma, Whittock et al. (1999) sequenced the desmoplakin gene and identified heterozygosity for a splice site mutation (125647.0024) that was also found in his mildly affected mother and son as well as his 3 unaffected sibs. The authors concluded that trauma was clearly relevant to phenotypic expression in this family, since the clinical features were most prominent in the affected member who worked as a manual laborer, whereas his mother and sibs with sedentary jobs had mild or undetectable physical signs. </p>
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<strong>REFERENCES</strong>
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Armstrong, D. K., McKenna, K. E., Purkis, P. E., Green, K. J., Eady, R. A. J., Leigh, I. M., Hughes, A. E.
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<strong>Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.</strong>
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Hum. Molec. Genet. 8: 143-148, 1999. Note: Erratum: Hum. Molec. Genet. 8: 943 only, 1999.
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[PubMed: 9887343]
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[Full Text: https://doi.org/10.1093/hmg/8.1.143]
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Wan, H., Dopping-Hepenstal, P. J. C., Gratian, M. J., Stone, M. G., Zhu, G., Purkis, P. E., South, A. P., Keane, F., Armstrong, D. K. B., Buxton, R. S., McGrath, J. A., Eady, R. A. J.
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<strong>Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network.</strong>
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Brit. J. Derm. 150: 878-891, 2004.
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[PubMed: 15149499]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2004.05996.x]
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Whittock, N. V., Ashton, G. H. S., Dopping-Hepenstal, P. J. C., Gratian, M. J., Keane, F. M., Eady, R. A. J., McGrath, J. A.
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<strong>Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.</strong>
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J. Invest. Derm. 113: 940-946, 1999.
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[PubMed: 10594734]
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[Full Text: https://doi.org/10.1046/j.1523-1747.1999.00783.x]
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/13/2018
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 7/13/2009
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/08/2024<br>alopez : 06/13/2018<br>carol : 11/23/2016<br>alopez : 11/22/2016<br>terry : 07/13/2009<br>carol : 7/13/2009
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</span>
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