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<title>
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Entry
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- #179850 - DOWLING-DEGOS DISEASE 1; DDD1
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- OMIM
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<span class="h4">#179850</span>
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<br />
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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="/phenotypicSeries/PS179850"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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=(DOWLING-DEGOS DISEASE) OR (KRT5)" 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=11171&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/2326" 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=179850[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=79145" 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:0060256" 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/179850" 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://wormbase.org/resources/disease/DOID:0060256" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div 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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<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> 79145<br />
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<strong>DO:</strong> 0060256<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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179850
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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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DOWLING-DEGOS DISEASE 1; DDD1
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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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<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">
|
|
DDD<br />
|
|
RETICULAR PIGMENT ANOMALY OF FLEXURES
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
|
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/12/410?start=-3&limit=10&highlight=410">
|
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12q13.13
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Dowling-Degos disease 1
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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/179850"> 179850 </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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KRT5
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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/148040"> 148040 </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/179850" 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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|
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<div class="btn-group">
|
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|
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<a href="/phenotypicSeries/PS179850" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<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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|
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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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/179850" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/179850" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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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>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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|
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</div>
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</div>
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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">
|
|
|
|
- Progressive reticulate hyperpigmentation (axillae, groin, perineal, perianal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674275</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007456" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007456</a>]</span><br /> -
|
|
Hyperkeratotic dark-brown papules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674276</a>]</span><br /> -
|
|
Pitted, perioral acneiform scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674277</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">
|
|
|
|
- Filiform epithelial downgrowth of epidermal rete ridges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674278</a>]</span><br /> -
|
|
Acantholytic changes (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805922</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
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|
|
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|
|
</div>
|
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|
|
</div>
|
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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 after puberty<br /> -
|
|
Reticulate acropigmentation of Kitamura (hyperpigmentation found primarily in hands and feet) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239133004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239133004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0406811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0406811</a>]</span><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 keratin 5 gene (KRT5, <a href="/entry/148040#0018">148040.0018</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Reticulate pigment disorders
|
|
- <a href="/phenotypicSeries/PS179850">PS179850</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1194?start=-3&limit=10&highlight=1194"> 1q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127400"> Dyschromatosis symmetrica hereditaria </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/127400"> 127400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146920"> ADAR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146920"> 146920 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/572?start=-3&limit=10&highlight=572"> 3q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615696"> Dowling-Degos disease 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615696"> 615696 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615618"> POGLUT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615618"> 615618 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/410?start=-3&limit=10&highlight=410"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179850"> Dowling-Degos disease 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179850"> 179850 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> KRT5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148040"> 148040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Dowling-Degos disease-1 (DDD1) is caused by heterozygous mutation in the KRT5 gene (<a href="/entry/148040">148040</a>) on chromosome 12q13.</p>
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<p>Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by <a href="#13" class="mim-tip-reference" title="Li, M., Cheng, R., Liang, J., Yan, H., Zhang, H., Yang, L., Li, C., Jiao, Q., Lu, Z., He, J., Ji, J., Shen, Z., Li, C., Hao, F., Yu, H., Yao, Z. <strong>Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.</strong> Am. J. Hum. Genet. 92: 895-903, 2013. Note: Erratum: Am. J. Hum. Genet. 92: 1014 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684010</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684010[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/10.1016/j.ajhg.2013.04.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23684010">Li et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23684010" 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><strong><em>Review of Reticulate Pigment Disorders</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T. <strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong> Europ. J. Derm. 22: 596-604, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>] [<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23018017">Muller et al. (2012)</a> reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; <a href="/entry/615537">615537</a>), reticulate acropigmentation of Dohi (RAD; <a href="/entry/127400">127400</a>), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. <a href="#16" class="mim-tip-reference" title="Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T. <strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong> Europ. J. Derm. 22: 596-604, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>] [<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23018017">Muller et al. (2012)</a> also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). <a href="#16" class="mim-tip-reference" title="Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T. <strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong> Europ. J. Derm. 22: 596-604, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>] [<a href="https://doi.org/10.1684/ejd.2012.1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23018017">Muller et al. (2012)</a> concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23018017" 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><strong><em>Genetic Heterogeneity of Reticulate Pigment Disorders</em></strong></p><p>
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Dowling-Degos disease-2 (DDD2; <a href="/entry/615327">615327</a>) is caused by mutation in the POFUT1 gene (<a href="/entry/607491">607491</a>) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; <a href="/entry/615674">615674</a>) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; <a href="/entry/615696">615696</a>) is caused by mutation in the POGLUT1 gene (<a href="/entry/615618">615618</a>) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; <a href="/entry/127400">127400</a>), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (<a href="/entry/146920">146920</a>) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; <a href="/entry/615537">615537</a>) is caused by mutation in the ADAM10 gene (<a href="/entry/602192">602192</a>) on chromosome 15q21.</p>
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<p>Dowling-Degos disease is an autosomal dominant form of reticulate pigmentary disorder. It was first described by <a href="#8" class="mim-tip-reference" title="Dowling, G. B., Freudenthal, W. <strong>Acanthosis nigricans.</strong> Brit. J. Derm. 50: 467-471, 1938."None>Dowling and Freudenthal (1938)</a> and was termed 'dermatose reticulee des plis' (reticulate dermatosis of flexures) by <a href="#7" class="mim-tip-reference" title="Degos, R., Ossipowski, B. <strong>Dermatose pigmentaire reticulee des plis.</strong> Ann. Derm. 81: 147-151, 1954."None>Degos and Ossipowski (1954)</a>.</p><p>Individuals with Dowling-Degos disease develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Pitted perioral acneiform scars and genital and perianal reticulated pigmented lesions have also been described (<a href="#14" class="mim-tip-reference" title="Milde, P., Goerz, G., Plewig, G. <strong>Morbus Dowling-Degos mit ausschliessich genitaler Manifestation.</strong> Hautarzt 43: 369-372, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1628971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1628971</a>]" pmid="1628971">Milde et al., 1992</a>; <a href="#11" class="mim-tip-reference" title="Jafari, R., Tronnier, M., Vakilzadeh, F. <strong>Morbus Dowling-Degos in genitoperianal localisation in a mother and daughter.</strong> Akt. Derm. 29: 240-242, 2003."None>Jafari et al., 2003</a>). Patients usually show no abnormalities of the hair or nails. Histology shows filiform epithelial downgrowth of epidermal rete ridges, with a concentration of melanin at the tips. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1628971" 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>Reticulate acropigmentation of Kitamura and Dowling-Degos disease are characterized by reticulate patterns of hyperpigmented macules without hypopigmented macules, affecting acral areas in the former and flexures in the latter (<a href="#1" class="mim-tip-reference" title="Al Hawsawi, K., Al Aboud, K., Alfadley, A., Al Aboud, D. <strong>Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report.</strong> Int. J. Derm. 41: 518-520, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12207773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12207773</a>] [<a href="https://doi.org/10.1046/j.1365-4362.2002.01552_6.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12207773">Al Hawsawi et al., 2002</a>). Several groups considered Kitamura reticulate acropigmentation and DDD to be the same disorder with different spectra (e.g., <a href="#4" class="mim-tip-reference" title="Cox, N. H., Long, E. <strong>Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease.</strong> Brit. J. Derm. 125: 169-171, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1911300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1911300</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1991.tb06065.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1911300">Cox and Long, 1991</a>; <a href="#12" class="mim-tip-reference" title="Lestringant, G. G., Masouye, I., Frossard, P. M., Adeghate, E., Galadari, I. H. <strong>Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.</strong> Dermatology 195: 337-343, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529553</a>] [<a href="https://doi.org/10.1159/000245984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529553">Lestringant et al., 1997</a>). <a href="#18" class="mim-tip-reference" title="Thami, G. P., Jaswal, R., Kanwar, A. J., Radotra, B. D., Singh, I. P. <strong>Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations.</strong> Dermatology 196: 350-351, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9621148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9621148</a>] [<a href="https://doi.org/10.1159/000017913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9621148">Thami et al. (1998)</a> described a large kindred in which reticulate acropigmentation of Kitamura and acropigmentation of Dohi were associated with features of DDD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9529553+12207773+1911300+9621148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Milde, P., Suss, R., Megahed, M., Goerz, G. <strong>Morbus Dowling-Degos-Kitamura.</strong> Z. Hautkr. 69: 282-283, 1994."None>Milde et al. (1994)</a> described the disorder in 2 sisters as Dowling-Degos-Kitamura disease.</p><p><a href="#17" class="mim-tip-reference" title="Shen, Z., Chen, L., Ye, Q., Hao, F., dos Santos, V. M., Yang, X., Zhong, B. <strong>Coexistent Dowling-Degos disease and reticulate acropigmentation of Kitamura with progressive seborrheic keratosis. (Letter)</strong> Cutis 87: 73-75, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21416772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21416772</a>]" pmid="21416772">Shen et al. (2011)</a> described a 55-year-old woman with reticulate hyperpigmentation on the neck, axillae, inframammary region, inguinal areas, extremities, and the dorsa of hands and feet. Scalp hair and nails were normal, but axillary hair was sparse. The eruptions began in childhood and became more extensive throughout adulthood, with pigmentation worsening after sun exposure. Beginning at age 40, a large number of seborrheic keratosis-like lesions gradually developed, predominantly in the flexural pigmented areas, and she also had pitted perioral scars. Some family members had a similar presentation. Histopathology of inguinal skin showed thin branching and elongation of rete ridges with basal hyperpigmentation. Biopsy of a seborrheic papule showed features typical of adenoid or reticulated seborrheic keratoses including epidermal thickening consisting of basaloid cells and multiple keratin-filled cysts. <a href="#17" class="mim-tip-reference" title="Shen, Z., Chen, L., Ye, Q., Hao, F., dos Santos, V. M., Yang, X., Zhong, B. <strong>Coexistent Dowling-Degos disease and reticulate acropigmentation of Kitamura with progressive seborrheic keratosis. (Letter)</strong> Cutis 87: 73-75, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21416772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21416772</a>]" pmid="21416772">Shen et al. (2011)</a> suggested that this patient might represent an unusual variant of DDD, associated with RAK and scarce axillary hair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21416772" 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>Autosomal dominant inheritance of Dowling-Degos disease was established by <a href="#6" class="mim-tip-reference" title="Crovato, F., Nazzari, G., Rebora, A. <strong>Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition.</strong> Brit. J. Derm. 108: 473-476, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6838773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6838773</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1983.tb04602.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6838773">Crovato et al. (1983)</a> and <a href="#3" class="mim-tip-reference" title="Biltz, H., Kiessling, M. <strong>Dowling-Degos disease--an autosomally dominant genodermatosis.</strong> Z. Hautkr. 63: 642-644, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3188604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3188604</a>]" pmid="3188604">Biltz and Kiessling (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6838773+3188604" 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="Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R. <strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong> Am. J. Hum. Genet. 78: 510-519, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16465624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16465624</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16465624[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/10.1086/500850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16465624">Betz et al. (2006)</a> performed a genomewide linkage analysis of the 2 German families described by <a href="#3" class="mim-tip-reference" title="Biltz, H., Kiessling, M. <strong>Dowling-Degos disease--an autosomally dominant genodermatosis.</strong> Z. Hautkr. 63: 642-644, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3188604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3188604</a>]" pmid="3188604">Biltz and Kiessling (1988)</a> and <a href="#15" class="mim-tip-reference" title="Milde, P., Suss, R., Megahed, M., Goerz, G. <strong>Morbus Dowling-Degos-Kitamura.</strong> Z. Hautkr. 69: 282-283, 1994."None>Milde et al. (1994)</a> and mapped a DDD locus to 12q13.11-q15, with a total lod score of 4.42 (theta = 0.0) for marker D12S368. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3188604+16465624" 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 region on 12q to which <a href="#2" class="mim-tip-reference" title="Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R. <strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong> Am. J. Hum. Genet. 78: 510-519, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16465624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16465624</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16465624[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/10.1086/500850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16465624">Betz et al. (2006)</a> mapped a locus for DDD includes the keratin gene cluster. <a href="#2" class="mim-tip-reference" title="Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R. <strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong> Am. J. Hum. Genet. 78: 510-519, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16465624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16465624</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16465624[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/10.1086/500850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16465624">Betz et al. (2006)</a> screened the cluster for mutations and identified heterozygosity for loss-of-function mutations in the keratin-5 gene (418dupA, <a href="/entry/148040#0018">148040.0018</a>; S5X, <a href="/entry/148040#0019">148040.0019</a>) in all affected members of the families described by <a href="#3" class="mim-tip-reference" title="Biltz, H., Kiessling, M. <strong>Dowling-Degos disease--an autosomally dominant genodermatosis.</strong> Z. Hautkr. 63: 642-644, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3188604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3188604</a>]" pmid="3188604">Biltz and Kiessling (1988)</a> and <a href="#15" class="mim-tip-reference" title="Milde, P., Suss, R., Megahed, M., Goerz, G. <strong>Morbus Dowling-Degos-Kitamura.</strong> Z. Hautkr. 69: 282-283, 1994."None>Milde et al. (1994)</a> and in 6 unrelated patients with DDD. This was said to be the first identified mutation that led to haploinsufficiency in a keratin gene. The finding, along with the results from additional functional studies, suggested a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3188604+16465624" 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>The findings of <a href="#2" class="mim-tip-reference" title="Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R. <strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong> Am. J. Hum. Genet. 78: 510-519, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16465624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16465624</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16465624[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/10.1086/500850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16465624">Betz et al. (2006)</a> together with those of <a href="#19" class="mim-tip-reference" title="Uttam, J., Hutton, E., Coulombe, P. A., Anton-Lamprecht, I., Yu, Q.-C., Gedde-Dahl, T., Jr., Fine, J.-D., Fuchs, E. <strong>The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.</strong> Proc. Nat. Acad. Sci. 93: 9079-9084, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8799157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8799157</a>] [<a href="https://doi.org/10.1073/pnas.93.17.9079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8799157">Uttam et al. (1996)</a> demonstrating a missense mutation in the KRT5 gene (P25L; <a href="/entry/148040#0009">148040.0009</a>) as the cause of epidermolysis bullosa simplex with mottled pigmentation (<a href="/entry/131960">131960</a>) suggested a distinct role for KRT5 in melanosome transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16465624+8799157" 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 7 unrelated patients who had been diagnosed with Galli-Galli disease (GGD), in which the clinical presentation is identical to DDD but patients exhibit acantholysis on histopathology, <a href="#9" class="mim-tip-reference" title="Hanneken, S., Rutten, A., Pasternack, S. M., Eigelshoven, S., El Shabrawi-Caelen, L., Wenzel, J., Braun-Falco, M., Ruzicka, T., Nothen, M. M., Kruse, R., Betz, R. C. <strong>Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.</strong> Brit. J. Derm. 163: 197-200, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20222933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20222933</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09741.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20222933">Hanneken et al. (2010)</a> sequenced the KRT5 gene and identified heterozygosity for the 418dupA mutation in 5 of them. The duplication was also present in 4 clinically affected family members of 1 of the probands. In addition, the authors reviewed the histopathologic findings in 3 DDD patients previously found to carry the 418dupA mutation in KRT5 by <a href="#2" class="mim-tip-reference" title="Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R. <strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong> Am. J. Hum. Genet. 78: 510-519, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16465624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16465624</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16465624[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/10.1086/500850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16465624">Betz et al. (2006)</a> and in 3 DDD patients who did not carry a mutation in KRT5, and found characteristic acantholytic changes in biopsy specimens from all 6 patients. <a href="#9" class="mim-tip-reference" title="Hanneken, S., Rutten, A., Pasternack, S. M., Eigelshoven, S., El Shabrawi-Caelen, L., Wenzel, J., Braun-Falco, M., Ruzicka, T., Nothen, M. M., Kruse, R., Betz, R. C. <strong>Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.</strong> Brit. J. Derm. 163: 197-200, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20222933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20222933</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09741.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20222933">Hanneken et al. (2010)</a> concluded that GGD is a variant of DDD rather than a distinct entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20222933+16465624" 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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<a href="#Crovato1983" class="mim-tip-reference" title="Crovato, F., Nazzari, G., Rebora, A. <strong>Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition.</strong> Brit. J. Derm. 108: 473-476, 1983.">Crovato et al. (1983)</a>; <a href="#Howell1978" class="mim-tip-reference" title="Howell, J. B., Freeman, R. G. <strong>Reticular pigmented anomaly of the flexures.</strong> Arch. Derm. 114: 400-403, 1978.">Howell and Freeman (1978)</a>; <a href="#Wilson-Jones1974" class="mim-tip-reference" title="Wilson-Jones, E., Grice, K. <strong>Reticulate pigmented anomaly of the flexures (Dowling, Degos): a new genodermatosis. (Abstract)</strong> Brit. J. Derm. 91 (suppl.): 36 only, 1974.">Wilson-Jones and
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Al Hawsawi, K., Al Aboud, K., Alfadley, A., Al Aboud, D.
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<strong>Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report.</strong>
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Int. J. Derm. 41: 518-520, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12207773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12207773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12207773" 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.1365-4362.2002.01552_6.x" target="_blank">Full Text</a>]
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Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R.
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<strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong>
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Am. J. Hum. Genet. 78: 510-519, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16465624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16465624</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16465624[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=16465624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Z. Hautkr. 63: 642-644, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3188604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3188604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3188604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease.</strong>
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Brit. J. Derm. 125: 169-171, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1911300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1911300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1911300" 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.1365-2133.1991.tb06065.x" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Crovato1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Crovato, F., Desirello, G., Rebora, A.
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<strong>Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation?</strong>
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Brit. J. Derm. 109: 105-110, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6860566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6860566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6860566" 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.1365-2133.1983.tb03998.x" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Crovato1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Crovato, F., Nazzari, G., Rebora, A.
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<strong>Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition.</strong>
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Brit. J. Derm. 108: 473-476, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6838773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6838773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6838773" 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.1365-2133.1983.tb04602.x" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Degos1954" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Degos, R., Ossipowski, B.
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<strong>Dermatose pigmentaire reticulee des plis.</strong>
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Ann. Derm. 81: 147-151, 1954.
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<a id="8" class="mim-anchor"></a>
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<a id="Dowling1938" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dowling, G. B., Freudenthal, W.
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<strong>Acanthosis nigricans.</strong>
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Brit. J. Derm. 50: 467-471, 1938.
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<a id="9" class="mim-anchor"></a>
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<a id="Hanneken2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanneken, S., Rutten, A., Pasternack, S. M., Eigelshoven, S., El Shabrawi-Caelen, L., Wenzel, J., Braun-Falco, M., Ruzicka, T., Nothen, M. M., Kruse, R., Betz, R. C.
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<strong>Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.</strong>
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Brit. J. Derm. 163: 197-200, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20222933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20222933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20222933" 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.1365-2133.2010.09741.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Howell1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Howell, J. B., Freeman, R. G.
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<strong>Reticular pigmented anomaly of the flexures.</strong>
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Arch. Derm. 114: 400-403, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/629578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">629578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=629578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Jafari2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jafari, R., Tronnier, M., Vakilzadeh, F.
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<strong>Morbus Dowling-Degos in genitoperianal localisation in a mother and daughter.</strong>
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Akt. Derm. 29: 240-242, 2003.
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<a id="12" class="mim-anchor"></a>
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<a id="Lestringant1997" class="mim-anchor"></a>
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<div class="">
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Lestringant, G. G., Masouye, I., Frossard, P. M., Adeghate, E., Galadari, I. H.
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<strong>Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.</strong>
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Dermatology 195: 337-343, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529553" 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/10.1159/000245984" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Li2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, M., Cheng, R., Liang, J., Yan, H., Zhang, H., Yang, L., Li, C., Jiao, Q., Lu, Z., He, J., Ji, J., Shen, Z., Li, C., Hao, F., Yu, H., Yao, Z.
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<strong>Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.</strong>
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Am. J. Hum. Genet. 92: 895-903, 2013. Note: Erratum: Am. J. Hum. Genet. 92: 1014 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23684010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23684010</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23684010[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=23684010" 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/10.1016/j.ajhg.2013.04.022" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Milde1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Milde, P., Goerz, G., Plewig, G.
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<strong>Morbus Dowling-Degos mit ausschliessich genitaler Manifestation.</strong>
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Hautarzt 43: 369-372, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1628971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1628971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1628971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Milde1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Milde, P., Suss, R., Megahed, M., Goerz, G.
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<strong>Morbus Dowling-Degos-Kitamura.</strong>
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Z. Hautkr. 69: 282-283, 1994.
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<a id="16" class="mim-anchor"></a>
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<a id="Muller2012" class="mim-anchor"></a>
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Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T.
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<strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong>
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Europ. J. Derm. 22: 596-604, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23018017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23018017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23018017" 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/10.1684/ejd.2012.1829" target="_blank">Full Text</a>]
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<a id="Shen2011" class="mim-anchor"></a>
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Shen, Z., Chen, L., Ye, Q., Hao, F., dos Santos, V. M., Yang, X., Zhong, B.
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<strong>Coexistent Dowling-Degos disease and reticulate acropigmentation of Kitamura with progressive seborrheic keratosis. (Letter)</strong>
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Cutis 87: 73-75, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21416772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21416772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21416772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Thami1998" class="mim-anchor"></a>
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<div class="">
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Thami, G. P., Jaswal, R., Kanwar, A. J., Radotra, B. D., Singh, I. P.
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<strong>Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations.</strong>
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Dermatology 196: 350-351, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9621148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9621148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9621148" 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/10.1159/000017913" target="_blank">Full Text</a>]
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<a id="Uttam1996" class="mim-anchor"></a>
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Uttam, J., Hutton, E., Coulombe, P. A., Anton-Lamprecht, I., Yu, Q.-C., Gedde-Dahl, T., Jr., Fine, J.-D., Fuchs, E.
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<strong>The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.</strong>
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Proc. Nat. Acad. Sci. 93: 9079-9084, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8799157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8799157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8799157" 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/10.1073/pnas.93.17.9079" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Wilson-Jones1974" class="mim-anchor"></a>
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<div class="">
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Wilson-Jones, E., Grice, K.
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<strong>Reticulate pigmented anomaly of the flexures (Dowling, Degos): a new genodermatosis. (Abstract)</strong>
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Brit. J. Derm. 91 (suppl.): 36 only, 1974.
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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 : 11/26/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/20/2013<br>Marla J. F. O'Neill - updated : 7/23/2013<br>Victor A. McKusick - updated : 2/27/2006
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Victor A. McKusick : 6/23/1986
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carol : 06/23/2016<br>carol : 3/21/2014<br>alopez : 3/18/2014<br>carol : 2/27/2014<br>carol : 11/26/2013<br>mcolton : 11/26/2013<br>carol : 11/25/2013<br>mcolton : 11/20/2013<br>carol : 7/23/2013<br>alopez : 4/3/2006<br>alopez : 3/1/2006<br>alopez : 2/28/2006<br>terry : 2/27/2006<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/23/1986
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<span class="mim-font">
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<strong>#</strong> 179850
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</span>
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</h3>
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<h3>
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<span class="mim-font">
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DOWLING-DEGOS DISEASE 1; DDD1
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DDD<br />
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RETICULAR PIGMENT ANOMALY OF FLEXURES
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 79145;
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<strong>DO:</strong> 0060256;
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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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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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12q13.13
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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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Dowling-Degos disease 1
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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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179850
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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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Autosomal dominant
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</span>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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KRT5
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<td>
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<span class="mim-font">
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148040
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Dowling-Degos disease-1 (DDD1) is caused by heterozygous mutation in the KRT5 gene (148040) on chromosome 12q13.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). </p><p><strong><em>Review of Reticulate Pigment Disorders</em></strong></p><p>
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Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. </p><p><strong><em>Genetic Heterogeneity of Reticulate Pigment Disorders</em></strong></p><p>
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Dowling-Degos disease-2 (DDD2; 615327) is caused by mutation in the POFUT1 gene (607491) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; 615674) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; 615696) is caused by mutation in the POGLUT1 gene (615618) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; 127400), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (146920) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; 615537) is caused by mutation in the ADAM10 gene (602192) on chromosome 15q21.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dowling-Degos disease is an autosomal dominant form of reticulate pigmentary disorder. It was first described by Dowling and Freudenthal (1938) and was termed 'dermatose reticulee des plis' (reticulate dermatosis of flexures) by Degos and Ossipowski (1954).</p><p>Individuals with Dowling-Degos disease develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Pitted perioral acneiform scars and genital and perianal reticulated pigmented lesions have also been described (Milde et al., 1992; Jafari et al., 2003). Patients usually show no abnormalities of the hair or nails. Histology shows filiform epithelial downgrowth of epidermal rete ridges, with a concentration of melanin at the tips. </p><p>Reticulate acropigmentation of Kitamura and Dowling-Degos disease are characterized by reticulate patterns of hyperpigmented macules without hypopigmented macules, affecting acral areas in the former and flexures in the latter (Al Hawsawi et al., 2002). Several groups considered Kitamura reticulate acropigmentation and DDD to be the same disorder with different spectra (e.g., Cox and Long, 1991; Lestringant et al., 1997). Thami et al. (1998) described a large kindred in which reticulate acropigmentation of Kitamura and acropigmentation of Dohi were associated with features of DDD. </p><p>Milde et al. (1994) described the disorder in 2 sisters as Dowling-Degos-Kitamura disease.</p><p>Shen et al. (2011) described a 55-year-old woman with reticulate hyperpigmentation on the neck, axillae, inframammary region, inguinal areas, extremities, and the dorsa of hands and feet. Scalp hair and nails were normal, but axillary hair was sparse. The eruptions began in childhood and became more extensive throughout adulthood, with pigmentation worsening after sun exposure. Beginning at age 40, a large number of seborrheic keratosis-like lesions gradually developed, predominantly in the flexural pigmented areas, and she also had pitted perioral scars. Some family members had a similar presentation. Histopathology of inguinal skin showed thin branching and elongation of rete ridges with basal hyperpigmentation. Biopsy of a seborrheic papule showed features typical of adenoid or reticulated seborrheic keratoses including epidermal thickening consisting of basaloid cells and multiple keratin-filled cysts. Shen et al. (2011) suggested that this patient might represent an unusual variant of DDD, associated with RAK and scarce axillary hair. </p>
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</span>
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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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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autosomal dominant inheritance of Dowling-Degos disease was established by Crovato et al. (1983) and Biltz and Kiessling (1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Betz et al. (2006) performed a genomewide linkage analysis of the 2 German families described by Biltz and Kiessling (1988) and Milde et al. (1994) and mapped a DDD locus to 12q13.11-q15, with a total lod score of 4.42 (theta = 0.0) for marker D12S368. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The region on 12q to which Betz et al. (2006) mapped a locus for DDD includes the keratin gene cluster. Betz et al. (2006) screened the cluster for mutations and identified heterozygosity for loss-of-function mutations in the keratin-5 gene (418dupA, 148040.0018; S5X, 148040.0019) in all affected members of the families described by Biltz and Kiessling (1988) and Milde et al. (1994) and in 6 unrelated patients with DDD. This was said to be the first identified mutation that led to haploinsufficiency in a keratin gene. The finding, along with the results from additional functional studies, suggested a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage. </p><p>The findings of Betz et al. (2006) together with those of Uttam et al. (1996) demonstrating a missense mutation in the KRT5 gene (P25L; 148040.0009) as the cause of epidermolysis bullosa simplex with mottled pigmentation (131960) suggested a distinct role for KRT5 in melanosome transport. </p><p>In 7 unrelated patients who had been diagnosed with Galli-Galli disease (GGD), in which the clinical presentation is identical to DDD but patients exhibit acantholysis on histopathology, Hanneken et al. (2010) sequenced the KRT5 gene and identified heterozygosity for the 418dupA mutation in 5 of them. The duplication was also present in 4 clinically affected family members of 1 of the probands. In addition, the authors reviewed the histopathologic findings in 3 DDD patients previously found to carry the 418dupA mutation in KRT5 by Betz et al. (2006) and in 3 DDD patients who did not carry a mutation in KRT5, and found characteristic acantholytic changes in biopsy specimens from all 6 patients. Hanneken et al. (2010) concluded that GGD is a variant of DDD rather than a distinct entity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Crovato et al. (1983); Howell and Freeman (1978); Wilson-Jones and
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Grice (1974)
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Al Hawsawi, K., Al Aboud, K., Alfadley, A., Al Aboud, D.
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<strong>Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report.</strong>
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Int. J. Derm. 41: 518-520, 2002.
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[PubMed: 12207773]
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[Full Text: https://doi.org/10.1046/j.1365-4362.2002.01552_6.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Betz, R. C., Planko, L., Eigelshoven, S., Hanneken, S., Pasternack, S. M., Bussow, H., Van Den Bogaert, K., Wenzel, J., Braun-Falco, M., Rutten, A., Rogers, M. A., Ruzicka, T., Nothen, M. M., Magin, T. M., Kruse, R.
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<strong>Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.</strong>
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Am. J. Hum. Genet. 78: 510-519, 2006.
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[PubMed: 16465624]
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[Full Text: https://doi.org/10.1086/500850]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Biltz, H., Kiessling, M.
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<strong>Dowling-Degos disease--an autosomally dominant genodermatosis.</strong>
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Z. Hautkr. 63: 642-644, 1988.
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[PubMed: 3188604]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cox, N. H., Long, E.
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<strong>Dowling-Degos disease and Kitamura's reticulate acropigmentation: support for the concept of a single disease.</strong>
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Brit. J. Derm. 125: 169-171, 1991.
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[PubMed: 1911300]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1991.tb06065.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Crovato, F., Desirello, G., Rebora, A.
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<strong>Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation?</strong>
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Brit. J. Derm. 109: 105-110, 1983.
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[PubMed: 6860566]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1983.tb03998.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Crovato, F., Nazzari, G., Rebora, A.
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<strong>Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition.</strong>
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Brit. J. Derm. 108: 473-476, 1983.
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[PubMed: 6838773]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1983.tb04602.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Degos, R., Ossipowski, B.
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<strong>Dermatose pigmentaire reticulee des plis.</strong>
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Ann. Derm. 81: 147-151, 1954.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dowling, G. B., Freudenthal, W.
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<strong>Acanthosis nigricans.</strong>
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Brit. J. Derm. 50: 467-471, 1938.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hanneken, S., Rutten, A., Pasternack, S. M., Eigelshoven, S., El Shabrawi-Caelen, L., Wenzel, J., Braun-Falco, M., Ruzicka, T., Nothen, M. M., Kruse, R., Betz, R. C.
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<strong>Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.</strong>
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Brit. J. Derm. 163: 197-200, 2010.
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[PubMed: 20222933]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2010.09741.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Howell, J. B., Freeman, R. G.
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<strong>Reticular pigmented anomaly of the flexures.</strong>
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Arch. Derm. 114: 400-403, 1978.
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[PubMed: 629578]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jafari, R., Tronnier, M., Vakilzadeh, F.
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<strong>Morbus Dowling-Degos in genitoperianal localisation in a mother and daughter.</strong>
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Akt. Derm. 29: 240-242, 2003.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lestringant, G. G., Masouye, I., Frossard, P. M., Adeghate, E., Galadari, I. H.
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<strong>Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.</strong>
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Dermatology 195: 337-343, 1997.
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[PubMed: 9529553]
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[Full Text: https://doi.org/10.1159/000245984]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Li, M., Cheng, R., Liang, J., Yan, H., Zhang, H., Yang, L., Li, C., Jiao, Q., Lu, Z., He, J., Ji, J., Shen, Z., Li, C., Hao, F., Yu, H., Yao, Z.
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<strong>Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.</strong>
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.04.022]
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</p>
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<p class="mim-text-font">
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Milde, P., Goerz, G., Plewig, G.
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<strong>Morbus Dowling-Degos mit ausschliessich genitaler Manifestation.</strong>
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<p class="mim-text-font">
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Milde, P., Suss, R., Megahed, M., Goerz, G.
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<strong>Morbus Dowling-Degos-Kitamura.</strong>
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Z. Hautkr. 69: 282-283, 1994.
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Muller, C. S. L., Tremezaygues, L., Pfohler, C., Vogt, T.
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<strong>The spectrum of reticulate pigment disorders of the skin revisited.</strong>
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Europ. J. Derm. 22: 596-604, 2012.
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Shen, Z., Chen, L., Ye, Q., Hao, F., dos Santos, V. M., Yang, X., Zhong, B.
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<strong>Coexistent Dowling-Degos disease and reticulate acropigmentation of Kitamura with progressive seborrheic keratosis. (Letter)</strong>
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Cutis 87: 73-75, 2011.
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Thami, G. P., Jaswal, R., Kanwar, A. J., Radotra, B. D., Singh, I. P.
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<strong>Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations.</strong>
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Dermatology 196: 350-351, 1998.
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<li>
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Uttam, J., Hutton, E., Coulombe, P. A., Anton-Lamprecht, I., Yu, Q.-C., Gedde-Dahl, T., Jr., Fine, J.-D., Fuchs, E.
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<strong>The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.</strong>
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Wilson-Jones, E., Grice, K.
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<strong>Reticulate pigmented anomaly of the flexures (Dowling, Degos): a new genodermatosis. (Abstract)</strong>
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