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Entry
- #602540 - ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
- OMIM
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<span class="h4">#602540</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/602540"><strong>Clinical Synopsis</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS) OR (GJB2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=520&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>
<div><a href="https://www.diseaseinfosearch.org/x/8633" 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>
<div><a href="https://medlineplus.gov/genetics/condition/hystrix-like-ichthyosis-with-deafness" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602540[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477" 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>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/246e812e-65cd-42dd-ab94-884de58f7fc2/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 477<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
602540
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
HID SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/15?start=-3&limit=10&highlight=15">
13q12.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Hystrix-like ichthyosis with deafness
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602540"> 602540 </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">
GJB2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/121011"> 121011 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/602540" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/602540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/602540" 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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Deafness, sensorineural <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Absent eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000561</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=8fa6024a36924ba35bddf46d5da10be1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Absent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=8fa6024a36924ba35bddf46d5da10be1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Spiky hyperkeratosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148699</a>]</span><br /> -
Erythroderma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399992009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399992009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/200948000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">200948000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400005007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400005007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L26" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L26</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L53.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001019</a>]</span><br /> -
Punctate keratitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42513006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42513006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.14</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/370.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1562761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1562761</a>, <a href="https://bioportal.bioontology.org/search?q=C0259799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0259799</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011859" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011859</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011859" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011859</a>]</span><br /> -
Ichthyosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br /> -
Variable involvement of palms and soles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148700</a>]</span><br />
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- Absent-sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862855</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200102</a>]</span><br /> -
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
Scarring alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400088006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400088006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L66.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L66.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L66" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L66</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2936846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2936846</a>, <a href="https://bioportal.bioontology.org/search?q=C0086873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086873</a>]</span><br />
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<strong> NEOPLASIA </strong>
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- Squamous cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Allelic to KID syndrome (<a href="/entry/148210">148210</a>), DFNA3 (<a href="/entry/601544">601544</a>), DFNB1 (<a href="/entry/220290">220290</a>), Vohwinkel syndrome (<a href="/entry/124500">124500</a>), keratoderma, palmoplantar with deafness (<a href="/entry/148350">148350</a>)<br /> -
KID syndrome and HID syndrome are identical at the molecular level<br /> -
Onset in first year of life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the connexin 26 gene (GJB2, <a href="/entry/121011#0020">121011.0020</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that HID syndrome is caused by heterozygous mutation in the GJB2 gene (<a href="/entry/121011">121011</a>) on chromosome 13q12.</p><p>Mutation in the GJB2 can also cause autosomal dominant KID syndrome (<a href="/entry/148210">148210</a>).</p>
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<strong>Description</strong>
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<p>Hystrix-like ichthyosis with deafness (HID) syndrome is an autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. Erythroderma appears shortly after birth. After the first year of life, spiky and cobblestone-like hyperkeratosis develops, covering the entire skin surface. Palms and soles are only mildly affected. Scarring alopecia may be present (summary by <a href="#7" class="mim-tip-reference" title="van Geel, M., van Steensel, M. A. M., Kuster, W., Hennies, H. C., Happle, R., Steijlen, P. M., Konig, A. &lt;strong&gt;HID and KID syndromes are associated with the same connexin 26 mutation.&lt;/strong&gt; Brit. J. Derm. 146: 938-942, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12072059/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12072059&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.2002.04893.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12072059">Van Geel et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12072059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Schnyder, U. W., Gloor, M. &lt;strong&gt;Ichthyosis hystrix Typus Rheydt (Ichthyosis hystrix gravior mit praktischer Taubheit).&lt;/strong&gt; Z. Hautkr. 52: 763-766, 1977."None>Schnyder and Gloor (1977)</a> and <a href="#3" class="mim-tip-reference" title="Gulzow, J., Anton-Lamprecht, I. &lt;strong&gt;Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom.&lt;/strong&gt; Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/145534/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;145534&lt;/a&gt;]" pmid="145534">Gulzow and Anton-Lamprecht (1977)</a> described a 17-year-old male with ichthyosis hystrix and bilateral hearing loss. Thereafter, sporadic cases of both sexes were reported (<a href="#1" class="mim-tip-reference" title="Baden, H. P., Bronstein, B. R. &lt;strong&gt;Ichthyosiform dermatosis and deafness: report of a case and review of the literature.&lt;/strong&gt; Arch. Derm. 124: 102-106, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3276270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3276270&lt;/a&gt;]" pmid="3276270">Baden and Bronstein, 1988</a>; <a href="#2" class="mim-tip-reference" title="Badillet, C., Blanchet-Bardon, C., Cabral, O., Puissant, A. &lt;strong&gt;Etude mycologique de trois cas d&#x27;erythrodermie avec keratite et surdite (ichtyose de Rheydt).&lt;/strong&gt; Bull. Soc. Mycol. Med. (Paris) 11: 191-198, 1982."None>Badillet et al., 1982</a>). Because of characteristic electron microscopic features, the disease was considered a distinct entity and was initially named 'ichthyosis hystrix gravior, type Rheydt' after the city of origin of the patient, located near Dusseldorf, Germany. <a href="#6" class="mim-tip-reference" title="Traupe, H. &lt;strong&gt;The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy.&lt;/strong&gt; Berlin: Springer-Verlag 1989. Pp. 194-197."None>Traupe (1989)</a> suggested the designation hystrix-like ichthyosis with deafness, or HID syndrome. The disease became manifest shortly after birth with erythematous patches. At the age of 1 year, spiky and cobblestone-like hyperkeratotic masses involved the entire skin. The palms and soles were only mildly affected. Scarring alopecia also occurred. Histopathologic features resembled those of lamellar ichthyosis and were not diagnostic. Ultrastructural changes included excess formation of mucous-containing granules and reduction of tonofibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=145534+3276270" 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="#4" class="mim-tip-reference" title="Konig, A., Kuster, W., Berger, R., Happle, R. &lt;strong&gt;Autosomal dominant inheritance of HID syndrome (hystrix-like ichthyosis with deafness).&lt;/strong&gt; Europ. J. Derm. 7: 554-555, 1997."None>Konig et al. (1997)</a> reported the first instance of familial occurrence. The 3-month-old son of the patient reported in 1977 had neurosensory deafness and typical cutaneous involvement, including red hyperkeratotic papules on the face and disseminated induration of the entire skin with diffuse dark-yellow hyperkeratoses. An important differential diagnosis of HID syndrome is KID syndrome (keratitis, ichthyosis-like hyperkeratosis, and deafness), of which both autosomal dominant (<a href="/entry/148210">148210</a>) and autosomal recessive (<a href="/entry/242150">242150</a>) forms exist. KID syndrome does not represent a true form of ichthyosis, however, but rather a particular type of erythrokeratodermia and can be differentiated from the HID syndrome by a number of features. Although both conditions show neurosensory deafness and proneness to bacterial and mycotic skin infections, the skin changes in KID syndrome may be present at birth in the form of hyperkeratotic erythroderma that resolves spontaneously. Later on, hyperkeratotic plaques recur but they never involve the trunk. The palms and the soles are severely affected, which represents a feature different from the HID phenotype. Moreover, the electron microscopic features observed in the 2 syndromes are different.</p><p><a href="#7" class="mim-tip-reference" title="van Geel, M., van Steensel, M. A. M., Kuster, W., Hennies, H. C., Happle, R., Steijlen, P. M., Konig, A. &lt;strong&gt;HID and KID syndromes are associated with the same connexin 26 mutation.&lt;/strong&gt; Brit. J. Derm. 146: 938-942, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12072059/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12072059&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.2002.04893.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12072059">Van Geel et al. (2002)</a> provided photographs of the first reported patient with HID syndrome (<a href="#5" class="mim-tip-reference" title="Schnyder, U. W., Gloor, M. &lt;strong&gt;Ichthyosis hystrix Typus Rheydt (Ichthyosis hystrix gravior mit praktischer Taubheit).&lt;/strong&gt; Z. Hautkr. 52: 763-766, 1977."None>Schnyder and Gloor, 1977</a>; <a href="#3" class="mim-tip-reference" title="Gulzow, J., Anton-Lamprecht, I. &lt;strong&gt;Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom.&lt;/strong&gt; Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/145534/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;145534&lt;/a&gt;]" pmid="145534">Gulzow and Anton-Lamprecht, 1977</a>). Extensive spiky hyperkeratosis covered most of the skin of the face and neck with a slightly erythrodermic aspect. Cobblestone-like hyperkeratosis was present on the scalp. Hypotrichosis of eyebrows, eyelids, and scalp was likewise present. Erythroderma and impressive cobblestone-like hyperkeratosis around the knees changed abruptly into a spiky hyperkeratosis in some areas. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=145534+12072059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>Because of similarities between HID syndrome and KID syndrome, which results from mutations in the connexin-26 gene (GJB2), <a href="#7" class="mim-tip-reference" title="van Geel, M., van Steensel, M. A. M., Kuster, W., Hennies, H. C., Happle, R., Steijlen, P. M., Konig, A. &lt;strong&gt;HID and KID syndromes are associated with the same connexin 26 mutation.&lt;/strong&gt; Brit. J. Derm. 146: 938-942, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12072059/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12072059&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.2002.04893.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12072059">van Geel et al. (2002)</a> searched for mutations in the GJB2 gene in the first reported case of HID syndrome (<a href="#5" class="mim-tip-reference" title="Schnyder, U. W., Gloor, M. &lt;strong&gt;Ichthyosis hystrix Typus Rheydt (Ichthyosis hystrix gravior mit praktischer Taubheit).&lt;/strong&gt; Z. Hautkr. 52: 763-766, 1977."None>Schnyder and Gloor, 1977</a>; <a href="#3" class="mim-tip-reference" title="Gulzow, J., Anton-Lamprecht, I. &lt;strong&gt;Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom.&lt;/strong&gt; Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/145534/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;145534&lt;/a&gt;]" pmid="145534">Gulzow and Anton-Lamprecht, 1977</a>). They extracted DNA from paraffin-embedded tissue samples. Since the KID syndrome mutation, asp50 to asn (<a href="/entry/121011#0020">121011.0020</a>), abolished an AspI restriction site, they analyzed this site by PCR and restriction digestion and demonstrated that the HID patient was heterozygous for lack of the restriction site. Subsequently, they confirmed the presence of the mutation by direct sequencing and found no additional variations in the GJB2 gene. <a href="#7" class="mim-tip-reference" title="van Geel, M., van Steensel, M. A. M., Kuster, W., Hennies, H. C., Happle, R., Steijlen, P. M., Konig, A. &lt;strong&gt;HID and KID syndromes are associated with the same connexin 26 mutation.&lt;/strong&gt; Brit. J. Derm. 146: 938-942, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12072059/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12072059&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.2002.04893.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12072059">Van Geel et al. (2002)</a> concluded that KID syndrome and HID syndrome are identical at the molecular level and represent a single clinical entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=145534+12072059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Baden1988" class="mim-anchor"></a>
<div class="">
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Baden, H. P., Bronstein, B. R.
<strong>Ichthyosiform dermatosis and deafness: report of a case and review of the literature.</strong>
Arch. Derm. 124: 102-106, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3276270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3276270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3276270" 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="Badillet1982" class="mim-anchor"></a>
<div class="">
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Badillet, C., Blanchet-Bardon, C., Cabral, O., Puissant, A.
<strong>Etude mycologique de trois cas d'erythrodermie avec keratite et surdite (ichtyose de Rheydt).</strong>
Bull. Soc. Mycol. Med. (Paris) 11: 191-198, 1982.
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Gulzow1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gulzow, J., Anton-Lamprecht, I.
<strong>Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom.</strong>
Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/145534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">145534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=145534" 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="Konig1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Konig, A., Kuster, W., Berger, R., Happle, R.
<strong>Autosomal dominant inheritance of HID syndrome (hystrix-like ichthyosis with deafness).</strong>
Europ. J. Derm. 7: 554-555, 1997.
</p>
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<a id="Schnyder1977" class="mim-anchor"></a>
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Schnyder, U. W., Gloor, M.
<strong>Ichthyosis hystrix Typus Rheydt (Ichthyosis hystrix gravior mit praktischer Taubheit).</strong>
Z. Hautkr. 52: 763-766, 1977.
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Traupe1989" class="mim-anchor"></a>
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Traupe, H.
<strong>The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy.</strong>
Berlin: Springer-Verlag 1989. Pp. 194-197.
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<a id="van Geel2002" class="mim-anchor"></a>
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<p class="mim-text-font">
van Geel, M., van Steensel, M. A. M., Kuster, W., Hennies, H. C., Happle, R., Steijlen, P. M., Konig, A.
<strong>HID and KID syndromes are associated with the same connexin 26 mutation.</strong>
Brit. J. Derm. 146: 938-942, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12072059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12072059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12072059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2133.2002.04893.x" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 9/19/2002
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Victor A. McKusick : 4/21/1998
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carol : 01/04/2024<br>carol : 08/09/2022<br>carol : 01/16/2020<br>carol : 05/27/2016<br>carol : 3/26/2003<br>carol : 2/21/2003<br>mgross : 9/20/2002<br>carol : 9/19/2002<br>terry : 4/6/2000<br>dholmes : 5/12/1998<br>carol : 4/21/1998
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<strong>#</strong> 602540
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ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
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<em>Alternative titles; symbols</em>
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HID SYNDROME
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<strong>ORPHA:</strong> 477; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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13q12.11
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Hystrix-like ichthyosis with deafness
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602540
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Autosomal dominant
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3
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GJB2
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121011
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that HID syndrome is caused by heterozygous mutation in the GJB2 gene (121011) on chromosome 13q12.</p><p>Mutation in the GJB2 can also cause autosomal dominant KID syndrome (148210).</p>
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<strong>Description</strong>
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<p>Hystrix-like ichthyosis with deafness (HID) syndrome is an autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. Erythroderma appears shortly after birth. After the first year of life, spiky and cobblestone-like hyperkeratosis develops, covering the entire skin surface. Palms and soles are only mildly affected. Scarring alopecia may be present (summary by Van Geel et al., 2002). </p>
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<strong>Clinical Features</strong>
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<p>Schnyder and Gloor (1977) and Gulzow and Anton-Lamprecht (1977) described a 17-year-old male with ichthyosis hystrix and bilateral hearing loss. Thereafter, sporadic cases of both sexes were reported (Baden and Bronstein, 1988; Badillet et al., 1982). Because of characteristic electron microscopic features, the disease was considered a distinct entity and was initially named 'ichthyosis hystrix gravior, type Rheydt' after the city of origin of the patient, located near Dusseldorf, Germany. Traupe (1989) suggested the designation hystrix-like ichthyosis with deafness, or HID syndrome. The disease became manifest shortly after birth with erythematous patches. At the age of 1 year, spiky and cobblestone-like hyperkeratotic masses involved the entire skin. The palms and soles were only mildly affected. Scarring alopecia also occurred. Histopathologic features resembled those of lamellar ichthyosis and were not diagnostic. Ultrastructural changes included excess formation of mucous-containing granules and reduction of tonofibrils. </p><p>Konig et al. (1997) reported the first instance of familial occurrence. The 3-month-old son of the patient reported in 1977 had neurosensory deafness and typical cutaneous involvement, including red hyperkeratotic papules on the face and disseminated induration of the entire skin with diffuse dark-yellow hyperkeratoses. An important differential diagnosis of HID syndrome is KID syndrome (keratitis, ichthyosis-like hyperkeratosis, and deafness), of which both autosomal dominant (148210) and autosomal recessive (242150) forms exist. KID syndrome does not represent a true form of ichthyosis, however, but rather a particular type of erythrokeratodermia and can be differentiated from the HID syndrome by a number of features. Although both conditions show neurosensory deafness and proneness to bacterial and mycotic skin infections, the skin changes in KID syndrome may be present at birth in the form of hyperkeratotic erythroderma that resolves spontaneously. Later on, hyperkeratotic plaques recur but they never involve the trunk. The palms and the soles are severely affected, which represents a feature different from the HID phenotype. Moreover, the electron microscopic features observed in the 2 syndromes are different.</p><p>Van Geel et al. (2002) provided photographs of the first reported patient with HID syndrome (Schnyder and Gloor, 1977; Gulzow and Anton-Lamprecht, 1977). Extensive spiky hyperkeratosis covered most of the skin of the face and neck with a slightly erythrodermic aspect. Cobblestone-like hyperkeratosis was present on the scalp. Hypotrichosis of eyebrows, eyelids, and scalp was likewise present. Erythroderma and impressive cobblestone-like hyperkeratosis around the knees changed abruptly into a spiky hyperkeratosis in some areas. </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Because of similarities between HID syndrome and KID syndrome, which results from mutations in the connexin-26 gene (GJB2), van Geel et al. (2002) searched for mutations in the GJB2 gene in the first reported case of HID syndrome (Schnyder and Gloor, 1977; Gulzow and Anton-Lamprecht, 1977). They extracted DNA from paraffin-embedded tissue samples. Since the KID syndrome mutation, asp50 to asn (121011.0020), abolished an AspI restriction site, they analyzed this site by PCR and restriction digestion and demonstrated that the HID patient was heterozygous for lack of the restriction site. Subsequently, they confirmed the presence of the mutation by direct sequencing and found no additional variations in the GJB2 gene. Van Geel et al. (2002) concluded that KID syndrome and HID syndrome are identical at the molecular level and represent a single clinical entity. </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Baden, H. P., Bronstein, B. R.
<strong>Ichthyosiform dermatosis and deafness: report of a case and review of the literature.</strong>
Arch. Derm. 124: 102-106, 1988.
[PubMed: 3276270]
</p>
</li>
<li>
<p class="mim-text-font">
Badillet, C., Blanchet-Bardon, C., Cabral, O., Puissant, A.
<strong>Etude mycologique de trois cas d&#x27;erythrodermie avec keratite et surdite (ichtyose de Rheydt).</strong>
Bull. Soc. Mycol. Med. (Paris) 11: 191-198, 1982.
</p>
</li>
<li>
<p class="mim-text-font">
Gulzow, J., Anton-Lamprecht, I.
<strong>Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom.</strong>
Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977.
[PubMed: 145534]
</p>
</li>
<li>
<p class="mim-text-font">
Konig, A., Kuster, W., Berger, R., Happle, R.
<strong>Autosomal dominant inheritance of HID syndrome (hystrix-like ichthyosis with deafness).</strong>
Europ. J. Derm. 7: 554-555, 1997.
</p>
</li>
<li>
<p class="mim-text-font">
Schnyder, U. W., Gloor, M.
<strong>Ichthyosis hystrix Typus Rheydt (Ichthyosis hystrix gravior mit praktischer Taubheit).</strong>
Z. Hautkr. 52: 763-766, 1977.
</p>
</li>
<li>
<p class="mim-text-font">
Traupe, H.
<strong>The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy.</strong>
Berlin: Springer-Verlag 1989. Pp. 194-197.
</p>
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<p class="mim-text-font">
van Geel, M., van Steensel, M. A. M., Kuster, W., Hennies, H. C., Happle, R., Steijlen, P. M., Konig, A.
<strong>HID and KID syndromes are associated with the same connexin 26 mutation.</strong>
Brit. J. Derm. 146: 938-942, 2002.
[PubMed: 12072059]
[Full Text: https://doi.org/10.1046/j.1365-2133.2002.04893.x]
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