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<title>
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Entry
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- #184500 - STEATOCYSTOMA MULTIPLEX
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</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=(STEATOCYSTOMA MULTIPLEX) OR (KRT17)" 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=8656&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/6865" 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://medlineplus.gov/genetics/condition/steatocystoma-multiplex" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184500[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=841" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111556" 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/184500" 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:0111556" 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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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 109433009<br />
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<strong>ICD10CM:</strong> L72.2<br />
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<strong>ORPHA:</strong> 841<br />
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<strong>DO:</strong> 0111556<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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184500
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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STEATOCYSTOMA MULTIPLEX
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</span>
|
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
SEBACEOUS CYSTS, MULTIPLE
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<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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<span class="mim-font">
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<a href="/geneMap/17/551?start=-3&limit=10&highlight=551">
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17q21.2
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<span class="mim-font">
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Steatocystoma multiplex
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<span class="mim-font">
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<a href="/entry/184500"> 184500 </a>
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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 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 class="mim-font">
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KRT17
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<span class="mim-font">
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<a href="/entry/148069"> 148069 </a>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/184500" 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 type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/184500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/184500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="h5 mim-font">
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<em> Teeth </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- No natal teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866651</a>]</span><br />
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Steatocystoma multiplex <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109433009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109433009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L72.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L72.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0259771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0259771</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012035</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012035</a>]</span><br /> -
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Multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866652</a>]</span><br />
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</span>
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</div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in adolescence to early adulthood<br /> -
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Allelic to pachyonychia congenita Jackson-Lawler type (<a href="/entry/167210">167210</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the keratin 17 gene (KRT17, <a href="/entry/148069#0004">148069.0004</a>)<br />
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</span>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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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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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<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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<strong>TEXT</strong>
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</span>
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</span>
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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 steatocystoma multiplex is caused by heterozygous mutation in the keratin-17 gene (KRT17; <a href="/entry/148069">148069</a>) on chromosome 17q21.</p><p>Mutation in the KRT17 gene has also been found as the cause of pachyonychia congenita-2 (PC2; <a href="/entry/167210">167210</a>).</p><p>Also see steatocystoma multiplex with natal teeth (<a href="/entry/184510">184510</a>), which may be a separate disorder.</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>In typical cases the patient may exhibit 100 to 2,000 round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. <a href="#5" class="mim-tip-reference" title="Noojin, R. O., Reynolds, J. P. <strong>Familial steatocystoma multiplex. Twelve cases in three generations.</strong> Arch. Derm. Syph. 57: 1013-1018, 1948.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18098741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18098741</a>] [<a href="https://doi.org/10.1001/archderm.1948.01520190092012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18098741">Noojin and Reynolds (1948)</a> observed 12 cases in 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18098741" 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>Sebaceous cysts presenting mainly as wens of the scalp were reported by <a href="#8" class="mim-tip-reference" title="Stephens, F. E. <strong>Hereditary multiple sebaceous cysts.</strong> J. Hered. 50: 299-301, 1959."None>Stephens (1959)</a> in a large number of individuals in 5 generations in a dominant pedigree pattern.</p><p><a href="#1" class="mim-tip-reference" title="Bushkell, L. L., Gorlin, R. J. <strong>Leukonychia totalis, multiple sebaceous cysts, and renal calculi: a syndrome.</strong> Arch. Derm. 111: 899-901, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1147634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1147634</a>]" pmid="1147634">Bushkell and Gorlin (1975)</a> found leukonychia totalis (<a href="/entry/151600">151600</a>), multiple sebaceous cysts, and renal calculi in grandfather, father and son, and some of these features in 2 other relatives. Koilonychia (<a href="/entry/149300">149300</a>) was also found in 3 of the affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1147634" 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>Malignant degeneration of a cyst in a steatocystoma case was reported by <a href="#4" class="mim-tip-reference" title="Harper, P. S., Davis, J. K. <strong>Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case.</strong> Birth Defects Orig. Art. Ser. XII(8): 342 only, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173306</a>]" pmid="5173306">Harper and Davis (1971)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cuccia-Belvedere, M., Brazzelli, V., Martinetti, M., Berardesca, E., Dugoujon, J. M., De Paoli, F., Borroni, G., Rabbiosi, G. <strong>Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families.</strong> Clin. Genet. 36: 136-140, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766570</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03176.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2766570">Cuccia-Belvedere et al. (1989)</a> studied steatocystoma multiplex in 13 persons in 2 unrelated Italian families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2766570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> reported an affected mother and daughter, as well as an unrelated 3-generation family, diagnosed with steatocystoma multiplex with mutation in the KRT17 gene. On restudy of the 3-generation kindred, some but not all of the 8 patients were found to have mild nail changes compatible with those of pachyonychia congenita. Affected individuals showed a severe phenotype consisting of myriads of cysts in the groin, perineum, axillae, trunk, and face. Histologic examination of cysts from the proband showed sebocytes within an epithelial wall characterized by slight epidermolytic hyperkeratosis. Nail changes were completely absent in the male proband who had myriads of cysts; however, his sister had slight thickening of the thumb nails and another sister had thickened fingernails but normal toenails. There was no family history of natal teeth, but some members had mild focal nonepidermolytic palmoplantar keratoderma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I. <strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong> Brit. J. Derm. 139: 475-480, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9767294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9767294</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1998.02413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9767294">Covello et al. (1998)</a> described a Dutch Caucasian family in which a mother and 2 children had steatocystoma multiplex and mutation in the KRT17 gene. The 41-year-old mother presented at an outpatient clinic because of what she described as 'acne present from puberty.' The number of lesions had increased with age; in addition to the face, lesions were present on the abdomen, arms, and legs. Her 4-year-old daughter and 11-year-old son were developing similar skin problems, with multiple nodules of varying diameters found in the areas mentioned. None of the affected individuals showed any nail changes or any other skin, hair, or mucosal abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9767294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of steatocystoma multiplex in the families reported by <a href="#7" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Pamoukian, V. N., Westreich, M. <strong>Five generations with steatocystoma multiplex congenita: a treatment regimen.</strong> Plast. Reconst. Surg. 99: 1142-1146, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9091916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9091916</a>] [<a href="https://doi.org/10.1097/00006534-199704000-00036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9091916">Pamoukian and Westreich (1997)</a> described their experiences in the treatment of 7 members of a family of Jewish Turkish origin over a period of 17 years. Steatocystoma multiplex congenita, especially the cysts in exposed areas of the body, created serious self-image problems. Because of the number of cysts and their fragility, standard cyst excision techniques were impractical and difficult. They described a modified excision method that yielded good results. Their method consisted of making a stab incision into the cyst and manually evacuating its contents. Thereafter, a fine mosquito hemostat was inserted to grasp the cyst wall from within and strip out its lining. At one sitting, 50 to 150 cysts could be removed. Excisions were performed once or twice a year. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9091916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> described mutations in the KRT17 gene (<a href="/entry/148069#0004">148069.0004</a>, <a href="/entry/148069#0005">148069.0005</a>) in 2 families diagnosed with steatocystoma multiplex. On reevaluation, mild changes in the nails were found in some, but not all, members of these 2 families, compatible with pachyonychia congenita, and some members had mild focal nonepidermolytic palmoplantar keratoderma. There was no history in either family of natal teeth. <a href="#7" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> suggested that the disorder in these families was a variant of PC2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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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Bushkell, L. L., Gorlin, R. J.
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<strong>Leukonychia totalis, multiple sebaceous cysts, and renal calculi: a syndrome.</strong>
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Arch. Derm. 111: 899-901, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1147634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1147634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1147634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I.
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<strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong>
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Brit. J. Derm. 139: 475-480, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9767294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9767294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9767294" 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.1365-2133.1998.02413.x" target="_blank">Full Text</a>]
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Cuccia-Belvedere, M., Brazzelli, V., Martinetti, M., Berardesca, E., Dugoujon, J. M., De Paoli, F., Borroni, G., Rabbiosi, G.
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<strong>Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families.</strong>
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Clin. Genet. 36: 136-140, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2766570" 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.1399-0004.1989.tb03176.x" target="_blank">Full Text</a>]
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Harper, P. S., Davis, J. K.
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<strong>Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case.</strong>
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Birth Defects Orig. Art. Ser. XII(8): 342 only, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Noojin, R. O., Reynolds, J. P.
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<strong>Familial steatocystoma multiplex. Twelve cases in three generations.</strong>
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Arch. Derm. Syph. 57: 1013-1018, 1948.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18098741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18098741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18098741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archderm.1948.01520190092012" target="_blank">Full Text</a>]
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Pamoukian, V. N., Westreich, M.
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<strong>Five generations with steatocystoma multiplex congenita: a treatment regimen.</strong>
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Plast. Reconst. Surg. 99: 1142-1146, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9091916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9091916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9091916" 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/10.1097/00006534-199704000-00036" target="_blank">Full Text</a>]
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Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I.
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<strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong>
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J. Invest. Derm. 108: 220-223, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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/10.1111/1523-1747.ep12335315" target="_blank">Full Text</a>]
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<strong>Hereditary multiple sebaceous cysts.</strong>
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J. Hered. 50: 299-301, 1959.
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Marla J. F. O'Neill - updated : 06/21/2024
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<span class="mim-text-font">
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Victor A. McKusick - updated : 6/9/1997<br>Victor A. McKusick - updated : 3/25/1997
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 06/21/2024
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alopez : 01/10/2024<br>carol : 04/10/2023<br>carol : 11/16/2017<br>carol : 04/10/2014<br>carol : 6/3/2009<br>terry : 6/2/2009<br>terry : 6/2/2009<br>alopez : 7/2/1998<br>terry : 6/23/1997<br>alopez : 6/9/1997<br>alopez : 6/9/1997<br>alopez : 3/28/1997<br>alopez : 3/25/1997<br>terry : 3/18/1997<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 9/1/1989<br>root : 2/28/1989
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<strong>#</strong> 184500
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STEATOCYSTOMA MULTIPLEX
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<em>Alternative titles; symbols</em>
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SEBACEOUS CYSTS, MULTIPLE
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<strong>SNOMEDCT:</strong> 109433009;
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<strong>ICD10CM:</strong> L72.2;
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<strong>ORPHA:</strong> 841;
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<strong>DO:</strong> 0111556;
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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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<span class="mim-font">
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17q21.2
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Steatocystoma multiplex
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184500
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Autosomal dominant
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<span class="mim-font">
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3
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KRT17
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148069
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that steatocystoma multiplex is caused by heterozygous mutation in the keratin-17 gene (KRT17; 148069) on chromosome 17q21.</p><p>Mutation in the KRT17 gene has also been found as the cause of pachyonychia congenita-2 (PC2; 167210).</p><p>Also see steatocystoma multiplex with natal teeth (184510), which may be a separate disorder.</p>
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<strong>Clinical Features</strong>
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<p>In typical cases the patient may exhibit 100 to 2,000 round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. Noojin and Reynolds (1948) observed 12 cases in 3 generations. </p><p>Sebaceous cysts presenting mainly as wens of the scalp were reported by Stephens (1959) in a large number of individuals in 5 generations in a dominant pedigree pattern.</p><p>Bushkell and Gorlin (1975) found leukonychia totalis (151600), multiple sebaceous cysts, and renal calculi in grandfather, father and son, and some of these features in 2 other relatives. Koilonychia (149300) was also found in 3 of the affected persons. </p><p>Malignant degeneration of a cyst in a steatocystoma case was reported by Harper and Davis (1971). </p><p>Cuccia-Belvedere et al. (1989) studied steatocystoma multiplex in 13 persons in 2 unrelated Italian families. </p><p>Smith et al. (1997) reported an affected mother and daughter, as well as an unrelated 3-generation family, diagnosed with steatocystoma multiplex with mutation in the KRT17 gene. On restudy of the 3-generation kindred, some but not all of the 8 patients were found to have mild nail changes compatible with those of pachyonychia congenita. Affected individuals showed a severe phenotype consisting of myriads of cysts in the groin, perineum, axillae, trunk, and face. Histologic examination of cysts from the proband showed sebocytes within an epithelial wall characterized by slight epidermolytic hyperkeratosis. Nail changes were completely absent in the male proband who had myriads of cysts; however, his sister had slight thickening of the thumb nails and another sister had thickened fingernails but normal toenails. There was no family history of natal teeth, but some members had mild focal nonepidermolytic palmoplantar keratoderma. </p><p>Covello et al. (1998) described a Dutch Caucasian family in which a mother and 2 children had steatocystoma multiplex and mutation in the KRT17 gene. The 41-year-old mother presented at an outpatient clinic because of what she described as 'acne present from puberty.' The number of lesions had increased with age; in addition to the face, lesions were present on the abdomen, arms, and legs. Her 4-year-old daughter and 11-year-old son were developing similar skin problems, with multiple nodules of varying diameters found in the areas mentioned. None of the affected individuals showed any nail changes or any other skin, hair, or mucosal abnormalities. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of steatocystoma multiplex in the families reported by Smith et al. (1997) was consistent with autosomal dominant inheritance. </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 Management</strong>
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<span class="mim-text-font">
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<p>Pamoukian and Westreich (1997) described their experiences in the treatment of 7 members of a family of Jewish Turkish origin over a period of 17 years. Steatocystoma multiplex congenita, especially the cysts in exposed areas of the body, created serious self-image problems. Because of the number of cysts and their fragility, standard cyst excision techniques were impractical and difficult. They described a modified excision method that yielded good results. Their method consisted of making a stab incision into the cyst and manually evacuating its contents. Thereafter, a fine mosquito hemostat was inserted to grasp the cyst wall from within and strip out its lining. At one sitting, 50 to 150 cysts could be removed. Excisions were performed once or twice a year. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Smith et al. (1997) described mutations in the KRT17 gene (148069.0004, 148069.0005) in 2 families diagnosed with steatocystoma multiplex. On reevaluation, mild changes in the nails were found in some, but not all, members of these 2 families, compatible with pachyonychia congenita, and some members had mild focal nonepidermolytic palmoplantar keratoderma. There was no history in either family of natal teeth. Smith et al. (1997) suggested that the disorder in these families was a variant of PC2. </p>
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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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<ol>
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<li>
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<p class="mim-text-font">
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Bushkell, L. L., Gorlin, R. J.
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<strong>Leukonychia totalis, multiple sebaceous cysts, and renal calculi: a syndrome.</strong>
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Arch. Derm. 111: 899-901, 1975.
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[PubMed: 1147634]
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<li>
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<p class="mim-text-font">
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Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I.
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<strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong>
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Brit. J. Derm. 139: 475-480, 1998.
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[PubMed: 9767294]
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[Full Text: https://doi.org/10.1046/j.1365-2133.1998.02413.x]
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<li>
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<p class="mim-text-font">
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Cuccia-Belvedere, M., Brazzelli, V., Martinetti, M., Berardesca, E., Dugoujon, J. M., De Paoli, F., Borroni, G., Rabbiosi, G.
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<strong>Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families.</strong>
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Clin. Genet. 36: 136-140, 1989.
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[PubMed: 2766570]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03176.x]
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<li>
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<p class="mim-text-font">
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Harper, P. S., Davis, J. K.
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<strong>Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case.</strong>
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Birth Defects Orig. Art. Ser. XII(8): 342 only, 1971.
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[PubMed: 5173306]
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<li>
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<p class="mim-text-font">
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Noojin, R. O., Reynolds, J. P.
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<strong>Familial steatocystoma multiplex. Twelve cases in three generations.</strong>
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Arch. Derm. Syph. 57: 1013-1018, 1948.
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[PubMed: 18098741]
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[Full Text: https://doi.org/10.1001/archderm.1948.01520190092012]
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</li>
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<li>
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<p class="mim-text-font">
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Pamoukian, V. N., Westreich, M.
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<strong>Five generations with steatocystoma multiplex congenita: a treatment regimen.</strong>
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Plast. Reconst. Surg. 99: 1142-1146, 1997.
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[PubMed: 9091916]
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[Full Text: https://doi.org/10.1097/00006534-199704000-00036]
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</li>
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<li>
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<p class="mim-text-font">
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Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I.
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<strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong>
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J. Invest. Derm. 108: 220-223, 1997.
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[PubMed: 9008238]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12335315]
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<li>
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<p class="mim-text-font">
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Stephens, F. E.
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<strong>Hereditary multiple sebaceous cysts.</strong>
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J. Hered. 50: 299-301, 1959.
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</ol>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/21/2024<br>Victor A. McKusick - updated : 6/9/1997<br>Victor A. McKusick - updated : 3/25/1997
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/21/2024<br>alopez : 01/10/2024<br>carol : 04/10/2023<br>carol : 11/16/2017<br>carol : 04/10/2014<br>carol : 6/3/2009<br>terry : 6/2/2009<br>terry : 6/2/2009<br>alopez : 7/2/1998<br>terry : 6/23/1997<br>alopez : 6/9/1997<br>alopez : 6/9/1997<br>alopez : 3/28/1997<br>alopez : 3/25/1997<br>terry : 3/18/1997<br>mimadm : 5/10/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 9/1/1989<br>root : 2/28/1989
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