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Entry
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- #176920 - PROTEUS SYNDROME
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- OMIM
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<p>
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<span class="h4">#176920</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/176920"><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="#diagnosis">Diagnosis</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="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PROTEUS SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=565&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.ncbi.nlm.nih.gov/books/NBK99495/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6005" 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/proteus-syndrome" 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=176920[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=744" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/45dd8f72-956c-47c1-953c-ebb030b276d0/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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:13482" 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/176920" 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:13482" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:176920" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 23150001<br />
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<strong>ORPHA:</strong> 744<br />
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<strong>DO:</strong> 13482<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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176920
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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|
PROTEUS SYNDROME
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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>
|
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<span class="mim-font">
|
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GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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ELATTOPROTEUS SYNDROME, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
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<th>
|
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Location
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</th>
|
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<th>
|
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Phenotype
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</th>
|
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
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Inheritance
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</th>
|
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/14/593?start=-3&limit=10&highlight=593">
|
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14q32.33
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Proteus syndrome, somatic
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/176920"> 176920 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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AKT1
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/164730"> 164730 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/176920" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/176920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/176920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
|
|
<div>
|
|
<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">
|
|
|
|
- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemihypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205838004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332890</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001528</a>]</span><br /> -
|
|
Generalized, unilateral or localized disproportionate overgrowth of any tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011840</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60132005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60132005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012837" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012837</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hyperostoses of calvaria, facial bones, and mandible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867615</a>]</span><br /> -
|
|
Dolichocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72239002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72239002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dolichocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><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">
|
|
|
|
- Epibulbar dermoids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867616</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001140" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001140</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001140" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001140</a>]</span><br /> -
|
|
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
|
|
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
|
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</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Wide or anteverted nostrils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011848</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Open mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262016004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262016004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240379</a>, <a href="https://bioportal.bioontology.org/search?q=C4285242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4285242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span><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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Capillary malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234118009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234118009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0340803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025104</a>]</span><br /> -
|
|
Venous malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/297222002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">297222002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234124003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234124003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2937220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2937220</a>, <a href="https://bioportal.bioontology.org/search?q=C0265950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265950</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012721</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012721</a>]</span><br /> -
|
|
Lymphatic malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234095009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234095009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0398368&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0398368</a>]</span><br /> -
|
|
Deep vein thrombosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404223003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404223003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128053003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128053003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I82.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I82.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149871</a>, <a href="https://bioportal.bioontology.org/search?q=C0340708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002625</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002625</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lung cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275504005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032445</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><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> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Megaspondylodysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150371</a>]</span><br /> -
|
|
Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br /> -
|
|
Spinal stenosis from angular kyphoscoliosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867612</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Overgrown long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011839</a>]</span><br /> -
|
|
Thin cortices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833325</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002753</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002753</a>]</span><br />
|
|
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|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebriform connective tissue nevus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000009</a>]</span><br /> -
|
|
Lymphangioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400178008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400178008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253057002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253057002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254836000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254836000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D18.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D18.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/228.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">228.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024221</a>, <a href="https://bioportal.bioontology.org/search?q=C5575909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5575909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100764</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100764</a>]</span><br /> -
|
|
Lipoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/134328007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">134328007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93163002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93163002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D17.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D17.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/214.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">214.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/214" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">214</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3489413&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489413</a>, <a href="https://bioportal.bioontology.org/search?q=C0023798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001012</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012032" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012032</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012032" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012032</a>]</span><br /> -
|
|
Lipohypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011842</a>]</span><br /> -
|
|
Epidermal nevi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239107007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239107007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25201003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25201003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0334082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0334082</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010816</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010816</a>]</span><br /> -
|
|
Hypertrophy of skin of soles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007403</a>]</span><br /> -
|
|
Depigmentation/hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007483</a>]</span><br /> -
|
|
Hemangiomata, especially thorax and upper abdomen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867619</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Highly collagenized connective tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011843</a>]</span><br /> -
|
|
Acanthosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23620008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23620008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221270</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025092</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025092</a>]</span><br /> -
|
|
Hyperkeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254666005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254666005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399955009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399955009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26996000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0870082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0870082</a>, <a href="https://bioportal.bioontology.org/search?q=C0022593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span><br /> -
|
|
Dermal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011844</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Brain malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57148006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57148006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266449</a>]</span><br /> -
|
|
Spinal cord compression by tumor infiltration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867611</a>]</span><br /> -
|
|
Mental retardation, moderate (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61152003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61152003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F71</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/318.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">318.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002342</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002342</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Ovarian cystadenoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/198297004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">198297004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0346169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000672" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000672</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000672" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000672</a>]</span><br /> -
|
|
Parotid monomorphic adenoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1335362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1335362</a>]</span><br />
|
|
|
|
</span>
|
|
</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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy <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 /> -
|
|
Sporadic occurrence<br /> -
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br />
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- Caused by somatic mutation in the AKT serine/threonine kinase 1 gene (AKT1, <a href="/entry/164730#0001">164730.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Proteus syndrome is associated with mosaicism for a somatic activating mutation in the AKT1 gene (<a href="/entry/164730">164730</a>) on chromosome 14q32.3.</p>
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<p>Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Specific features include cerebriform connective tissue nevus, thin limbs, lipomas, and lung cysts. Some patients may have intellectual disability with dysmorphic facies. Deep venous thrombosis is common and constitutes a significant risk factor. Many features of Proteus syndrome overlap with other overgrowth syndromes (<a href="#48" class="mim-tip-reference" title="Turner, J. T., Cohen, M. M., Jr., Biesecker, L. G. <strong>Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.</strong> Am. J. Med. Genet. 130A: 111-122, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372514</a>] [<a href="https://doi.org/10.1002/ajmg.a.30327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372514">Turner et al., 2004</a>; review by <a href="#18" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Proteus syndrome review: molecular, clinical, and pathologic features.</strong> Clin. Genet. 85: 111-119, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23992099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23992099</a>] [<a href="https://doi.org/10.1111/cge.12266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23992099">Cohen, 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23992099+15372514" 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="#18" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Proteus syndrome review: molecular, clinical, and pathologic features.</strong> Clin. Genet. 85: 111-119, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23992099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23992099</a>] [<a href="https://doi.org/10.1111/cge.12266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23992099">Cohen (2014)</a> provided a detailed review of the clinical features, diagnosis, and management issues of Proteus syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23992099" 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>Some authors (Zhou et al. (<a href="#53" class="mim-tip-reference" title="Zhou, X.-P., Marsh, D. J., Hampel, H., Mulliken, J. B., Gimm, O., Eng, C. <strong>Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.</strong> Hum. Molec. Genet. 9: 765-768, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749983</a>] [<a href="https://doi.org/10.1093/hmg/9.5.765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10749983">2000</a>, <a href="#52" class="mim-tip-reference" title="Zhou, X., Hampel, H., Thiele, H., Gorlin, R. J., Hennekam, R. C., Parisi, M., Winter, R. M., Eng, C. <strong>Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.</strong> Lancet 358: 210-211, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11476841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11476841</a>] [<a href="https://doi.org/10.1016/s0140-6736(01)05412-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11476841">2001</a>); <a href="#45" class="mim-tip-reference" title="Smith, J. M., Kirk, E. P. E., Theodosopoulos, G., Marshall, G. M., Walker, J., Rogers, M., Field, M., Brereton, J. J., Marsh, D. J. <strong>Germline mutation of the tumour suppressor PTEN in Proteus syndrome. (Letter)</strong> J. Med. Genet. 39: 937-940, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471211</a>] [<a href="https://doi.org/10.1136/jmg.39.12.937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12471211">Smith et al., 2002</a>) have reported a 'Proteus-like' syndrome associated with germline and tissue-specific somatic mutations in the PTEN gene (<a href="/entry/601728">601728</a>), which is mutated in Cowden syndrome (CWS1); see <a href="/entry/158350">158350</a> for a discussion of these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10749983+11476841+12471211" 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="#51" class="mim-tip-reference" title="Wiedemann, H.-R., Burgio, G. R., Aldenhoff, P., Kunze, J., Kaufmann, H. J., Schirg, E. <strong>The Proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.</strong> Europ. J. Pediat. 140: 5-12, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873112</a>] [<a href="https://doi.org/10.1007/BF00661895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873112">Wiedemann et al. (1983)</a> described a 'new' syndrome in 4 unrelated boys with the combination of partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies, and possible accelerated growth and visceral affections. The authors considered the disorder to fall into the category of congenital hamartomatous disorders and to be 'undoubtedly genetically determined,' perhaps as an autosomal dominant disorder. They named the syndrome for the Greek god Proteus, 'the polymorphous,' who could change his shape at will to avoid capture. <a href="#51" class="mim-tip-reference" title="Wiedemann, H.-R., Burgio, G. R., Aldenhoff, P., Kunze, J., Kaufmann, H. J., Schirg, E. <strong>The Proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.</strong> Europ. J. Pediat. 140: 5-12, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873112</a>] [<a href="https://doi.org/10.1007/BF00661895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873112">Wiedemann et al. (1983)</a> suggested that the patient reported by <a href="#46" class="mim-tip-reference" title="Temtamy, S. A., Rogers, J. G. <strong>Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature.</strong> J. Pediat. 89: 924-927, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/993918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">993918</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)80597-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="993918">Temtamy and Rogers (1976)</a> and probably also the patient of <a href="#25" class="mim-tip-reference" title="Graetz, I. <strong>Ueber einen Fall von sogenannter 'totaler halbseitiger Korperhypertrophie'.</strong> Z. Kinderheilk. 45: 381-403, 1928."None>Graetz (1928)</a> may have had this disorder. The disorder might be confused with the Klippel-Trenaunay-Weber syndrome (<a href="/entry/149000">149000</a>) and with Ollier disease (<a href="/entry/166000">166000</a>) and Maffucci syndrome (<a href="/entry/614569">614569</a>). <a href="#9" class="mim-tip-reference" title="Burgio, G. R., Wiedemann, H. R. <strong>Further and new details on the Proteus syndrome.</strong> Europ. J. Pediat. 143: 71-73, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6510436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6510436</a>] [<a href="https://doi.org/10.1007/BF00442754" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6510436">Burgio and Wiedemann (1984)</a> found that the skin changes are papillomatous epidermal nevi. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6510436+6873112+993918" 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="#19" class="mim-tip-reference" title="Costa, T., Fitch, N., Azouz, E. M. <strong>Proteus syndrome: report of two cases with pelvic lipomatosis.</strong> Pediatrics 76: 984-989, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4069870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4069870</a>]" pmid="4069870">Costa et al. (1985)</a> reported 2 cases; both had abdominal and pelvic lipomatosis. One, a 7-year-old boy, was noted at age 3 to have a conjunctival dermoid. Laparotomy at age 6 for acute abdominal pain showed right iliac fossa lipomatosis and twisted necrotic mesenteric fat as the presumed cause of pain. Some similarities to the Bannayan-Zonana syndrome (see <a href="/entry/158350">158350</a>) and linear sebaceous nevus syndrome (<a href="/entry/163200">163200</a>) were noted. <a href="#19" class="mim-tip-reference" title="Costa, T., Fitch, N., Azouz, E. M. <strong>Proteus syndrome: report of two cases with pelvic lipomatosis.</strong> Pediatrics 76: 984-989, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4069870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4069870</a>]" pmid="4069870">Costa et al. (1985)</a> noted that mean paternal age at the time of birth of 10 of the patients was 30 (range 23 to 40), which is probably not significantly elevated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4069870" 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="#26" class="mim-tip-reference" title="Happle, R. <strong>Cutaneous manifestation of lethal genes.</strong> Hum. Genet. 72: 280 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3957353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3957353</a>] [<a href="https://doi.org/10.1007/BF00291899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3957353">Happle (1986)</a> pointed out that the lesions follow the lines of Blaschko and suggested that the cause is a dominant lethal gene surviving by mosaicism. He suggested this mechanism also for Schimmelpenning-Feuerstein-Mims syndrome (<a href="/entry/163200">163200</a>) and the McCune-Albright syndrome (<a href="/entry/174800">174800</a>). (The hypothesis has been proved in the case of the latter condition.) Rescue of a lethal genotype by chimerism with normal embryos (<a href="#3" class="mim-tip-reference" title="Bennett, D. <strong>Rescue of a lethal T/t locus genotype by chimaerism with normal embryos.</strong> Nature 272: 539 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/692659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">692659</a>] [<a href="https://doi.org/10.1038/272539a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="692659">Bennett, 1978</a>) is an experimental model of this mode of inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=692659+3957353" 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="#49" class="mim-tip-reference" title="Viljoen, D. L., Nelson, M. M., de Jong, G., Beighton, P. <strong>Proteus syndrome in Southern Africa: natural history and clinical manifestations in six individuals.</strong> Am. J. Med. Genet. 27: 87-97, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605209</a>] [<a href="https://doi.org/10.1002/ajmg.1320270110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605209">Viljoen et al. (1987)</a>, <a href="#11" class="mim-tip-reference" title="Clark, R. D., Donnai, D., Rogers, J., Cooper, J., Baraitser, M. <strong>Proteus syndrome: an expanded phenotype.</strong> Am. J. Med. Genet. 27: 99-117, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605210</a>] [<a href="https://doi.org/10.1002/ajmg.1320270111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605210">Clark et al. (1987)</a> and <a href="#38" class="mim-tip-reference" title="Malamitsi-Puchner, A., Kitsiou, S., Bartsocas, C. S. <strong>Severe Proteus syndrome in an 18-month-old boy.</strong> Am. J. Med. Genet. 27: 119-125, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605190</a>] [<a href="https://doi.org/10.1002/ajmg.1320270112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605190">Malamitsi-Puchner et al. (1987)</a> reported 6 cases, 11 cases, and 1 case, respectively. All emphasized lipomatosis as a feature. <a href="#37" class="mim-tip-reference" title="Malamitsi-Puchner, A., Dimitriadis, D., Bartsocas, C., Wiedemann, H.-R. <strong>Proteus syndrome: course of a severe case.</strong> Am. J. Med. Genet. 35: 283-285, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309770</a>] [<a href="https://doi.org/10.1002/ajmg.1320350228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2309770">Malamitsi-Puchner et al. (1990)</a> provided follow-up on the severely affected child originally reported by <a href="#38" class="mim-tip-reference" title="Malamitsi-Puchner, A., Kitsiou, S., Bartsocas, C. S. <strong>Severe Proteus syndrome in an 18-month-old boy.</strong> Am. J. Med. Genet. 27: 119-125, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605190</a>] [<a href="https://doi.org/10.1002/ajmg.1320270112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605190">Malamitsi-Puchner et al. (1987)</a>. They found that striking overgrowth of tissues occurred after surgical operations. Furthermore, the patient, a 4.5-year-old child, developed testicular malignancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2309770+3605190+3605210+3605209" 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="#49" class="mim-tip-reference" title="Viljoen, D. L., Nelson, M. M., de Jong, G., Beighton, P. <strong>Proteus syndrome in Southern Africa: natural history and clinical manifestations in six individuals.</strong> Am. J. Med. Genet. 27: 87-97, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605209</a>] [<a href="https://doi.org/10.1002/ajmg.1320270110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605209">Viljoen et al. (1987)</a> mentioned that surgical removal of lymphatic, fatty, or hemangiomatous elements is difficult and results in unsightly scars and keloids. <a href="#50" class="mim-tip-reference" title="Viljoen, D. L., Saxe, N., Temple-Camp, C. <strong>Cutaneous manifestations of the Proteus syndrome.</strong> Pediat. Derm. 5: 14-21, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3380758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3380758</a>] [<a href="https://doi.org/10.1111/j.1525-1470.1988.tb00878.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3380758">Viljoen et al. (1988)</a> described the skin manifestations of the Proteus syndrome in 6 patients. All had marked hypertrophy of the skin of the soles, which the authors believed to be a unique feature of this syndrome. Large epidermal nevi and linear macular lesions with areas of depigmentation and hyperpigmentation were seen in 3 patients. Light microscopy of affected skin from the soles demonstrated elongation of the cytoplasm of basal cells. <a href="#41" class="mim-tip-reference" title="Samlaska, C. P., Levin, S. W., James, W. D., Benson, P. M., Walker, J. C., Perlik, P. C. <strong>Proteus syndrome.</strong> Arch. Derm. 125: 1109-1114, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2667470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2667470</a>]" pmid="2667470">Samlaska et al. (1989)</a> reported a typical case and reviewed 34 reported cases, all sporadic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3380758+2667470+3605209" 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="Beluffi, G., DiGiulio, G., Fiori, P. <strong>Pelvic lipomatosis in the Proteus syndrome: a further diagnostic sign. (Letter)</strong> Europ. J. Pediat. 149: 866 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2226574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2226574</a>] [<a href="https://doi.org/10.1007/BF02072076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2226574">Beluffi et al. (1990)</a> reported a case with pelvic lipomatosis and demonstrated the use of CT scan for revealing pelvic lipomatosis. <a href="#30" class="mim-tip-reference" title="Hotamisligil, G. S., Ertogan, F. <strong>The Proteus syndrome: association with nephrogenic diabetes insipidus.</strong> Clin. Genet. 38: 139-144, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2208765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2208765</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03562.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2208765">Hotamisligil and Ertogan (1990)</a> described the case of a 9-month-old girl who, in addition to other features, had soft tissue masses in the paravertebral and gluteal areas with aggressive involvement of the spinal canal and a hyperpigmented epidermal nevus with hyperkeratosis on the left half of the body. There was macrodactyly of both feet and the left hand with syndactyly of the third and fourth left fingers. Nephrogenic diabetes insipidus was described in the Proteus syndrome for the first time. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2208765+2226574" 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>Although Proteus syndrome is considered a sporadic congenital disorder, some reports have suggested familial transmission. <a href="#22" class="mim-tip-reference" title="Goodship, J., Redfearn, A., Milligan, D., Gardner-Medwin, D., Burn, J. <strong>Transmission of Proteus syndrome from father to son?</strong> J. Med. Genet. 28: 781-785, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770536</a>] [<a href="https://doi.org/10.1136/jmg.28.11.781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1770536">Goodship et al. (1991)</a> presented a possible case of father-son transmission of Proteus syndrome. The son had cranial hemihypertrophy, a lymphangioma, a lipoma, and epidermal nevi. The father had had a large lymphangioma resected from the right side of his face as a child. The possibility that the father was mosaic was raised. <a href="#31" class="mim-tip-reference" title="Kruger, G., Pelz, L., Wiedemann, H.-R. <strong>Transmission of Proteus syndrome from mother to son? (Letter)</strong> Am. J. Med. Genet. 45: 117-118, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8418646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8418646</a>] [<a href="https://doi.org/10.1002/ajmg.1320450132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8418646">Kruger et al. (1993)</a> observed mild Proteus syndrome in a boy whose mother had very mild manifestations. The mentally normal son had mild hypertrophy of the left side of the upper lip and cheek with impaired mimic expression in this region, hypertrophy of the left arm, partial gigantism of the left middle finger, and a large subcutaneous swelling in the upper left abdomen thought clinically and sonographically to be a lipoma. The mother had facial asymmetry with hypertrophy of the right lower cheek and impaired mimic expression in that region. Both the mother and the son had 'distinct venous marking' over the upper thorax. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1770536+8418646" 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="#42" class="mim-tip-reference" title="Skovby, F., Graham, J. M., Jr., Sonne-Holm, S., Cohen, M. M., Jr. <strong>Compromise of the spinal canal in Proteus syndrome.</strong> Am. J. Med. Genet. 47: 656-659, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266993</a>] [<a href="https://doi.org/10.1002/ajmg.1320470516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266993">Skovby et al. (1993)</a> reported 2 patients who illustrated the 2 ways in which spinal compromise may develop in Proteus syndrome: vertebral anomalies or tumor infiltration. In one patient, spinal stenosis resulted from an angular kyphoscoliosis; in the other, cord compression resulted from infiltration of a paraspinal, intrathoracic angiolipoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266993" 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="#16" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Proteus syndrome: clinical evidence for somatic mosaicism and selective review.</strong> Am. J. Med. Genet. 47: 645-652, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266991</a>] [<a href="https://doi.org/10.1002/ajmg.1320470514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266991">Cohen (1993)</a> reported 2 unusual cases that supported the concept of somatic mosaicism. In 1 patient, a huge connective tissue nevus covered the chest and abdomen, and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No enlargement of the limbs or digits occurred, and the plantar surfaces of the feet were normal. <a href="#16" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Proteus syndrome: clinical evidence for somatic mosaicism and selective review.</strong> Am. J. Med. Genet. 47: 645-652, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266991</a>] [<a href="https://doi.org/10.1002/ajmg.1320470514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266991">Cohen (1993)</a> also reviewed selective aspects of Proteus syndrome, including uncommon neoplasms, pulmonary and renal abnormalities, brain malformations, and types of abnormal growth in the craniofacial skeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266991" 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="#44" class="mim-tip-reference" title="Smeets, E., Fryns, J.-P., Cohen, M. M., Jr. <strong>Regional Proteus syndrome and somatic mosaicism.</strong> Am. J. Med. Genet. 51: 29-31, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8030665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8030665</a>] [<a href="https://doi.org/10.1002/ajmg.1320510107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8030665">Smeets et al. (1994)</a> reported a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. The observations were interpreted as supporting the hypothesis of somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8030665" 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="#23" class="mim-tip-reference" title="Gordon, P. L., Wilroy, R. S., Lasater, O. E., Cohen, M. M., Jr. <strong>Neoplasms in Proteus syndrome.</strong> Am. J. Med. Genet. 57: 74-78, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645604</a>] [<a href="https://doi.org/10.1002/ajmg.1320570117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7645604">Gordon et al. (1995)</a> observed 2 patients with Proteus syndrome who developed neoplasms. Patient 1 had a probable mesothelioma, although papillary carcinoma of the thyroid could not be completely ruled out; the patient, who died suddenly while sleeping at age 5 years, at autopsy had a papillary neoplasm, most likely of mesothelial origin, involving the inferior surface of the diaphragm and infiltrating into the musculature, within the omentum, in the pelvic area, within the scrotum, and within some of the mesenteric lymph nodes. Patient 2 had bilateral ovarian serous cystadenomas with nuclear atypia identified at 6 years and 3 months of age. A right ovarian oophorectomy was performed; invasion of the right fallopian tube was noted. A tabulation of uncommon neoplasms in Proteus syndrome was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645604" 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="#32" class="mim-tip-reference" title="Lacombe, D., Battin, J. <strong>Isolated macrodactyly and Proteus syndrome. (Letter)</strong> Clin. Dysmorph. 5: 255-257, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818455</a>]" pmid="8818455">Lacombe and Battin (1996)</a> described 2 unrelated children diagnosed at birth as having isolated macrodactyly (<a href="/entry/155500">155500</a>). Follow-up examination showed development of hemihypertrophy in both cases. Three dorsal angiomas were found in 1 child, a female, at the age of 4 years. The symptoms of both of these patients better fit the diagnostic criteria of Proteus syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8818455" 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="#10" class="mim-tip-reference" title="Ceelen, W., De Waele, J., Kunnen, M., de Hemptinne, B. <strong>Non-operative management of a splenic laceration in a patient with the Proteus syndrome.</strong> J. Accid. Emerg. Med. 14: 111-113, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9132186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9132186</a>] [<a href="https://doi.org/10.1136/emj.14.2.111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9132186">Ceelen et al. (1997)</a> described a man with Proteus syndrome who sustained a rupture of an enlarged spleen following a fall from a horse. <a href="#6" class="mim-tip-reference" title="Biesecker, L. G., Peters, K. F., Darling, T. N., Choyke, P., Hill, S., Schimke, N., Cunningham, M., Meltzer, P., Cohen, M. M., Jr. <strong>Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.</strong> Am. J. Med. Genet. 79: 311-318, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781913</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<311::aid-ajmg14>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781913">Biesecker et al. (1998)</a> described their experience with 18 patients with a referring diagnosis of Proteus syndrome. Splenic hyperplasia was found to be a manifestation. The spleen was enlarged in 2 of the 18 cases, and another patient with Proteus syndrome and asymptomatic splenomegaly was known to them. Enlargement of the thymus was also observed. Proteus syndrome was frequently confused with hemihyperplasia. <a href="#6" class="mim-tip-reference" title="Biesecker, L. G., Peters, K. F., Darling, T. N., Choyke, P., Hill, S., Schimke, N., Cunningham, M., Meltzer, P., Cohen, M. M., Jr. <strong>Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.</strong> Am. J. Med. Genet. 79: 311-318, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781913</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<311::aid-ajmg14>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781913">Biesecker et al. (1998)</a> described a distinct subtype of hemihyperplasia defined by static or mildly progressive hemihyperplasia and multiple lipomata. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9132186+9781913" 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="#20" class="mim-tip-reference" title="De Becker, I., Gajda, D. J., Gilbert-Barness, E., Cohen, M. M., Jr. <strong>Ocular manifestations in Proteus syndrome.</strong> Am. J. Med. Genet. 92: 350-352, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861666</a>] [<a href="https://doi.org/10.1002/1096-8628(20000619)92:5<350::aid-ajmg11>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861666">De Becker et al. (2000)</a> described ocular manifestations in a Proteus syndrome patient and reviewed ocular findings of published cases. <a href="#29" class="mim-tip-reference" title="Hodge, D., Misbah, S. A., Mueller, R. F., Glass, E. J., Chetcuti, P. A. J. <strong>Proteus syndrome and immunodeficiency.</strong> Arch. Dis. Child. 82: 234-235, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10685928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10685928</a>] [<a href="https://doi.org/10.1136/adc.82.3.234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10685928">Hodge et al. (2000)</a> described a 10-year-old boy with Proteus syndrome who presented with a pericardial effusion and was found to have both hypogammaglobulinemia, with a specific deficiency in IgG and IgA accompanied by low levels of specific antibodies to pneumococcal and hemophilus type B polysaccharides, and global lymphopenia. No cause was found for this immune deficiency, leading the authors to suggest that it may represent a hitherto unrecognized feature of Proteus syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10861666+10685928" 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="#21" class="mim-tip-reference" title="Gilbert-Barness, E., Cohen, M. M., Jr., Opitz, J. M. <strong>Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.</strong> Am. J. Med. Genet. 93: 234-240, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10925389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10925389</a>] [<a href="https://doi.org/10.1002/1096-8628(20000731)93:3<234::aid-ajmg15>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10925389">Gilbert-Barness et al. (2000)</a> reported an unusual patient with Proteus syndrome in whom manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10925389" 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="#43" class="mim-tip-reference" title="Slavotinek, A. M., Vacha, S. J., Peters, K. F., Biesecker, L. G. <strong>Sudden death caused by pulmonary thromboembolism in Proteus syndrome.</strong> Clin. Genet. 58: 386-389, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140839</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.580509.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140839">Slavotinek et al. (2000)</a> reported 3 patients with Proteus syndrome who died suddenly from pulmonary embolism. The first patient, who was diagnosed with Proteus syndrome at the age of 12 years, had varicose veins, portal vein thrombosis, right iliac vein occlusion, and recurrent pulmonary embolism. At age 25 years he died from pulmonary embolism. The second patient was a 9-year-old male who collapsed and died at home. Autopsy showed the cause of death to be pulmonary embolism associated with deep vein thrombosis. The third patient was a 17-year-old female undergoing inpatient treatment for sinusitis when she suddenly died. Autopsy showed a large pulmonary embolus with no identified deep vein thrombosis. <a href="#43" class="mim-tip-reference" title="Slavotinek, A. M., Vacha, S. J., Peters, K. F., Biesecker, L. G. <strong>Sudden death caused by pulmonary thromboembolism in Proteus syndrome.</strong> Clin. Genet. 58: 386-389, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140839</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.580509.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140839">Slavotinek et al. (2000)</a> suggested that patients undergoing surgical procedures should be evaluated for coagulopathic potential and to determine whether antithrombotic prophylaxis is indicated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140839" 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="#17" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Causes of premature death in Proteus syndrome. (Editorial)</strong> Am. J. Med. Genet. 101: 1-3, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343327</a>] [<a href="https://doi.org/10.1002/ajmg.1311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343327">Cohen (2001)</a> reviewed at least 17 reported cases of premature death in Proteus syndrome and suggested that patients with this disorder and/or their families should make their health care providers aware of the risk of deep venous thrombosis and pulmonary embolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343327" 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="Biesecker, L. G. <strong>The multifaceted challenges of Proteus syndrome.</strong> JAMA 285: 2240-2243, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11325326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11325326</a>] [<a href="https://doi.org/10.1001/jama.285.17.2240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11325326">Biesecker (2001)</a> reviewed Proteus syndrome in relation to a 5-year-old patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11325326" 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="#36" class="mim-tip-reference" title="Mackay, G., Spitz, L., McHugh, K. <strong>Lipomatosis of the colon complicating Proteus syndrome.</strong> Arch. Dis. Child. 86: 265 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11919100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11919100</a>] [<a href="https://doi.org/10.1136/adc.86.4.265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11919100">Mackay et al. (2002)</a> reported a 12-year-old boy with Proteus syndrome who had presented with gross abdominal distention and severe intractable constipation. Axial T1-weighted MRI showed diffuse hyperintense signal tissue typical of fat surrounding and separating bowel loops. The lesion extended posteriorly on the left into the paraspinal musculature, displacing the psoas muscle anteriorly. At laparotomy a huge infiltrating lipomatous mass was found encasing the left colon, including the rectum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11919100" 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="#39" class="mim-tip-reference" title="Mohamedbhai, A. G., Hassan Miyan, A. M., Lacombe, D. <strong>Neonatal Proteus syndrome? (Letter)</strong> Am. J. Med. Genet. 112: 228-230, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12244562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12244562</a>] [<a href="https://doi.org/10.1002/ajmg.10650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12244562">Mohamedbhai et al. (2002)</a> reported the case of a newborn male with Proteus syndrome whose mother had ingested misoprostol, an orally active prostaglandin, at 6 weeks' gestation in an attempt to abort the pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12244562" 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>See encephalocraniocutaneous lipomatosis (ECCL; <a href="/entry/613001">613001</a>), which shares many features with Proteus syndrome.</p><p><strong><em>Elattoproteus Syndrome</em></strong></p><p>
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<a href="#28" class="mim-tip-reference" title="Happle, R. <strong>Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome.</strong> Am. J. Med. Genet. 84: 25-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213042</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<25::aid-ajmg6>3.0.co;2-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10213042">Happle (1999)</a> suggested the designation elattoproteus syndrome for a disorder that he considered to be an inverse form of Proteus syndrome. He described a 7-year-old boy with partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only a few rather mild lesions of disproportionate overgrowth. The presence of a hyperostosis of the external auditory meatus was taken as a highly characteristic sign of Proteus syndrome (<a href="#16" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Proteus syndrome: clinical evidence for somatic mosaicism and selective review.</strong> Am. J. Med. Genet. 47: 645-652, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266991</a>] [<a href="https://doi.org/10.1002/ajmg.1320470514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8266991">Cohen, 1993</a>; <a href="#44" class="mim-tip-reference" title="Smeets, E., Fryns, J.-P., Cohen, M. M., Jr. <strong>Regional Proteus syndrome and somatic mosaicism.</strong> Am. J. Med. Genet. 51: 29-31, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8030665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8030665</a>] [<a href="https://doi.org/10.1002/ajmg.1320510107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8030665">Smeets et al., 1994</a>). <a href="#28" class="mim-tip-reference" title="Happle, R. <strong>Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome.</strong> Am. J. Med. Genet. 84: 25-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213042</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<25::aid-ajmg6>3.0.co;2-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10213042">Happle (1999)</a> proposed to explain this unusual phenotype in the following way: 'At the (so far unknown) gene locus responsible for Proteus syndrome, there may occur various allelic mutations giving rise to overgrowth of somatic tissues. Such mutations can be called Pleioproteus alleles, a term derived from the Greek word 'pleion,' meaning plus. Conversely, the same gene locus may harbor alleles responsible for deficient growth of somatic tissues. Such mutations can be called Elattoproteus alleles, after the Greek word 'elatton,' meaning minus. Patients affected with Proteus syndrome may show classic overgrowth or a mixture of Pleioproteus and Elattoproteus lesions or even an isolated elattoproteus phenotype that has so far not been described.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10213042+8030665+8266991" 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="#5" class="mim-tip-reference" title="Biesecker, L. G., Happle, R., Mulliken, J. B., Weksberg, R., Graham, J. M., Jr., Viljoen, D. L., Cohen, M. M., Jr. <strong>Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.</strong> Am. J. Med. Genet. 84: 389-395, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360391</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10360391">Biesecker et al. (1999)</a> reviewed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients with Proteus syndrome that were developed at a workshop held at the National Institutes of Health in 1998. General criteria suggested as mandatory for the diagnosis were mosaic distribution of lesions, progressive course, and sporadic occurrence. Specific clinical manifestations also were suggested as necessary to meet diagnostic criteria. Connective tissue nevi, common manifestations in Proteus syndrome, were considered almost pathognomonic for the syndrome, although they are not present in all cases. Other combinations of manifestations (e.g., epidermal nevus, disproportionate overgrowth, specific tumors) were suggested to meet the diagnostic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10360391" 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="#48" class="mim-tip-reference" title="Turner, J. T., Cohen, M. M., Jr., Biesecker, L. G. <strong>Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.</strong> Am. J. Med. Genet. 130A: 111-122, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372514</a>] [<a href="https://doi.org/10.1002/ajmg.a.30327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372514">Turner et al. (2004)</a> reviewed 205 reported cases of Proteus syndrome. Only 97 (47.3%) were thought to meet the diagnostic criteria for Proteus syndrome; 80 cases (39%) clearly did not meet the criteria; and although 28 cases (13.7%) had features suggestive of Proteus syndrome, there were insufficient clinical data to make a diagnosis. Reported cases that met the Proteus syndrome criteria had a higher incidence of premature death and other complications (scoliosis, megaspondyly, central nervous system abnormalities, tumors, otolaryngologic complications, pulmonary cystic malformations, dental and ophthalmic complications) compared to those in the non-Proteus group. Cases that met the criteria were more often male, which has implications for hypotheses regarding the etiology and pathophysiology of Proteus syndrome. <a href="#48" class="mim-tip-reference" title="Turner, J. T., Cohen, M. M., Jr., Biesecker, L. G. <strong>Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.</strong> Am. J. Med. Genet. 130A: 111-122, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372514</a>] [<a href="https://doi.org/10.1002/ajmg.a.30327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372514">Turner et al. (2004)</a> suggested revised diagnosis criteria for Proteus syndrome. Cerebriform connective tissue nevi (skin lesions characterized by deep grooves and gyrations as seen on the surface of the brain, which may be striking on the hands and feet) were considered characteristic. Specific tumors occurring before the second decade include ovarian cystadenoma and parotid monomorphic adenoma. Lung cysts were added as a criterion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review, <a href="#18" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Proteus syndrome review: molecular, clinical, and pathologic features.</strong> Clin. Genet. 85: 111-119, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23992099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23992099</a>] [<a href="https://doi.org/10.1111/cge.12266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23992099">Cohen (2014)</a> provided revised diagnostic criteria for Proteus syndrome, noting that the presence of cerebriform connective tissue nevus is a major diagnostic feature, although it is not found in all patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23992099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Bialer, M. G., Riedy, M. J., Wilson, W. G. <strong>Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.</strong> Europ. J. Pediat. 148: 122-125, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3234431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3234431</a>] [<a href="https://doi.org/10.1007/BF00445918" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3234431">Bialer et al. (1988)</a> discussed the differential diagnosis of the Proteus and Bannayan-Zonana syndromes. In their review of the literature, they found a history of consanguinity in 2 of 36 families with the Proteus syndrome. They stated that overlap among syndromes that include hamartomata as prominent features suggests that they may be etiologically or pathogenetically related, perhaps involving abnormal secretion of a growth factor or abnormal tissue or tissue response to a growth factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3234431" 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="#8" class="mim-tip-reference" title="Brockmann, K., Happle, R., Oeffner, F., Konig, A. <strong>Monozygotic twins discordant for Proteus syndrome.</strong> Am. J. Med. Genet. 146A: 2122-2125, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18627057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18627057</a>] [<a href="https://doi.org/10.1002/ajmg.a.32417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18627057">Brockmann et al. (2008)</a> reported a pair of monozygotic 9-year-old male twins discordant for Proteus syndrome. The affected boy showed progressive postnatal overgrowth of his right leg and foot with asymmetric progressive overgrowth of single toes. There was a small cerebriform connective tissue nevus on his right fourth toe. The phenotype was mild but still fulfilled diagnostic criteria for Proteus syndrome. The findings supported the hypothesis that this condition is caused by a postzygotic mutation event resulting in mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18627057" 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="#35" class="mim-tip-reference" title="Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., Turner, J., Cannons, J. L., Bick, D., Blakemore, L., Blumhorst, C., Brockmann, K., and 28 others. <strong>A mosaic activating mutation in AKT1 associated with the Proteus syndrome.</strong> New Eng. J. Med. 365: 611-619, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21793738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21793738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21793738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1104017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21793738">Lindhurst et al. (2011)</a> performed exome sequencing of 11 DNA samples from 6 patients with Proteus syndrome as well as 1 sample each from 5 unaffected parents and from 1 patient's unaffected identical twin sib, and identified an activating missense mutation in the AKT1 gene (E17K; <a href="/entry/164730#0001">164730.0001</a>) in 7 samples from 3 patients. The association was confirmed using a custom restriction-enzyme assay: overall, 26 (90%) of 29 patients with Proteus syndrome who were tested carried the mutation, as detected in 1 or more samples, with the fraction of mutant DNA in the positive specimens ranging from 1% to approximately 50%. <a href="#35" class="mim-tip-reference" title="Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., Turner, J., Cannons, J. L., Bick, D., Blakemore, L., Blumhorst, C., Brockmann, K., and 28 others. <strong>A mosaic activating mutation in AKT1 associated with the Proteus syndrome.</strong> New Eng. J. Med. 365: 611-619, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21793738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21793738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21793738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1104017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21793738">Lindhurst et al. (2011)</a> stated that there was no association between the proportion of mutant alleles and the overall clinical severity or specific manifestations of the phenotype; in addition, their data did not suggest a specific stage during development at which the mutation arose in these patients. Samples from 3 patients with typical Proteus syndrome were negative for the mutation; noting that only 2, 1, and 3 samples, respectively, were analyzed from these patients, who were clinically indistinguishable from mutation-positive patients, the authors stated that it was likely that these samples were negative by chance. <a href="#35" class="mim-tip-reference" title="Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., Turner, J., Cannons, J. L., Bick, D., Blakemore, L., Blumhorst, C., Brockmann, K., and 28 others. <strong>A mosaic activating mutation in AKT1 associated with the Proteus syndrome.</strong> New Eng. J. Med. 365: 611-619, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21793738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21793738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21793738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1104017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21793738">Lindhurst et al. (2011)</a> noted that their findings supported the mosaicism hypothesis that had been advanced earlier by <a href="#27" class="mim-tip-reference" title="Happle, R. <strong>Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.</strong> J. Am. Acad. Derm. 16: 899-906, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3033033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3033033</a>] [<a href="https://doi.org/10.1016/s0190-9622(87)80249-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3033033">Happle (1987)</a>, who suggested that sporadically occurring disorders with an irregular distribution of skin involvement, such as Proteus syndrome, might be the result of an autosomal dominant lethal gene that was compatible with survival only in the mosaic state. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3033033+21793738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Barker, K., Martinez, A., Wang, R., Bevan, S., Murday, V., Shipley, J., Houlston, R., Harper, J. <strong>PTEN mutations are uncommon in Proteus syndrome.</strong> J. Med. Genet. 38: 480-481, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11476065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11476065</a>] [<a href="https://doi.org/10.1136/jmg.38.7.480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11476065">Barker et al. (2001)</a> did not identify mutations in the PTEN gene in 8 unrelated patients with classic Proteus syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11476065" 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="#47" class="mim-tip-reference" title="Thiffault, I., Schwartz, C. E., Der Kaloustian, V., Foulkes, W. D. <strong>Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.</strong> Am. J. Med. Genet. 130A: 123-127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372512</a>] [<a href="https://doi.org/10.1002/ajmg.a.30335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372512">Thiffault et al. (2004)</a> stated that the most plausible suggestion for the genetic basis of Proteus syndrome is the Happle somatic mosaic hypothesis (<a href="#28" class="mim-tip-reference" title="Happle, R. <strong>Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome.</strong> Am. J. Med. Genet. 84: 25-28, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213042</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<25::aid-ajmg6>3.0.co;2-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10213042">Happle, 1999</a>), although no somatic mutations in candidate genes had been reported. Because germline mutations in the PTEN gene had been identified in patients diagnosed with Proteus syndrome, <a href="#47" class="mim-tip-reference" title="Thiffault, I., Schwartz, C. E., Der Kaloustian, V., Foulkes, W. D. <strong>Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.</strong> Am. J. Med. Genet. 130A: 123-127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372512</a>] [<a href="https://doi.org/10.1002/ajmg.a.30335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372512">Thiffault et al. (2004)</a> screened affected and unaffected tissue from 6 patients with Proteus syndrome by direct sequencing of genomic DNA for germline or somatic mutations in the PTEN or GPC3 (<a href="/entry/300037">300037</a>) genes. No intraexonic mutations were identified, indicating that neither PTEN nor GPC3 was likely to have a major role in the etiology of Proteus syndrome in this series of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10213042+15372512" 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>Using 2 different methods, chimeric and mosaic, <a href="#34" class="mim-tip-reference" title="Lindhurst, M. J., Brinster, L. R., Kondolf, H. C., Shwetar, J. J., Yourick, M. R., Shiferaw, H., Keppler-Noreuil, K. M., Elliot, G., Rivas, C., Garrett, L., Gomez-Rodriguez, J., Sebire, N. J., Hewitt, S. M., Schwartzberg, P. L., Biesecker, L. G. <strong>A mouse model of Proteus syndrome.</strong> Hum. Molec. Genet. 28: 2920-2936, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31194862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31194862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31194862[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddz116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31194862">Lindhurst et al. (2019)</a> generated Proteus syndrome mouse models that endogenously regulated mosaic expression of the Proteus syndrome variant, E17K. Mice generated by both methods displayed characteristic types of overgrowth seen in human patients with Proteus syndrome, including vascular malformations, cysts, hyperplasia, and stromal expansion, with the chimeric method appearing to be more successful than the mosaic method. Identification of E17K-positive cells and increased Akt signaling in lesional tissue of chimeric Proteus syndrome mice revealed that the E17K-positive cells likely signaled neighboring E17K-negative cells to proliferate, suggesting that the Proteus syndrome variant drove overgrowth in a non-cell autonomous manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31194862" 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>Although <a href="#51" class="mim-tip-reference" title="Wiedemann, H.-R., Burgio, G. R., Aldenhoff, P., Kunze, J., Kaufmann, H. J., Schirg, E. <strong>The Proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.</strong> Europ. J. Pediat. 140: 5-12, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873112</a>] [<a href="https://doi.org/10.1007/BF00661895" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873112">Wiedemann et al. (1983)</a> made this syndrome generally known, it had previously been delineated by <a href="#12" class="mim-tip-reference" title="Cohen, M. M., Jr., Hayden, P. W. <strong>A new recognized hamartomatous syndrome.</strong> Birth Defects Orig. Art. Ser. 15(5B): 291-296, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/118782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">118782</a>]" pmid="118782">Cohen and Hayden (1979)</a>. The assignment of a name with mnemonic value perhaps accounts for the greater success of Wiedemann than of Cohen in bringing the disorder to general attention. (Also, Cohen and Hayden's report was in a more obscure publication than Wiedemann's.) Cohen (<a href="#13" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>The Elephant Man did not have neurofibromatosis.</strong> Proc. Greenwood Genet. Center 6: 187-192, 1987."None>1987</a>, <a href="#15" class="mim-tip-reference" " title="Cohen, M. M., Jr. <strong>Understanding Proteus syndrome, unmasking the Elephant Man, and stemming elephant fever.</strong> Neurofibromatosis 1: 260-280, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3152479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3152479</a>]" pmid="3152479">1988</a>, <a href="#14" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Further diagnostic thoughts about the Elephant Man.</strong> Am. J. Med. Genet. 29: 777-782, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3135754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3135754</a>] [<a href="https://doi.org/10.1002/ajmg.1320290407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3135754">1988</a>) believed that Joseph Merrick (the Elephant Man), the famous patient of Sir Frederick Treves, had Proteus syndrome, not neurofibromatosis (<a href="/entry/162200">162200</a>) as often thought. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3152479+6873112+118782+3135754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Gorlin1984" class="mim-tip-reference" title="Gorlin, R. J. <strong>Proteus syndrome.</strong> J. Clin. Dysmorph. 2: 8-9, 1984.">Gorlin (1984)</a>; <a href="#Lezama1984" class="mim-tip-reference" title="Lezama, D. B., Buyse, M. L. <strong>The Proteus syndrome: the emergence of an entity.</strong> J. Clin. Dysmorph. 2: 10-13, 1984.">Lezama and Buyse (1984)</a>; <a href="#Mucke1985" class="mim-tip-reference" title="Mucke, J., Willgerodt, H., Kunzel, R., Brock, D. <strong>Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis.</strong> Europ. J. Pediat. 143: 320-323, 1985.">Mucke et al. (1985)</a>
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Barker, K., Martinez, A., Wang, R., Bevan, S., Murday, V., Shipley, J., Houlston, R., Harper, J.
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<strong>PTEN mutations are uncommon in Proteus syndrome.</strong>
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J. Med. Genet. 38: 480-481, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11476065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11476065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11476065" 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/10.1136/jmg.38.7.480" target="_blank">Full Text</a>]
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Beluffi, G., DiGiulio, G., Fiori, P.
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<strong>Pelvic lipomatosis in the Proteus syndrome: a further diagnostic sign. (Letter)</strong>
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Europ. J. Pediat. 149: 866 only, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2226574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2226574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2226574" 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/10.1007/BF02072076" target="_blank">Full Text</a>]
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<strong>Rescue of a lethal T/t locus genotype by chimaerism with normal embryos.</strong>
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Nature 272: 539 only, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/692659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">692659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=692659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bialer, M. G., Riedy, M. J., Wilson, W. G.
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<strong>Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.</strong>
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Europ. J. Pediat. 148: 122-125, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3234431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3234431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3234431" 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/10.1007/BF00445918" target="_blank">Full Text</a>]
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<strong>Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.</strong>
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Am. J. Med. Genet. 84: 389-395, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10360391" 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/10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<311::aid-ajmg14>3.0.co;2-u" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/jama.285.17.2240" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32417" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00442754" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/emj.14.2.111" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320270111" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320290407" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470514" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1311" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291899" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<25::aid-ajmg6>3.0.co;2-f" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.82.3.234" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450132" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.86.4.265" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320270112" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470516" target="_blank">Full Text</a>]
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Slavotinek, A. M., Vacha, S. J., Peters, K. F., Biesecker, L. G.
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<strong>Sudden death caused by pulmonary thromboembolism in Proteus syndrome.</strong>
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Clin. Genet. 58: 386-389, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2000.580509.x" target="_blank">Full Text</a>]
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<a id="Smeets1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smeets, E., Fryns, J.-P., Cohen, M. M., Jr.
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<strong>Regional Proteus syndrome and somatic mosaicism.</strong>
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Am. J. Med. Genet. 51: 29-31, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8030665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8030665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8030665" 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/10.1002/ajmg.1320510107" target="_blank">Full Text</a>]
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<a id="Smith2002" class="mim-anchor"></a>
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<p class="mim-text-font">
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Smith, J. M., Kirk, E. P. E., Theodosopoulos, G., Marshall, G. M., Walker, J., Rogers, M., Field, M., Brereton, J. J., Marsh, D. J.
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<strong>Germline mutation of the tumour suppressor PTEN in Proteus syndrome. (Letter)</strong>
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J. Med. Genet. 39: 937-940, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12471211" 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/10.1136/jmg.39.12.937" target="_blank">Full Text</a>]
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<a id="Temtamy1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Temtamy, S. A., Rogers, J. G.
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<strong>Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature.</strong>
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J. Pediat. 89: 924-927, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/993918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">993918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=993918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(76)80597-5" target="_blank">Full Text</a>]
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<a id="Thiffault2004" class="mim-anchor"></a>
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Thiffault, I., Schwartz, C. E., Der Kaloustian, V., Foulkes, W. D.
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<strong>Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.</strong>
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Am. J. Med. Genet. 130A: 123-127, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372512" 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/10.1002/ajmg.a.30335" target="_blank">Full Text</a>]
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Turner, J. T., Cohen, M. M., Jr., Biesecker, L. G.
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<strong>Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.</strong>
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Am. J. Med. Genet. 130A: 111-122, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372514" 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/10.1002/ajmg.a.30327" target="_blank">Full Text</a>]
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<a id="Viljoen1987" class="mim-anchor"></a>
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Viljoen, D. L., Nelson, M. M., de Jong, G., Beighton, P.
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<strong>Proteus syndrome in Southern Africa: natural history and clinical manifestations in six individuals.</strong>
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Am. J. Med. Genet. 27: 87-97, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3605209" 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/10.1002/ajmg.1320270110" target="_blank">Full Text</a>]
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Viljoen, D. L., Saxe, N., Temple-Camp, C.
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<strong>Cutaneous manifestations of the Proteus syndrome.</strong>
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Pediat. Derm. 5: 14-21, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3380758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3380758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3380758" 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.1525-1470.1988.tb00878.x" target="_blank">Full Text</a>]
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<a id="51" class="mim-anchor"></a>
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<a id="Wiedemann1983" class="mim-anchor"></a>
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Wiedemann, H.-R., Burgio, G. R., Aldenhoff, P., Kunze, J., Kaufmann, H. J., Schirg, E.
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<strong>The Proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.</strong>
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Europ. J. Pediat. 140: 5-12, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873112" 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/10.1007/BF00661895" target="_blank">Full Text</a>]
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<a id="Zhou2001" class="mim-anchor"></a>
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Zhou, X., Hampel, H., Thiele, H., Gorlin, R. J., Hennekam, R. C., Parisi, M., Winter, R. M., Eng, C.
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<strong>Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.</strong>
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Lancet 358: 210-211, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11476841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11476841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11476841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(01)05412-5" target="_blank">Full Text</a>]
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<a id="Zhou2000" class="mim-anchor"></a>
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Zhou, X.-P., Marsh, D. J., Hampel, H., Mulliken, J. B., Gimm, O., Eng, C.
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<strong>Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.</strong>
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Hum. Molec. Genet. 9: 765-768, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10749983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.5.765" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 09/02/2021
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/26/2014<br>Marla J. F. O'Neill - updated : 8/1/2011<br>Cassandra L. Kniffin - updated : 10/20/2008<br>Cassandra L. Kniffin - updated : 12/14/2007<br>Victor A. McKusick - updated : 11/23/2004<br>Victor A. McKusick - updated : 6/30/2003<br>Deborah L. Stone - updated : 4/2/2003<br>Cassandra L. Kniffin - reorganized : 3/4/2003<br>Victor A. McKusick - updated : 2/12/2003<br>Paul Brennan - updated : 6/26/2002<br>Victor A. McKusick - updated : 5/16/2001<br>Victor A. McKusick - updated : 12/18/2000<br>Victor A. McKusick - updated : 8/17/2000<br>Victor A. McKusick - updated : 6/7/2000<br>George E. Tiller - updated : 4/26/2000<br>Paul Brennan - updated : 4/10/2000<br>Sonja A. Rasmussen - updated : 6/30/1999<br>Victor A. McKusick - updated : 4/14/1999<br>Victor A. McKusick - updated : 10/28/1998<br>Iosif W. Lurie - updated : 8/12/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 03/20/2023
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carol : 06/09/2022<br>mgross : 09/02/2021<br>carol : 06/27/2018<br>carol : 06/26/2014<br>ckniffin : 6/26/2014<br>carol : 5/10/2012<br>carol : 9/1/2011<br>carol : 8/1/2011<br>terry : 5/20/2010<br>carol : 9/4/2009<br>carol : 7/13/2009<br>terry : 6/3/2009<br>wwang : 10/22/2008<br>ckniffin : 10/20/2008<br>wwang : 12/20/2007<br>ckniffin : 12/20/2007<br>wwang : 12/20/2007<br>ckniffin : 12/14/2007<br>tkritzer : 11/30/2004<br>terry : 11/23/2004<br>carol : 11/18/2004<br>tkritzer : 7/15/2003<br>tkritzer : 7/9/2003<br>terry : 6/30/2003<br>tkritzer : 4/2/2003<br>tkritzer : 4/2/2003<br>carol : 3/4/2003<br>ckniffin : 2/26/2003<br>ckniffin : 2/24/2003<br>carol : 2/20/2003<br>terry : 2/12/2003<br>alopez : 6/26/2002<br>mcapotos : 5/23/2001<br>mcapotos : 5/21/2001<br>terry : 5/16/2001<br>mcapotos : 1/4/2001<br>mcapotos : 1/2/2001<br>terry : 12/18/2000<br>mcapotos : 8/29/2000<br>terry : 8/17/2000<br>carol : 6/9/2000<br>terry : 6/7/2000<br>alopez : 4/27/2000<br>alopez : 4/26/2000<br>alopez : 4/10/2000<br>carol : 6/30/1999<br>kayiaros : 6/29/1999<br>terry : 5/11/1999<br>mgross : 4/20/1999<br>mgross : 4/16/1999<br>terry : 4/14/1999<br>carol : 11/30/1998<br>carol : 11/4/1998<br>terry : 10/28/1998<br>mark : 11/5/1997<br>carol : 8/12/1996<br>mark : 1/16/1996<br>terry : 1/11/1996<br>mark : 6/20/1995<br>mimadm : 2/25/1995<br>jason : 6/28/1994<br>carol : 1/19/1994<br>carol : 11/16/1993<br>carol : 11/1/1993
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<span class="mim-font">
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<strong>#</strong> 176920
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<h3>
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PROTEUS SYNDROME
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<em>Alternative titles; symbols</em>
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GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY
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Other entities represented in this entry:
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<span class="h3 mim-font">
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ELATTOPROTEUS SYNDROME, INCLUDED
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<strong>SNOMEDCT:</strong> 23150001;
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<strong>ORPHA:</strong> 744;
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<strong>DO:</strong> 13482;
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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 <br /> MIM number
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14q32.33
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Proteus syndrome, somatic
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176920
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3
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AKT1
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164730
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<p>A number sign (#) is used with this entry because of evidence that Proteus syndrome is associated with mosaicism for a somatic activating mutation in the AKT1 gene (164730) on chromosome 14q32.3.</p>
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<strong>Description</strong>
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<p>Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Specific features include cerebriform connective tissue nevus, thin limbs, lipomas, and lung cysts. Some patients may have intellectual disability with dysmorphic facies. Deep venous thrombosis is common and constitutes a significant risk factor. Many features of Proteus syndrome overlap with other overgrowth syndromes (Turner et al., 2004; review by Cohen, 2014). </p><p>Cohen (2014) provided a detailed review of the clinical features, diagnosis, and management issues of Proteus syndrome. </p><p>Some authors (Zhou et al. (2000, 2001); Smith et al., 2002) have reported a 'Proteus-like' syndrome associated with germline and tissue-specific somatic mutations in the PTEN gene (601728), which is mutated in Cowden syndrome (CWS1); see 158350 for a discussion of these patients. </p>
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<strong>Clinical Features</strong>
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<p>Wiedemann et al. (1983) described a 'new' syndrome in 4 unrelated boys with the combination of partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies, and possible accelerated growth and visceral affections. The authors considered the disorder to fall into the category of congenital hamartomatous disorders and to be 'undoubtedly genetically determined,' perhaps as an autosomal dominant disorder. They named the syndrome for the Greek god Proteus, 'the polymorphous,' who could change his shape at will to avoid capture. Wiedemann et al. (1983) suggested that the patient reported by Temtamy and Rogers (1976) and probably also the patient of Graetz (1928) may have had this disorder. The disorder might be confused with the Klippel-Trenaunay-Weber syndrome (149000) and with Ollier disease (166000) and Maffucci syndrome (614569). Burgio and Wiedemann (1984) found that the skin changes are papillomatous epidermal nevi. </p><p>Costa et al. (1985) reported 2 cases; both had abdominal and pelvic lipomatosis. One, a 7-year-old boy, was noted at age 3 to have a conjunctival dermoid. Laparotomy at age 6 for acute abdominal pain showed right iliac fossa lipomatosis and twisted necrotic mesenteric fat as the presumed cause of pain. Some similarities to the Bannayan-Zonana syndrome (see 158350) and linear sebaceous nevus syndrome (163200) were noted. Costa et al. (1985) noted that mean paternal age at the time of birth of 10 of the patients was 30 (range 23 to 40), which is probably not significantly elevated. </p><p>Happle (1986) pointed out that the lesions follow the lines of Blaschko and suggested that the cause is a dominant lethal gene surviving by mosaicism. He suggested this mechanism also for Schimmelpenning-Feuerstein-Mims syndrome (163200) and the McCune-Albright syndrome (174800). (The hypothesis has been proved in the case of the latter condition.) Rescue of a lethal genotype by chimerism with normal embryos (Bennett, 1978) is an experimental model of this mode of inheritance. </p><p>Viljoen et al. (1987), Clark et al. (1987) and Malamitsi-Puchner et al. (1987) reported 6 cases, 11 cases, and 1 case, respectively. All emphasized lipomatosis as a feature. Malamitsi-Puchner et al. (1990) provided follow-up on the severely affected child originally reported by Malamitsi-Puchner et al. (1987). They found that striking overgrowth of tissues occurred after surgical operations. Furthermore, the patient, a 4.5-year-old child, developed testicular malignancy. </p><p>Viljoen et al. (1987) mentioned that surgical removal of lymphatic, fatty, or hemangiomatous elements is difficult and results in unsightly scars and keloids. Viljoen et al. (1988) described the skin manifestations of the Proteus syndrome in 6 patients. All had marked hypertrophy of the skin of the soles, which the authors believed to be a unique feature of this syndrome. Large epidermal nevi and linear macular lesions with areas of depigmentation and hyperpigmentation were seen in 3 patients. Light microscopy of affected skin from the soles demonstrated elongation of the cytoplasm of basal cells. Samlaska et al. (1989) reported a typical case and reviewed 34 reported cases, all sporadic. </p><p>Beluffi et al. (1990) reported a case with pelvic lipomatosis and demonstrated the use of CT scan for revealing pelvic lipomatosis. Hotamisligil and Ertogan (1990) described the case of a 9-month-old girl who, in addition to other features, had soft tissue masses in the paravertebral and gluteal areas with aggressive involvement of the spinal canal and a hyperpigmented epidermal nevus with hyperkeratosis on the left half of the body. There was macrodactyly of both feet and the left hand with syndactyly of the third and fourth left fingers. Nephrogenic diabetes insipidus was described in the Proteus syndrome for the first time. </p><p>Although Proteus syndrome is considered a sporadic congenital disorder, some reports have suggested familial transmission. Goodship et al. (1991) presented a possible case of father-son transmission of Proteus syndrome. The son had cranial hemihypertrophy, a lymphangioma, a lipoma, and epidermal nevi. The father had had a large lymphangioma resected from the right side of his face as a child. The possibility that the father was mosaic was raised. Kruger et al. (1993) observed mild Proteus syndrome in a boy whose mother had very mild manifestations. The mentally normal son had mild hypertrophy of the left side of the upper lip and cheek with impaired mimic expression in this region, hypertrophy of the left arm, partial gigantism of the left middle finger, and a large subcutaneous swelling in the upper left abdomen thought clinically and sonographically to be a lipoma. The mother had facial asymmetry with hypertrophy of the right lower cheek and impaired mimic expression in that region. Both the mother and the son had 'distinct venous marking' over the upper thorax. </p><p>Skovby et al. (1993) reported 2 patients who illustrated the 2 ways in which spinal compromise may develop in Proteus syndrome: vertebral anomalies or tumor infiltration. In one patient, spinal stenosis resulted from an angular kyphoscoliosis; in the other, cord compression resulted from infiltration of a paraspinal, intrathoracic angiolipoma. </p><p>Cohen (1993) reported 2 unusual cases that supported the concept of somatic mosaicism. In 1 patient, a huge connective tissue nevus covered the chest and abdomen, and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No enlargement of the limbs or digits occurred, and the plantar surfaces of the feet were normal. Cohen (1993) also reviewed selective aspects of Proteus syndrome, including uncommon neoplasms, pulmonary and renal abnormalities, brain malformations, and types of abnormal growth in the craniofacial skeleton. </p><p>Smeets et al. (1994) reported a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. The observations were interpreted as supporting the hypothesis of somatic mosaicism. </p><p>Gordon et al. (1995) observed 2 patients with Proteus syndrome who developed neoplasms. Patient 1 had a probable mesothelioma, although papillary carcinoma of the thyroid could not be completely ruled out; the patient, who died suddenly while sleeping at age 5 years, at autopsy had a papillary neoplasm, most likely of mesothelial origin, involving the inferior surface of the diaphragm and infiltrating into the musculature, within the omentum, in the pelvic area, within the scrotum, and within some of the mesenteric lymph nodes. Patient 2 had bilateral ovarian serous cystadenomas with nuclear atypia identified at 6 years and 3 months of age. A right ovarian oophorectomy was performed; invasion of the right fallopian tube was noted. A tabulation of uncommon neoplasms in Proteus syndrome was provided. </p><p>Lacombe and Battin (1996) described 2 unrelated children diagnosed at birth as having isolated macrodactyly (155500). Follow-up examination showed development of hemihypertrophy in both cases. Three dorsal angiomas were found in 1 child, a female, at the age of 4 years. The symptoms of both of these patients better fit the diagnostic criteria of Proteus syndrome. </p><p>Ceelen et al. (1997) described a man with Proteus syndrome who sustained a rupture of an enlarged spleen following a fall from a horse. Biesecker et al. (1998) described their experience with 18 patients with a referring diagnosis of Proteus syndrome. Splenic hyperplasia was found to be a manifestation. The spleen was enlarged in 2 of the 18 cases, and another patient with Proteus syndrome and asymptomatic splenomegaly was known to them. Enlargement of the thymus was also observed. Proteus syndrome was frequently confused with hemihyperplasia. Biesecker et al. (1998) described a distinct subtype of hemihyperplasia defined by static or mildly progressive hemihyperplasia and multiple lipomata. </p><p>De Becker et al. (2000) described ocular manifestations in a Proteus syndrome patient and reviewed ocular findings of published cases. Hodge et al. (2000) described a 10-year-old boy with Proteus syndrome who presented with a pericardial effusion and was found to have both hypogammaglobulinemia, with a specific deficiency in IgG and IgA accompanied by low levels of specific antibodies to pneumococcal and hemophilus type B polysaccharides, and global lymphopenia. No cause was found for this immune deficiency, leading the authors to suggest that it may represent a hitherto unrecognized feature of Proteus syndrome. </p><p>Gilbert-Barness et al. (2000) reported an unusual patient with Proteus syndrome in whom manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal. </p><p>Slavotinek et al. (2000) reported 3 patients with Proteus syndrome who died suddenly from pulmonary embolism. The first patient, who was diagnosed with Proteus syndrome at the age of 12 years, had varicose veins, portal vein thrombosis, right iliac vein occlusion, and recurrent pulmonary embolism. At age 25 years he died from pulmonary embolism. The second patient was a 9-year-old male who collapsed and died at home. Autopsy showed the cause of death to be pulmonary embolism associated with deep vein thrombosis. The third patient was a 17-year-old female undergoing inpatient treatment for sinusitis when she suddenly died. Autopsy showed a large pulmonary embolus with no identified deep vein thrombosis. Slavotinek et al. (2000) suggested that patients undergoing surgical procedures should be evaluated for coagulopathic potential and to determine whether antithrombotic prophylaxis is indicated. </p><p>Cohen (2001) reviewed at least 17 reported cases of premature death in Proteus syndrome and suggested that patients with this disorder and/or their families should make their health care providers aware of the risk of deep venous thrombosis and pulmonary embolism. </p><p>Biesecker (2001) reviewed Proteus syndrome in relation to a 5-year-old patient. </p><p>Mackay et al. (2002) reported a 12-year-old boy with Proteus syndrome who had presented with gross abdominal distention and severe intractable constipation. Axial T1-weighted MRI showed diffuse hyperintense signal tissue typical of fat surrounding and separating bowel loops. The lesion extended posteriorly on the left into the paraspinal musculature, displacing the psoas muscle anteriorly. At laparotomy a huge infiltrating lipomatous mass was found encasing the left colon, including the rectum. </p><p>Mohamedbhai et al. (2002) reported the case of a newborn male with Proteus syndrome whose mother had ingested misoprostol, an orally active prostaglandin, at 6 weeks' gestation in an attempt to abort the pregnancy. </p><p>See encephalocraniocutaneous lipomatosis (ECCL; 613001), which shares many features with Proteus syndrome.</p><p><strong><em>Elattoproteus Syndrome</em></strong></p><p>
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Happle (1999) suggested the designation elattoproteus syndrome for a disorder that he considered to be an inverse form of Proteus syndrome. He described a 7-year-old boy with partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only a few rather mild lesions of disproportionate overgrowth. The presence of a hyperostosis of the external auditory meatus was taken as a highly characteristic sign of Proteus syndrome (Cohen, 1993; Smeets et al., 1994). Happle (1999) proposed to explain this unusual phenotype in the following way: 'At the (so far unknown) gene locus responsible for Proteus syndrome, there may occur various allelic mutations giving rise to overgrowth of somatic tissues. Such mutations can be called Pleioproteus alleles, a term derived from the Greek word 'pleion,' meaning plus. Conversely, the same gene locus may harbor alleles responsible for deficient growth of somatic tissues. Such mutations can be called Elattoproteus alleles, after the Greek word 'elatton,' meaning minus. Patients affected with Proteus syndrome may show classic overgrowth or a mixture of Pleioproteus and Elattoproteus lesions or even an isolated elattoproteus phenotype that has so far not been described.' </p>
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<strong>Diagnosis</strong>
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<p>Biesecker et al. (1999) reviewed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients with Proteus syndrome that were developed at a workshop held at the National Institutes of Health in 1998. General criteria suggested as mandatory for the diagnosis were mosaic distribution of lesions, progressive course, and sporadic occurrence. Specific clinical manifestations also were suggested as necessary to meet diagnostic criteria. Connective tissue nevi, common manifestations in Proteus syndrome, were considered almost pathognomonic for the syndrome, although they are not present in all cases. Other combinations of manifestations (e.g., epidermal nevus, disproportionate overgrowth, specific tumors) were suggested to meet the diagnostic criteria. </p><p>Turner et al. (2004) reviewed 205 reported cases of Proteus syndrome. Only 97 (47.3%) were thought to meet the diagnostic criteria for Proteus syndrome; 80 cases (39%) clearly did not meet the criteria; and although 28 cases (13.7%) had features suggestive of Proteus syndrome, there were insufficient clinical data to make a diagnosis. Reported cases that met the Proteus syndrome criteria had a higher incidence of premature death and other complications (scoliosis, megaspondyly, central nervous system abnormalities, tumors, otolaryngologic complications, pulmonary cystic malformations, dental and ophthalmic complications) compared to those in the non-Proteus group. Cases that met the criteria were more often male, which has implications for hypotheses regarding the etiology and pathophysiology of Proteus syndrome. Turner et al. (2004) suggested revised diagnosis criteria for Proteus syndrome. Cerebriform connective tissue nevi (skin lesions characterized by deep grooves and gyrations as seen on the surface of the brain, which may be striking on the hands and feet) were considered characteristic. Specific tumors occurring before the second decade include ovarian cystadenoma and parotid monomorphic adenoma. Lung cysts were added as a criterion. </p><p>In a review, Cohen (2014) provided revised diagnostic criteria for Proteus syndrome, noting that the presence of cerebriform connective tissue nevus is a major diagnostic feature, although it is not found in all patients. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Bialer et al. (1988) discussed the differential diagnosis of the Proteus and Bannayan-Zonana syndromes. In their review of the literature, they found a history of consanguinity in 2 of 36 families with the Proteus syndrome. They stated that overlap among syndromes that include hamartomata as prominent features suggests that they may be etiologically or pathogenetically related, perhaps involving abnormal secretion of a growth factor or abnormal tissue or tissue response to a growth factor. </p>
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<p>Brockmann et al. (2008) reported a pair of monozygotic 9-year-old male twins discordant for Proteus syndrome. The affected boy showed progressive postnatal overgrowth of his right leg and foot with asymmetric progressive overgrowth of single toes. There was a small cerebriform connective tissue nevus on his right fourth toe. The phenotype was mild but still fulfilled diagnostic criteria for Proteus syndrome. The findings supported the hypothesis that this condition is caused by a postzygotic mutation event resulting in mosaicism. </p>
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<p>Lindhurst et al. (2011) performed exome sequencing of 11 DNA samples from 6 patients with Proteus syndrome as well as 1 sample each from 5 unaffected parents and from 1 patient's unaffected identical twin sib, and identified an activating missense mutation in the AKT1 gene (E17K; 164730.0001) in 7 samples from 3 patients. The association was confirmed using a custom restriction-enzyme assay: overall, 26 (90%) of 29 patients with Proteus syndrome who were tested carried the mutation, as detected in 1 or more samples, with the fraction of mutant DNA in the positive specimens ranging from 1% to approximately 50%. Lindhurst et al. (2011) stated that there was no association between the proportion of mutant alleles and the overall clinical severity or specific manifestations of the phenotype; in addition, their data did not suggest a specific stage during development at which the mutation arose in these patients. Samples from 3 patients with typical Proteus syndrome were negative for the mutation; noting that only 2, 1, and 3 samples, respectively, were analyzed from these patients, who were clinically indistinguishable from mutation-positive patients, the authors stated that it was likely that these samples were negative by chance. Lindhurst et al. (2011) noted that their findings supported the mosaicism hypothesis that had been advanced earlier by Happle (1987), who suggested that sporadically occurring disorders with an irregular distribution of skin involvement, such as Proteus syndrome, might be the result of an autosomal dominant lethal gene that was compatible with survival only in the mosaic state. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Barker et al. (2001) did not identify mutations in the PTEN gene in 8 unrelated patients with classic Proteus syndrome. </p><p>Thiffault et al. (2004) stated that the most plausible suggestion for the genetic basis of Proteus syndrome is the Happle somatic mosaic hypothesis (Happle, 1999), although no somatic mutations in candidate genes had been reported. Because germline mutations in the PTEN gene had been identified in patients diagnosed with Proteus syndrome, Thiffault et al. (2004) screened affected and unaffected tissue from 6 patients with Proteus syndrome by direct sequencing of genomic DNA for germline or somatic mutations in the PTEN or GPC3 (300037) genes. No intraexonic mutations were identified, indicating that neither PTEN nor GPC3 was likely to have a major role in the etiology of Proteus syndrome in this series of cases. </p>
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<p>Using 2 different methods, chimeric and mosaic, Lindhurst et al. (2019) generated Proteus syndrome mouse models that endogenously regulated mosaic expression of the Proteus syndrome variant, E17K. Mice generated by both methods displayed characteristic types of overgrowth seen in human patients with Proteus syndrome, including vascular malformations, cysts, hyperplasia, and stromal expansion, with the chimeric method appearing to be more successful than the mosaic method. Identification of E17K-positive cells and increased Akt signaling in lesional tissue of chimeric Proteus syndrome mice revealed that the E17K-positive cells likely signaled neighboring E17K-negative cells to proliferate, suggesting that the Proteus syndrome variant drove overgrowth in a non-cell autonomous manner. </p>
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<p>Although Wiedemann et al. (1983) made this syndrome generally known, it had previously been delineated by Cohen and Hayden (1979). The assignment of a name with mnemonic value perhaps accounts for the greater success of Wiedemann than of Cohen in bringing the disorder to general attention. (Also, Cohen and Hayden's report was in a more obscure publication than Wiedemann's.) Cohen (1987, 1988, 1988) believed that Joseph Merrick (the Elephant Man), the famous patient of Sir Frederick Treves, had Proteus syndrome, not neurofibromatosis (162200) as often thought. </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Gorlin (1984); Lezama and Buyse (1984); Mucke et al. (1985)
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<h4>
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Thiffault, I., Schwartz, C. E., Der Kaloustian, V., Foulkes, W. D.
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Wiedemann, H.-R., Burgio, G. R., Aldenhoff, P., Kunze, J., Kaufmann, H. J., Schirg, E.
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<strong>The Proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.</strong>
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Zhou, X.-P., Marsh, D. J., Hampel, H., Mulliken, J. B., Gimm, O., Eng, C.
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<strong>Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.</strong>
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