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<title>
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Entry
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- #228550 - MYOFIBROMATOSIS, INFANTILE, 1; IMF1
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- OMIM
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<span class="h4">#228550</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS228550"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3545&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3809" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=228550[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=2591" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080109" 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/228550" 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:0080109" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</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> 1285183007, 254146000<br />
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<strong>ORPHA:</strong> 2591<br />
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<strong>DO:</strong> 0080109<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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228550
|
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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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MYOFIBROMATOSIS, INFANTILE, 1; IMF1
|
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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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MYOFIBROMATOSIS, JUVENILE<br />
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FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/662?start=-3&limit=10&highlight=662">
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5q32
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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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Myofibromatosis, infantile, 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/228550"> 228550 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PDGFRB
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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/173410"> 173410 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/228550" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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|
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<a href="/phenotypicSeries/PS228550" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
|
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/228550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/228550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Myofibromatosis affecting skin, muscle, bone, and viscera <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806311</a>]</span><br /> -
|
|
Small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806312</a>]</span><br /> -
|
|
Benign soft tissue developmental anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806313</a>]</span><br /> -
|
|
Dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806314</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset at birth or in early childhood<br /> -
|
|
Tumors may show spontaneous regression<br /> -
|
|
Visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin<br /> -
|
|
Solitary disease is more common in males<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
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|
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</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the platelet-derived growth factor receptor, beta, gene (PDGFRB, <a href="/entry/173410#0003">173410.0003</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Infantile myofibromatosis
|
|
- <a href="/phenotypicSeries/PS228550">PS228550</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/662?start=-3&limit=10&highlight=662"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/228550"> Myofibromatosis, infantile, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/228550"> 228550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173410"> PDGFRB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173410"> 173410 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/392?start=-3&limit=10&highlight=392"> 19p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615293"> ?Myofibromatosis, infantile 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615293"> 615293 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600276"> NOTCH3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600276"> 600276 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
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|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
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|
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|
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<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because infantile myofibromatosis-1 (IMF1) is caused by heterozygous mutation in the PDGFRB gene (<a href="/entry/173410">173410</a>) on chromosome 5q32.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
|
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|
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
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<p>Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by <a href="#2" class="mim-tip-reference" title="Arcangeli, F., Calista, D. <strong>Congenital myofibromatosis in two siblings.</strong> Europ. J. Derm. 16: 181-183, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16581573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16581573</a>]" pmid="16581573">Arcangeli and Calista, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16581573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Infantile Myofibromatosis</em></strong></p><p>
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See also IMF2 (<a href="/entry/615293">615293</a>), caused by mutation in the NOTCH3 gene (<a href="/entry/600276">600276</a>).</p>
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<p>Congenital generalized fibromatosis is a rare disorder characterized by multiple fibroblastic tumors involving skin, striated muscles, bones, and viscera. The tumors are present at birth or develop during the first weeks of life. This disorder was described by <a href="#22" class="mim-tip-reference" title="Stout, A. P. <strong>Juvenile fibromatoses.</strong> Cancer 7: 953-978, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13199773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13199773</a>] [<a href="https://doi.org/10.1002/1097-0142(195409)7:5<953::aid-cncr2820070520>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13199773">Stout (1954)</a>, who distinguished it from other forms of juvenile fibromatosis. The radiologic findings are similar to those of Ollier disease (<a href="/entry/166000">166000</a>). Multiple cystic lesions involve the metaphyses. Multiple soft tissue nodules occur (<a href="#20" class="mim-tip-reference" title="Shnitka, T. K., Asp, D. M., Horner, R. H. <strong>Congenital generalized fibromatosis.</strong> Cancer 11: 627-639, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13523573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13523573</a>] [<a href="https://doi.org/10.1002/1097-0142(195805/06)11:3<627::aid-cncr2820110326>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13523573">Shnitka et al., 1958</a>), as in multiple neurofibromatosis (<a href="/entry/162200">162200</a>), but a cutaneous pigmentary anomaly is not a feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13523573+13199773" 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="#11" class="mim-tip-reference" title="Familusi, J. B., Nottidge, V. A., Antia, A. U., Attah, E. B. <strong>Congenital generalized fibromatosis: an African case with gingival hypertrophy and other unusual features.</strong> Am. J. Dis. Child. 130: 1215-1217, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1086595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1086595</a>] [<a href="https://doi.org/10.1001/archpedi.1976.02120120049007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1086595">Familusi et al. (1976)</a> observed gingival hypertrophy and ankylosis of many joints in a Nigerian infant with congenital generalized fibromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1086595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Baer, J. W., Radkowski, M. A. <strong>Congenital multiple fibromatosis: a case report with review of the world literature.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 118: 200-205, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4704028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4704028</a>] [<a href="https://doi.org/10.2214/ajr.118.1.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4704028">Baer and Radkowski (1973)</a> distinguished congenital multiple fibromatosis which carries a better prognosis because viscera are not affected. According to their tabulation of reported cases, <a href="#5" class="mim-tip-reference" title="Bartlett, R. C., Otis, R. D., Laakso, A. O. <strong>Multiple congenital neoplasms of soft tissue.</strong> Cancer 14: 913-920, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687446</a>] [<a href="https://doi.org/10.1002/1097-0142(196109/10)14:5<913::aid-cncr2820140503>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13687446">Bartlett et al. (1961)</a> and <a href="#16" class="mim-tip-reference" title="Kauffman, S. L., Stout, A. P. <strong>Congenital mesenchymal tumors.</strong> Cancer 18: 460-476, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14278043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14278043</a>] [<a href="https://doi.org/10.1002/1097-0142(196504)18:4<460::aid-cncr2820180410>3.0.co;2-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14278043">Kauffman and Stout (1965)</a> reported patients of both categories. <a href="#22" class="mim-tip-reference" title="Stout, A. P. <strong>Juvenile fibromatoses.</strong> Cancer 7: 953-978, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13199773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13199773</a>] [<a href="https://doi.org/10.1002/1097-0142(195409)7:5<953::aid-cncr2820070520>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13199773">Stout (1954)</a> and <a href="#23" class="mim-tip-reference" title="Teng, P., Warden, M. J., Cohn, W. L. <strong>Congenital generalized fibromatosis (renal and skeletal) with complete spontaneous regression.</strong> J. Pediat. 62: 748-753, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13980570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13980570</a>] [<a href="https://doi.org/10.1016/s0022-3476(63)80045-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13980570">Teng et al. (1963)</a> dealt with congenital generalized fibromatosis and <a href="#12" class="mim-tip-reference" title="Heiple, K. G., Perrin, E., Aikawa, M. <strong>Congenital generalized fibromatosis: a case limited to osseous lesions.</strong> J. Bone Joint Surg. Am. 54: 663-669, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5055163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5055163</a>]" pmid="5055163">Heiple et al. (1972)</a> reported on congenital multiple fibromatosis (despite the title of his paper). Some consider the tumors a form of hamartomatosis since they often contain smooth muscle and vascular channels in addition to fibrous tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4704028+13980570+13687446+5055163+13199773+14278043" 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="#9" class="mim-tip-reference" title="Chung, E. B., Enzinger, F. M. <strong>Infantile myofibromatosis.</strong> Cancer 48: 1807-1818, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7284977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7284977</a>] [<a href="https://doi.org/10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7284977">Chung and Enzinger (1981)</a> preferred the term juvenile myofibromatosis because of the presumed myofibroblastic origin of the cells. The prognosis is poor when several internal organs are affected; 80% of such infants are said to die in the first 4 months of life. On the other hand, complete spontaneous regression has been observed (<a href="#23" class="mim-tip-reference" title="Teng, P., Warden, M. J., Cohn, W. L. <strong>Congenital generalized fibromatosis (renal and skeletal) with complete spontaneous regression.</strong> J. Pediat. 62: 748-753, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13980570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13980570</a>] [<a href="https://doi.org/10.1016/s0022-3476(63)80045-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13980570">Teng et al., 1963</a>). These characteristics are reminiscent of those of neuroblastoma (<a href="/entry/256700">256700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7284977+13980570" 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="#25" class="mim-tip-reference" title="Venencie, P. Y., Bigel, P., Desgruelles, C., Lortat-Jacob, S., Dufier, J. L., Saurat, J. H. <strong>Infantile myofibromatosis: report of two cases in one family.</strong> Brit. J. Derm. 117: 255-259, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3651344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3651344</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04125.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3651344">Venencie et al. (1987)</a> described infant brothers with cutaneous and skeletal myofibromas. The cutaneous lesions healed spontaneously and completely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3651344" 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="Castro, D. J., Hoover, L., Lufkin, R. B., Castro, D. J., Fu, T.-S. <strong>Multicentric fibromatosis of familial inheritance.</strong> Arch. Path. Lab. Med. 111: 867-869, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3632306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3632306</a>]" pmid="3632306">Castro et al. (1987)</a> reported a case of multicentric fibromatosis in a 35-year-old woman who had first onset of a cutaneous tumor at age 5 years. Although the parents came from Jewish lineages that had resided in the same city in Morocco for many generations, no consanguinity was known. One aunt and a female cousin had similar subcutaneous tissues, but the sibs, parents, and grandparents were apparently free of tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3632306" 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="#6" class="mim-tip-reference" title="Bracko, M., Cindro, L., Golouh, R. <strong>Familial occurrence of infantile myofibromatosis.</strong> Cancer 69: 1294-1299, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1739928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1739928</a>] [<a href="https://doi.org/10.1002/cncr.2820690537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1739928">Bracko et al. (1992)</a> described 2 brothers with multicentric infantile myofibromatosis. In both, tumors were present at birth; the tumors regressed spontaneously but new lesions developed throughout the follow-up periods of 15 and 8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1739928" 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="Narchi, H. <strong>Four half-siblings with infantile myrofibromatosis (sic): a case for autosomal-recessive inheritance. (Letter)</strong> Clin. Genet. 59: 134-135, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260217</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.590213.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260217">Narchi (2001)</a> described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. A healthy woman, married to her first cousin, had 4 children, 3 of whom (2 sons and 1 daughter) were diagnosed with infantile myofibromatosis, confirmed by histopathologic studies. Some lesions recurred and one of the sibs developed intraorbital and intracranial myofibromas that required surgery. After a divorce, the woman married her previous husband's half brother (from the same father) who was also healthy. Their first 2 children were unaffected, but the third child, who was female, also developed myofibromatosis. The parents themselves denied having neonatal lesions that spontaneously regressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260217" 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="#14" class="mim-tip-reference" title="Ikediobi, N. I., Iyengar, V,, Hwang, L., Collins, W. E., Metry, D. W. <strong>Infantile myofibromatosis: support for autosomal dominant inheritance.</strong> J. Am. Acad. Derm. 49: S148-S150, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12894106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12894106</a>] [<a href="https://doi.org/10.1067/mjd.2003.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12894106">Ikediobi et al. (2003)</a> reported a 3-generation family with infantile myofibromatosis. The proband presented on the first day of life with multiple cutaneous firm, rubbery, flesh-colored nodules on the scalp, lateral aspect of the left thigh, and left side of the back. Histopathology of 1 lesion showed a deep dermal proliferation of spindle cells, with minimal atypia and rare mitotic figures, consistent with the diagnosis of myofibroma. MRI of the chest and abdomen showed 2 small nodules within the right paraspinal muscle; no skeletal or other visceral lesions were evident. By 6 months of age, her skin nodules involuted to firm, subcutaneous depressions. She had no systemic manifestations. Family history revealed that her father, paternal grandfather, and paternal aunt had similar skin nodules at birth that spontaneously resolved without systemic sequelae. The patient's paternal aunt had 4 affected children. One child had skin myofibromas, skeletal myofibromas, and 1 ocular myofibroma that resulted in enucleation of the affected eye. Another child had myofibromas in the peritoneal cavity resulting in intestinal obstruction, multiple operative procedures, and permanent colostomy. The other 2 children had skin-limited disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12894106" 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="de Montpreville, V. T., Zemoura, L., Vaksmann, G., Lecourt-Tierny, G., Planche, C., Dulmet, E. <strong>Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease?</strong> Virchows Arch. 444: 300-303, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024647</a>] [<a href="https://doi.org/10.1007/s00428-003-0938-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024647">De Montpreville et al. (2004)</a> reported an unusual case of infantile myofibromatosis in a 12.5-month-old girl who presented with hemiplegia and was found to have an ischemic cerebral lesion. Echocardiography revealed 2 small 1 to 1.5-cm nodules in the left atrium; both were surgically excised. Histologic examination showed spindle-shaped cells arranged in bundles, rare mitotic figures, and fibrosis, consistent with myofibromatosis. The underlying mitral valvular base was only superficially invaded, and <a href="#10" class="mim-tip-reference" title="de Montpreville, V. T., Zemoura, L., Vaksmann, G., Lecourt-Tierny, G., Planche, C., Dulmet, E. <strong>Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease?</strong> Virchows Arch. 444: 300-303, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024647</a>] [<a href="https://doi.org/10.1007/s00428-003-0938-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024647">de Montpreville et al. (2004)</a> suggested that this child did not have a visceral form of the disorder, but rather that the lesions in the heart represented a subendothelial lesion. The patient had no other obvious skin lesions and no visceral involvement. As a neonate, her father had had congenital fibromatosis of the laryngeal nerve as well as cutaneous nodules, suggesting autosomal dominant inheritance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024647" 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 family reported by <a href="#27" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-McGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al. (2004)</a> in which there were 3 proven instances of male-to-male transmission and 2 other suspected instances, the proband presented at birth with a mass in the superficial soft tissue of the left upper quadrant of the abdominal wall. At 3 weeks of age, an additional mass was noted behind his left knee, while at 6 weeks of age the abdominal wall mass regressed. The family history was notable for a brother and father who had been diagnosed with biopsy-proven infantile myofibromatosis. The proband of the second family reported by <a href="#27" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-McGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al. (2004)</a> was evaluated at 3 years of age for a persistent 'scalp mass' which had presented during infancy. A mass was also present on the shoulder. By the age of 16 years, she had developed a total of 6 soft tissue lesions without complication. Her father and a paternal first cousin with biopsy-proven infantile myofibromatosis, but had a much more complicated clinical course. The father developed both soft tissue and visceral lesions throughout his life, including lesions in his meninges, kidney, and vocal cords, requiring tracheotomy placement. At 9 months of age the proband's first cousin developed an intususseption. Pathology obtained during surgical repair was consistent with multiple myofibromas, which presumably served as a lead point to the intususseption. The proband of another family reported by <a href="#27" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-McGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al. (2004)</a> presented at birth with a large pedunculated mass attached to the right parietooccipital scalp. Cranial imaging and pathologic findings confirmed solitary infantile myofibromatosis. Her brother had previously undergone surgery in infancy for a small thigh mass, also found to be a myofibroma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054839" 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="#8" class="mim-tip-reference" title="Cheung, Y. H., Gayden, T., Campeau, P. M., Leduc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others. <strong>A recurrent PDGFRB mutation causes familial infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 996-1000, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731537[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731537">Cheung et al. (2013)</a> reported 4 unrelated families with autosomal dominant infantile myofibromatosis. One family was of Chinese origin with affected father and 2 children. The father had a solitary myofibroma at an early age that did not require further treatment. The son was diagnosed at age 4 years with multiple myofibromas of the skin, most of which spontaneously regressed. The daughter presented at age 6 months with multiple myofibromas of the skin and visceral myofibroma of the orbit and supranasal region. In a second family, the mother had multiple subcutaneous myofibromas on the head and neck, shoulder, back, and abdominal wall. Her son had onset in the first year of life of multiple lesions on the abdominal wall and left upper gingival border. Affected members of the third family, of French Canadian origin, had had multiple myofibromas of the skin on the face and upper arms that spontaneously regressed at the age of 4 years, similar to their father. The fourth family was of European ancestry and had previously been reported by <a href="#21" class="mim-tip-reference" title="Smith, A., Orchard, D. <strong>Infantile myofibromatosis: two families supporting autosomal dominant inheritance.</strong> Australas. J. Derm. 52: 214-217, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21834820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21834820</a>] [<a href="https://doi.org/10.1111/j.1440-0960.2011.00730.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21834820">Smith and Orchard (2011)</a>. The 2 affected brothers were diagnosed with multiple myofibromas at ages 3 and 11 weeks, respectively, with no clinical evidence of visceral involvement. The mother had swelling in the left side of her neck at 7 months of age, which was found to be fibromatosis and subsequently excised. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23731537+21834820" 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="#13" class="mim-tip-reference" title="Hower, J., Gobel, F. J., Ruttner, J. R., Wurster, K. <strong>Familiaere kongenitale generalisierte Fibromatose bei zwei Halbschwestern.</strong> Schweiz. Med. Wschr. 101: 1381-1385, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5141795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5141795</a>]" pmid="5141795">Hower et al. (1971)</a> described affected half sisters with the same mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5141795" 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="#5" class="mim-tip-reference" title="Bartlett, R. C., Otis, R. D., Laakso, A. O. <strong>Multiple congenital neoplasms of soft tissue.</strong> Cancer 14: 913-920, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687446</a>] [<a href="https://doi.org/10.1002/1097-0142(196109/10)14:5<913::aid-cncr2820140503>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13687446">Bartlett et al. (1961)</a> observed 4 cases among first cousins. The mother of affected brother and sister and the father of another affected brother-sister pair were sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13687446" 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 the report of <a href="#25" class="mim-tip-reference" title="Venencie, P. Y., Bigel, P., Desgruelles, C., Lortat-Jacob, S., Dufier, J. L., Saurat, J. H. <strong>Infantile myofibromatosis: report of two cases in one family.</strong> Brit. J. Derm. 117: 255-259, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3651344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3651344</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04125.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3651344">Venencie et al. (1987)</a> and other reports suggest autosomal recessive inheritance, such cannot explain the affected half sisters reported by <a href="#13" class="mim-tip-reference" title="Hower, J., Gobel, F. J., Ruttner, J. R., Wurster, K. <strong>Familiaere kongenitale generalisierte Fibromatose bei zwei Halbschwestern.</strong> Schweiz. Med. Wschr. 101: 1381-1385, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5141795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5141795</a>]" pmid="5141795">Hower et al. (1971)</a> and the cases of this disorder in a female infant and her father reported by <a href="#15" class="mim-tip-reference" title="Jennings, T. A., Duray, P. H., Collins, F. S., Sabetta, J., Enzinger, F. M. <strong>Infantile myofibromatosis: evidence for an autosomal dominant disorder.</strong> Am. J. Surg. Path. 8: 529-538, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6742314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6742314</a>]" pmid="6742314">Jennings et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6742314+5141795+3651344" 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="#6" class="mim-tip-reference" title="Bracko, M., Cindro, L., Golouh, R. <strong>Familial occurrence of infantile myofibromatosis.</strong> Cancer 69: 1294-1299, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1739928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1739928</a>] [<a href="https://doi.org/10.1002/cncr.2820690537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1739928">Bracko et al. (1992)</a> reviewed families with this disorder in more than one member. The occurrence of the disorder in 8 sets of sibs, with consanguinity in 2, favored autosomal recessive inheritance; as noted previously, however, the occurrence in half sisters and in successive generations favored autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1739928" 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="Narchi, H. <strong>Four half-siblings with infantile myrofibromatosis (sic): a case for autosomal-recessive inheritance. (Letter)</strong> Clin. Genet. 59: 134-135, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260217</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.590213.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260217">Narchi (2001)</a> described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. From a review of the literature, <a href="#19" class="mim-tip-reference" title="Narchi, H. <strong>Four half-siblings with infantile myrofibromatosis (sic): a case for autosomal-recessive inheritance. (Letter)</strong> Clin. Genet. 59: 134-135, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260217</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.590213.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260217">Narchi (2001)</a> concluded that autosomal recessive inheritance is most likely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The transmission pattern of infantile myofibromatosis in the family reported by <a href="#14" class="mim-tip-reference" title="Ikediobi, N. I., Iyengar, V,, Hwang, L., Collins, W. E., Metry, D. W. <strong>Infantile myofibromatosis: support for autosomal dominant inheritance.</strong> J. Am. Acad. Derm. 49: S148-S150, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12894106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12894106</a>] [<a href="https://doi.org/10.1067/mjd.2003.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12894106">Ikediobi et al. (2003)</a> was consistent with autosomal dominant inheritance with variable penetrance, since the severity of the disorder differed within the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12894106" 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="#27" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-McGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al. (2004)</a> presented 3 families with infantile myofibromatosis inherited in an autosomal dominant manner. In one family, there were 3 proven instances of male-to-male transmission and 2 other suspected instances. <a href="#27" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-McGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al. (2004)</a> were prompted to reassess reported pedigrees that had suggested autosomal recessive inheritance. They pointed out that most nodules tend to regress spontaneously, making family history difficult to obtain and/or confirm. They suggested that all infantile familial myofibromatosis may be autosomal dominant or, alternatively, there may be genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054839" 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="Arcangeli, F., Calista, D. <strong>Congenital myofibromatosis in two siblings.</strong> Europ. J. Derm. 16: 181-183, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16581573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16581573</a>]" pmid="16581573">Arcangeli and Calista (2006)</a> reported a brother and sister, born to nonconsanguineous parents, with infantile myofibromatosis. Their review of the international literature showed that although most of the reported cases were sporadic, about 15 families, including theirs, had more than one affected family member. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16581573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The diagnosis of infantile myofibromatosis is based on histopathologic grounds. Well-circumscribed nodules, formed by a central hemagiopericytoma-like vascular proliferation, are surrounded by sweeping fascicles of fibroblastic and myofibroblastic cells (summary by <a href="#2" class="mim-tip-reference" title="Arcangeli, F., Calista, D. <strong>Congenital myofibromatosis in two siblings.</strong> Europ. J. Derm. 16: 181-183, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16581573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16581573</a>]" pmid="16581573">Arcangeli and Calista, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16581573" 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="#26" class="mim-tip-reference" title="Weller, J. M., Keil, V. C., Gielen, G. H., Herrlinger, U., Schafer, N. <strong>PDGRFB mutation-associated myofibromatosis: response to targeted therapy with imatinib.</strong> Am. J. Med. Genet. 179A: 1895-1897, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31291054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31291054</a>] [<a href="https://doi.org/10.1002/ajmg.a.61283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31291054">Weller et al. (2019)</a> treated a 36-year-old man with IMF due to a PDGFRB c.1681C-T mutation with imatinib, which resulted in improvement of multiple lesions after 12 months of therapy. The patient had a history of multiple recurring lesions, including cutaneous, pulmonary, cranial, intraspinal, and paraspinal lesions. He was treated with multiple agents including vincristine, actinomycin D, ifosfamide, doxorubicin, carboplatin and etoposide, as well as with radiotherapy and surgical intervention, with some improvement of lesions. However, at age 36, when a vertebral tumor caused neuroforaminal stenosis of the C6 cervical root, he was started on the tyrosine kinase inhibitor imatinib at 400 mg daily. Due to side effects, the imatinib dose was decreased to 300 mg daily after 1 month, and then to 200 mg daily after 4 months. MRIs after 15 weeks, 9 months and 12 months of treatment showed sustained regression of most of the spinal and paraspinal lesions, and complete recovery of the C6 syndrome. An osseous frontal lesion slowed a less pronounced response, with a 30% volume decrease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31291054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 unrelated families with infantile myofibromatosis, <a href="#8" class="mim-tip-reference" title="Cheung, Y. H., Gayden, T., Campeau, P. M., Leduc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others. <strong>A recurrent PDGFRB mutation causes familial infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 996-1000, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731537[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731537">Cheung et al. (2013)</a> identified the same heterozygous missense mutation in the PDGFRB (R561C; <a href="/entry/173410#0003">173410.0003</a>). The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. In addition, tumor tissue from 1 of the patients who carried a germline R561C mutation harbored a somatic PDGFRB mutation (N666K; <a href="/entry/173410#0004">173410.0004</a>) that was predicted to be damaging. Structural modeling indicated that the R561C mutation was located within the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. Modeling also predicted that the N666K mutation would favor an active kinase formation. In vitro functional studies were not performed. Sequencing of the PDGFRB gene in 5 individuals with nonfamilial IMF did not identify any causative mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23731537" 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="Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C. M., Camacho-Vanegas, O., Camacho, S. C., Guo, Y., Zand, D. J., Bernstein, A. M., Masur, S. K., Kim, C. E., Otieno, F. G., and 16 others. <strong>Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 1001-1007, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731542">Martignetti et al. (2013)</a> identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. Another family with the disorder carried a different heterozygous mutation in the PDGFRB gene (P660T; <a href="/entry/173410#0004">173410.0004</a>). Some of the families had previously been reported (<a href="#15" class="mim-tip-reference" title="Jennings, T. A., Duray, P. H., Collins, F. S., Sabetta, J., Enzinger, F. M. <strong>Infantile myofibromatosis: evidence for an autosomal dominant disorder.</strong> Am. J. Surg. Path. 8: 529-538, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6742314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6742314</a>]" pmid="6742314">Jennings et al., 1984</a>; <a href="#14" class="mim-tip-reference" title="Ikediobi, N. I., Iyengar, V,, Hwang, L., Collins, W. E., Metry, D. W. <strong>Infantile myofibromatosis: support for autosomal dominant inheritance.</strong> J. Am. Acad. Derm. 49: S148-S150, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12894106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12894106</a>] [<a href="https://doi.org/10.1067/mjd.2003.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12894106">Ikediobi et al., 2003</a>; <a href="#27" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-McGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al., 2004</a>; <a href="#10" class="mim-tip-reference" title="de Montpreville, V. T., Zemoura, L., Vaksmann, G., Lecourt-Tierny, G., Planche, C., Dulmet, E. <strong>Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease?</strong> Virchows Arch. 444: 300-303, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024647</a>] [<a href="https://doi.org/10.1007/s00428-003-0938-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024647">de Montpreville et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23731542+6742314+15054839+15024647+12894106" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the NDRG4 gene and infantile myofibromatosis, see <a href="/entry/614463#0001">614463.0001</a>.</p>
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<a href="#Altemani1985" class="mim-tip-reference" title="Altemani, A. M., Amstalden, E. I., Filho, J. M. <strong>Congenital generalized fibromatosis causing spinal cord compression.</strong> Hum. Path. 16: 1063-1065, 1985.">Altemani et al. (1985)</a>; <a href="#Baird1976" class="mim-tip-reference" title="Baird, P. A., Worth, A. J. <strong>Congenital generalized fibromatosis: an autosomal recessive condition?</strong> Clin. Genet. 9: 488-494, 1976.">Baird and Worth (1976)</a>; <a href="#Modi1982" class="mim-tip-reference" title="Modi, N. <strong>Congenital generalised fibromatosis.</strong> Arch. Dis. Child. 57: 881-882, 1982.">Modi (1982)</a>; <a href="#Touraine1945" class="mim-tip-reference" title="Touraine, A., Ruel, H. <strong>La polyfibromatose hereditaire.</strong> Ann. Derm. Syph. 29: 1-5, 1945.">Touraine
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and Ruel (1945)</a>
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Altemani, A. M., Amstalden, E. I., Filho, J. M.
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<strong>Congenital generalized fibromatosis causing spinal cord compression.</strong>
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Hum. Path. 16: 1063-1065, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4043956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4043956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4043956" 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/s0046-8177(85)80285-9" target="_blank">Full Text</a>]
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Baer, J. W., Radkowski, M. A.
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Am. J. Roentgen. Radium Ther. Nucl. Med. 118: 200-205, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4704028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4704028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4704028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Baird, P. A., Worth, A. J.
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<strong>Congenital generalized fibromatosis: an autosomal recessive condition?</strong>
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Clin. Genet. 9: 488-494, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1269171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1269171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1269171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01602.x" target="_blank">Full Text</a>]
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Bartlett, R. C., Otis, R. D., Laakso, A. O.
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<strong>Multiple congenital neoplasms of soft tissue.</strong>
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Cancer 14: 913-920, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13687446" 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/10.1002/1097-0142(196109/10)14:5<913::aid-cncr2820140503>3.0.co;2-g" target="_blank">Full Text</a>]
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Bracko, M., Cindro, L., Golouh, R.
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<strong>Familial occurrence of infantile myofibromatosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1739928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1739928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1739928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Castro, D. J., Hoover, L., Lufkin, R. B., Castro, D. J., Fu, T.-S.
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<strong>Multicentric fibromatosis of familial inheritance.</strong>
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Arch. Path. Lab. Med. 111: 867-869, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3632306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3632306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3632306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cheung, Y. H., Gayden, T., Campeau, P. M., Leduc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others.
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<strong>A recurrent PDGFRB mutation causes familial infantile myofibromatosis.</strong>
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Am. J. Hum. Genet. 92: 996-1000, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731537[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23731537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.04.026" target="_blank">Full Text</a>]
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Chung, E. B., Enzinger, F. M.
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<strong>Infantile myofibromatosis.</strong>
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Cancer 48: 1807-1818, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7284977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7284977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7284977" 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/10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g" target="_blank">Full Text</a>]
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de Montpreville, V. T., Zemoura, L., Vaksmann, G., Lecourt-Tierny, G., Planche, C., Dulmet, E.
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<strong>Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease?</strong>
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Virchows Arch. 444: 300-303, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024647" 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/s00428-003-0938-4" target="_blank">Full Text</a>]
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Familusi, J. B., Nottidge, V. A., Antia, A. U., Attah, E. B.
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[<a href="https://doi.org/10.1001/archpedi.1976.02120120049007" target="_blank">Full Text</a>]
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<strong>Congenital generalized fibromatosis: a case limited to osseous lesions.</strong>
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[<a href="https://doi.org/10.1067/mjd.2003.333" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1097-0142(196504)18:4<460::aid-cncr2820180410>3.0.co;2-b" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C. M., Camacho-Vanegas, O., Camacho, S. C., Guo, Y., Zand, D. J., Bernstein, A. M., Masur, S. K., Kim, C. E., Otieno, F. G., and 16 others.
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[<a href="https://doi.org/10.1016/j.ajhg.2013.04.024" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.57.11.881" target="_blank">Full Text</a>]
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<strong>Four half-siblings with infantile myrofibromatosis (sic): a case for autosomal-recessive inheritance. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260217" 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.1399-0004.2001.590213.x" target="_blank">Full Text</a>]
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<a id="Shnitka1958" class="mim-anchor"></a>
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<strong>Congenital generalized fibromatosis.</strong>
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[<a href="https://doi.org/10.1002/1097-0142(195805/06)11:3<627::aid-cncr2820110326>3.0.co;2-k" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1440-0960.2011.00730.x" target="_blank">Full Text</a>]
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<strong>Juvenile fibromatoses.</strong>
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[<a href="https://doi.org/10.1002/1097-0142(195409)7:5<953::aid-cncr2820070520>3.0.co;2-w" target="_blank">Full Text</a>]
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<a id="Teng1963" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0022-3476(63)80045-1" target="_blank">Full Text</a>]
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<a id="Touraine1945" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04125.x" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Weller2019" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/ajmg.a.61283" target="_blank">Full Text</a>]
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<a id="Zand2004" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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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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Hilary J. Vernon - updated : 12/17/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/27/2013<br>Victor A. McKusick - updated : 4/14/2004<br>Victor A. McKusick - updated : 4/5/2001
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</span>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 12/17/2020
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carol : 04/26/2017<br>mcolton : 03/04/2015<br>carol : 12/30/2014<br>carol : 12/3/2014<br>ckniffin : 12/1/2014<br>carol : 7/8/2013<br>carol : 7/8/2013<br>tpirozzi : 7/8/2013<br>tpirozzi : 7/8/2013<br>tpirozzi : 7/5/2013<br>ckniffin : 6/27/2013<br>carol : 5/14/2012<br>terry : 1/13/2011<br>terry : 6/2/2004<br>alopez : 4/16/2004<br>alopez : 4/16/2004<br>terry : 4/14/2004<br>cwells : 4/12/2001<br>cwells : 4/6/2001<br>terry : 4/5/2001<br>terry : 6/11/1999<br>terry : 5/2/1994<br>carol : 6/22/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<span class="mim-font">
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<strong>#</strong> 228550
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MYOFIBROMATOSIS, INFANTILE, 1; IMF1
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<em>Alternative titles; symbols</em>
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MYOFIBROMATOSIS, JUVENILE<br />
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FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
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<strong>SNOMEDCT:</strong> 1285183007, 254146000;
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<strong>ORPHA:</strong> 2591;
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<strong>DO:</strong> 0080109;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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5q32
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Myofibromatosis, infantile, 1
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228550
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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PDGFRB
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173410
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because infantile myofibromatosis-1 (IMF1) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32.</p>
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<strong>Description</strong>
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<p>Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). </p><p><strong><em>Genetic Heterogeneity of Infantile Myofibromatosis</em></strong></p><p>
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See also IMF2 (615293), caused by mutation in the NOTCH3 gene (600276).</p>
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<strong>Clinical Features</strong>
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<p>Congenital generalized fibromatosis is a rare disorder characterized by multiple fibroblastic tumors involving skin, striated muscles, bones, and viscera. The tumors are present at birth or develop during the first weeks of life. This disorder was described by Stout (1954), who distinguished it from other forms of juvenile fibromatosis. The radiologic findings are similar to those of Ollier disease (166000). Multiple cystic lesions involve the metaphyses. Multiple soft tissue nodules occur (Shnitka et al., 1958), as in multiple neurofibromatosis (162200), but a cutaneous pigmentary anomaly is not a feature. </p><p>Familusi et al. (1976) observed gingival hypertrophy and ankylosis of many joints in a Nigerian infant with congenital generalized fibromatosis. </p><p>Baer and Radkowski (1973) distinguished congenital multiple fibromatosis which carries a better prognosis because viscera are not affected. According to their tabulation of reported cases, Bartlett et al. (1961) and Kauffman and Stout (1965) reported patients of both categories. Stout (1954) and Teng et al. (1963) dealt with congenital generalized fibromatosis and Heiple et al. (1972) reported on congenital multiple fibromatosis (despite the title of his paper). Some consider the tumors a form of hamartomatosis since they often contain smooth muscle and vascular channels in addition to fibrous tissue. </p><p>Chung and Enzinger (1981) preferred the term juvenile myofibromatosis because of the presumed myofibroblastic origin of the cells. The prognosis is poor when several internal organs are affected; 80% of such infants are said to die in the first 4 months of life. On the other hand, complete spontaneous regression has been observed (Teng et al., 1963). These characteristics are reminiscent of those of neuroblastoma (256700). </p><p>Venencie et al. (1987) described infant brothers with cutaneous and skeletal myofibromas. The cutaneous lesions healed spontaneously and completely. </p><p>Castro et al. (1987) reported a case of multicentric fibromatosis in a 35-year-old woman who had first onset of a cutaneous tumor at age 5 years. Although the parents came from Jewish lineages that had resided in the same city in Morocco for many generations, no consanguinity was known. One aunt and a female cousin had similar subcutaneous tissues, but the sibs, parents, and grandparents were apparently free of tumors. </p><p>Bracko et al. (1992) described 2 brothers with multicentric infantile myofibromatosis. In both, tumors were present at birth; the tumors regressed spontaneously but new lesions developed throughout the follow-up periods of 15 and 8 years. </p><p>Narchi (2001) described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. A healthy woman, married to her first cousin, had 4 children, 3 of whom (2 sons and 1 daughter) were diagnosed with infantile myofibromatosis, confirmed by histopathologic studies. Some lesions recurred and one of the sibs developed intraorbital and intracranial myofibromas that required surgery. After a divorce, the woman married her previous husband's half brother (from the same father) who was also healthy. Their first 2 children were unaffected, but the third child, who was female, also developed myofibromatosis. The parents themselves denied having neonatal lesions that spontaneously regressed. </p><p>Ikediobi et al. (2003) reported a 3-generation family with infantile myofibromatosis. The proband presented on the first day of life with multiple cutaneous firm, rubbery, flesh-colored nodules on the scalp, lateral aspect of the left thigh, and left side of the back. Histopathology of 1 lesion showed a deep dermal proliferation of spindle cells, with minimal atypia and rare mitotic figures, consistent with the diagnosis of myofibroma. MRI of the chest and abdomen showed 2 small nodules within the right paraspinal muscle; no skeletal or other visceral lesions were evident. By 6 months of age, her skin nodules involuted to firm, subcutaneous depressions. She had no systemic manifestations. Family history revealed that her father, paternal grandfather, and paternal aunt had similar skin nodules at birth that spontaneously resolved without systemic sequelae. The patient's paternal aunt had 4 affected children. One child had skin myofibromas, skeletal myofibromas, and 1 ocular myofibroma that resulted in enucleation of the affected eye. Another child had myofibromas in the peritoneal cavity resulting in intestinal obstruction, multiple operative procedures, and permanent colostomy. The other 2 children had skin-limited disease. </p><p>De Montpreville et al. (2004) reported an unusual case of infantile myofibromatosis in a 12.5-month-old girl who presented with hemiplegia and was found to have an ischemic cerebral lesion. Echocardiography revealed 2 small 1 to 1.5-cm nodules in the left atrium; both were surgically excised. Histologic examination showed spindle-shaped cells arranged in bundles, rare mitotic figures, and fibrosis, consistent with myofibromatosis. The underlying mitral valvular base was only superficially invaded, and de Montpreville et al. (2004) suggested that this child did not have a visceral form of the disorder, but rather that the lesions in the heart represented a subendothelial lesion. The patient had no other obvious skin lesions and no visceral involvement. As a neonate, her father had had congenital fibromatosis of the laryngeal nerve as well as cutaneous nodules, suggesting autosomal dominant inheritance of the disorder. </p><p>In a family reported by Zand et al. (2004) in which there were 3 proven instances of male-to-male transmission and 2 other suspected instances, the proband presented at birth with a mass in the superficial soft tissue of the left upper quadrant of the abdominal wall. At 3 weeks of age, an additional mass was noted behind his left knee, while at 6 weeks of age the abdominal wall mass regressed. The family history was notable for a brother and father who had been diagnosed with biopsy-proven infantile myofibromatosis. The proband of the second family reported by Zand et al. (2004) was evaluated at 3 years of age for a persistent 'scalp mass' which had presented during infancy. A mass was also present on the shoulder. By the age of 16 years, she had developed a total of 6 soft tissue lesions without complication. Her father and a paternal first cousin with biopsy-proven infantile myofibromatosis, but had a much more complicated clinical course. The father developed both soft tissue and visceral lesions throughout his life, including lesions in his meninges, kidney, and vocal cords, requiring tracheotomy placement. At 9 months of age the proband's first cousin developed an intususseption. Pathology obtained during surgical repair was consistent with multiple myofibromas, which presumably served as a lead point to the intususseption. The proband of another family reported by Zand et al. (2004) presented at birth with a large pedunculated mass attached to the right parietooccipital scalp. Cranial imaging and pathologic findings confirmed solitary infantile myofibromatosis. Her brother had previously undergone surgery in infancy for a small thigh mass, also found to be a myofibroma. </p><p>Cheung et al. (2013) reported 4 unrelated families with autosomal dominant infantile myofibromatosis. One family was of Chinese origin with affected father and 2 children. The father had a solitary myofibroma at an early age that did not require further treatment. The son was diagnosed at age 4 years with multiple myofibromas of the skin, most of which spontaneously regressed. The daughter presented at age 6 months with multiple myofibromas of the skin and visceral myofibroma of the orbit and supranasal region. In a second family, the mother had multiple subcutaneous myofibromas on the head and neck, shoulder, back, and abdominal wall. Her son had onset in the first year of life of multiple lesions on the abdominal wall and left upper gingival border. Affected members of the third family, of French Canadian origin, had had multiple myofibromas of the skin on the face and upper arms that spontaneously regressed at the age of 4 years, similar to their father. The fourth family was of European ancestry and had previously been reported by Smith and Orchard (2011). The 2 affected brothers were diagnosed with multiple myofibromas at ages 3 and 11 weeks, respectively, with no clinical evidence of visceral involvement. The mother had swelling in the left side of her neck at 7 months of age, which was found to be fibromatosis and subsequently excised. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<p>Hower et al. (1971) described affected half sisters with the same mother. </p><p>Bartlett et al. (1961) observed 4 cases among first cousins. The mother of affected brother and sister and the father of another affected brother-sister pair were sibs. </p><p>Although the report of Venencie et al. (1987) and other reports suggest autosomal recessive inheritance, such cannot explain the affected half sisters reported by Hower et al. (1971) and the cases of this disorder in a female infant and her father reported by Jennings et al. (1984). </p><p>Bracko et al. (1992) reviewed families with this disorder in more than one member. The occurrence of the disorder in 8 sets of sibs, with consanguinity in 2, favored autosomal recessive inheritance; as noted previously, however, the occurrence in half sisters and in successive generations favored autosomal dominant inheritance. </p><p>Narchi (2001) described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. From a review of the literature, Narchi (2001) concluded that autosomal recessive inheritance is most likely. </p><p>The transmission pattern of infantile myofibromatosis in the family reported by Ikediobi et al. (2003) was consistent with autosomal dominant inheritance with variable penetrance, since the severity of the disorder differed within the family. </p><p>Zand et al. (2004) presented 3 families with infantile myofibromatosis inherited in an autosomal dominant manner. In one family, there were 3 proven instances of male-to-male transmission and 2 other suspected instances. Zand et al. (2004) were prompted to reassess reported pedigrees that had suggested autosomal recessive inheritance. They pointed out that most nodules tend to regress spontaneously, making family history difficult to obtain and/or confirm. They suggested that all infantile familial myofibromatosis may be autosomal dominant or, alternatively, there may be genetic heterogeneity. </p><p>Arcangeli and Calista (2006) reported a brother and sister, born to nonconsanguineous parents, with infantile myofibromatosis. Their review of the international literature showed that although most of the reported cases were sporadic, about 15 families, including theirs, had more than one affected family member. </p>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p>The diagnosis of infantile myofibromatosis is based on histopathologic grounds. Well-circumscribed nodules, formed by a central hemagiopericytoma-like vascular proliferation, are surrounded by sweeping fascicles of fibroblastic and myofibroblastic cells (summary by Arcangeli and Calista, 2006). </p>
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<strong>Clinical Management</strong>
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<p>Weller et al. (2019) treated a 36-year-old man with IMF due to a PDGFRB c.1681C-T mutation with imatinib, which resulted in improvement of multiple lesions after 12 months of therapy. The patient had a history of multiple recurring lesions, including cutaneous, pulmonary, cranial, intraspinal, and paraspinal lesions. He was treated with multiple agents including vincristine, actinomycin D, ifosfamide, doxorubicin, carboplatin and etoposide, as well as with radiotherapy and surgical intervention, with some improvement of lesions. However, at age 36, when a vertebral tumor caused neuroforaminal stenosis of the C6 cervical root, he was started on the tyrosine kinase inhibitor imatinib at 400 mg daily. Due to side effects, the imatinib dose was decreased to 300 mg daily after 1 month, and then to 200 mg daily after 4 months. MRIs after 15 weeks, 9 months and 12 months of treatment showed sustained regression of most of the spinal and paraspinal lesions, and complete recovery of the C6 syndrome. An osseous frontal lesion slowed a less pronounced response, with a 30% volume decrease. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 4 unrelated families with infantile myofibromatosis, Cheung et al. (2013) identified the same heterozygous missense mutation in the PDGFRB (R561C; 173410.0003). The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. In addition, tumor tissue from 1 of the patients who carried a germline R561C mutation harbored a somatic PDGFRB mutation (N666K; 173410.0004) that was predicted to be damaging. Structural modeling indicated that the R561C mutation was located within the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. Modeling also predicted that the N666K mutation would favor an active kinase formation. In vitro functional studies were not performed. Sequencing of the PDGFRB gene in 5 individuals with nonfamilial IMF did not identify any causative mutations. </p><p>Martignetti et al. (2013) identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. Another family with the disorder carried a different heterozygous mutation in the PDGFRB gene (P660T; 173410.0004). Some of the families had previously been reported (Jennings et al., 1984; Ikediobi et al., 2003; Zand et al., 2004; de Montpreville et al., 2004). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the NDRG4 gene and infantile myofibromatosis, see 614463.0001.</p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Altemani et al. (1985); Baird and Worth (1976); Modi (1982); Touraine
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and Ruel (1945)
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Hilary J. Vernon - updated : 12/17/2020<br>Cassandra L. Kniffin - updated : 6/27/2013<br>Victor A. McKusick - updated : 4/14/2004<br>Victor A. McKusick - updated : 4/5/2001
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carol : 12/17/2020<br>carol : 04/26/2017<br>mcolton : 03/04/2015<br>carol : 12/30/2014<br>carol : 12/3/2014<br>ckniffin : 12/1/2014<br>carol : 7/8/2013<br>carol : 7/8/2013<br>tpirozzi : 7/8/2013<br>tpirozzi : 7/8/2013<br>tpirozzi : 7/5/2013<br>ckniffin : 6/27/2013<br>carol : 5/14/2012<br>terry : 1/13/2011<br>terry : 6/2/2004<br>alopez : 4/16/2004<br>alopez : 4/16/2004<br>terry : 4/14/2004<br>cwells : 4/12/2001<br>cwells : 4/6/2001<br>terry : 4/5/2001<br>terry : 6/11/1999<br>terry : 5/2/1994<br>carol : 6/22/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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