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Entry
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- #228600 - HYALINE FIBROMATOSIS SYNDROME; HFS
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- OMIM
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<p>
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<span class="h4">#228600</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/228600"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=HYALINE FIBROMATOSIS SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1959&Typ=Pat" title="Juvenile hyaline fibromatosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Juvenile hyaline fibromato… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2069&Typ=Pat" title="Infantile systemic hyalinosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Infantile systemic hyalino… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1525/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/hyaline-fibromatosis-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=228600[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2028" title="Juvenile hyaline fibromatosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Juvenile hyaline fibromato…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2176" title="Infantile systemic hyalinosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Infantile systemic hyalino…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/105f41d0-58af-4562-890f-44d761a6a726/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111669" 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/228600" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:228600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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<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> 1197494003<br />
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<strong>ORPHA:</strong> 2028, 2176<br />
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<strong>DO:</strong> 0111669<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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228600
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</span>
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</span>
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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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HYALINE FIBROMATOSIS SYNDROME; HFS
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</span>
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</h3>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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HYALINOSIS, SYSTEMIC
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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>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
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">
|
|
<a href="/geneMap/4/356?start=-3&limit=10&highlight=356">
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4q21.21
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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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Hyaline fibromatosis syndrome
|
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|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/228600"> 228600 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
ANTXR2
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608041"> 608041 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
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|
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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 ">
|
|
<a href="/clinicalSynopsis/228600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
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|
|
|
|
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/228600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/228600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gingival hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441787004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441787004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017567&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017567</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Gingival_Overgrowth-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Gingival fibromatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58569000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58569000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K06.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K06.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000169" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000169</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000169" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000169</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diarrhea (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Joint contractures, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279322</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005876</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span><br /> -
|
|
Osteolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203522001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30425001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30425001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M89.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M89.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M89.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M89.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721411</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002797" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002797</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002797" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002797</a>]</span><br /> -
|
|
Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br /> -
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Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br />
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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<span class="h5 mim-font">
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- Painful, fleshy papules or nodules (hands, scalp, ears, perinasal area) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856754</a>]</span><br /> -
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Subcutaneous tumors, recurring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856755</a>]</span><br /> -
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Hyaline deposition in dermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856756</a>]</span><br /> -
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Proliferation of spindle cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550350</a>]</span><br />
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<strong> NEUROLOGIC </strong>
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<div style="margin-left: 2em;">
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- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br />
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<span class="h5 mim-font">
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<strong> IMMUNOLOGY </strong>
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- Recurrent infections (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239998</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Onset at birth or early in childhood<br /> -
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br />
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</span>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the anthrax toxin receptor 2 gene (ANTXR2, <a href="/entry/608041#0001">608041.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hyaline fibromatosis syndrome (HFS) is caused by homozygous or compound heterozygous mutation in the gene encoding capillary morphogenesis protein-2 (CMG2, or ANTXR2; <a href="/entry/608041">608041</a>) on chromosome 4q21.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<p>Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by <a href="#4" class="mim-tip-reference" title="Denadai, R., Raposo-Amaral, C. E., Bertola, D., Kim, C., Alonso, N., Hart, T., Han, S., Stelini, R. F., Buzzo, C. L., Raposo-Amaral, C. A., Hart, P. S. <strong>Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.</strong> Am. J. Med. Genet. 158A: 732-742, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22383261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22383261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22383261[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/10.1002/ajmg.a.35228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22383261">Denadai et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22383261" 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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<br />
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p><a href="#19" class="mim-tip-reference" title="Puretic, S., Puretic, B., Fiser-Herman, M., Adamcic, M. <strong>A unique form of mesenchymal dysplasia.</strong> Brit. J. Derm. 74: 8-19, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14489244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14489244</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1962.tb13905.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14489244">Puretic et al. (1962)</a> described what they considered to be a novel connective tissue disorder. In addition to the proband, a brother and sister were probably affected, having died in infancy with painful flexural contractures of the elbows, shoulder joints and knees, which developed at about 3 months of age. The proband also showed deformity of the face and skull, stunted growth, osteolysis of terminal phalanges, multiple large subcutaneous nodes, some calcified, dysseborrheic, sclerodermiform and atrophic changes of the skin, recurrent suppurative infections of the skin, eyes, nose and ears, and gingival fibromatosis. <a href="#12" class="mim-tip-reference" title="Ishikawa, H., Hori, Y. <strong>Systematisierte Hyalinose in Zusammenhang mit Epidermolysis bullosa polydystrophica und hyalinosis cutis et mucosae.</strong> Arch. Klin. Exp. Derm. 218: 30-51, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14106976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14106976</a>]" pmid="14106976">Ishikawa and Hori (1963)</a> described a 2.5-year-old Japanese infant whose sib had died at 8 months, probably of the same condition. 'Systemic hyalinosis' was suggested as a designation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14106976+14489244" 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="Kitano, Y., Horiki, M., Aoki, T., Sagami, S. <strong>Two cases of juvenile hyalin fibromatosis: some histological, electron microscopic, and tissue culture observations.</strong> Arch. Derm. 106: 877-883, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4118157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4118157</a>]" pmid="4118157">Kitano et al. (1972)</a> reported the disorder in 2 sibs, and observed that cells from affected areas contained a metachromatic substance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4118157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Kitano, Y. <strong>Juvenile hyalin fibromatosis.</strong> Arch. Derm. 112: 86-88, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/55105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">55105</a>]" pmid="55105">Kitano (1976)</a> reported an affected boy who was born of consanguineous parents. He had large tumors on the scalp and whitish nodules on the nape and sides of the neck. Hypertrophic gingivae and tumors at both commissures of the lips were illustrated. Histopathologic studies showed that the tumor cells were embedded in an amorphous eosinophilic ground substance. X-ray films showed numerous osteolytic and osteoclastic lesions of the skeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=55105" 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="#1" class="mim-tip-reference" title="Aldred, M. J., Crawford, P. J. M. <strong>Juvenile hyaline fibromatosis.</strong> Oral Surg. Oral Med. Oral Path. 63: 71-77, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2433666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2433666</a>] [<a href="https://doi.org/10.1016/0030-4220(87)90343-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2433666">Aldred and Crawford (1987)</a> gave a comprehensive review of 23 cases of juvenile hyaline fibromatosis from 17 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2433666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Landing, B. H., Nadorra, R. <strong>Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.</strong> Pediat. Path. 6: 55-79, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2434938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2434938</a>] [<a href="https://doi.org/10.3109/15513818609025925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2434938">Landing and Nadorra (1986)</a> described a condition, which they called infantile systemic hyalinosis, in 4 female Mexican-American infants, including 2 sibs. The main features were early thickening and focal nodularity of the skin leading to reduced movement and joint contractures, gum hypertrophy, and osteoporosis. The infants failed to thrive and had diarrhea and recurrent infections. All had onset in the first week of life and died before age 20 months. Pathologic examination showed widespread deposits of hyaline material in skin, skeletal muscle, gastrointestinal tract, endocrine glands, and other locations. The condition was probably first described by <a href="#18" class="mim-tip-reference" title="Nezelof, C., Letourneux-Toromanoff, B., Griscelli, C., Girot, R., Saudubray, J.-M., Mozziconacci, P. <strong>La fibromatose disseminee douloureuse (hyalinose systemique): une nouvelle dysplasie hereditaire du collagene.</strong> Arch. Franc. Pediat. 35: 1063-1074, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/86330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">86330</a>]" pmid="86330">Nezelof et al. (1978)</a>. <a href="#16" class="mim-tip-reference" title="Landing, B. H., Nadorra, R. <strong>Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.</strong> Pediat. Path. 6: 55-79, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2434938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2434938</a>] [<a href="https://doi.org/10.3109/15513818609025925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2434938">Landing and Nadorra (1986)</a> suggested that this infantile systemic disorder was distinct from juvenile systemic hyalinosis, which they considered to be the same as juvenile hyaline fibromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=86330+2434938" 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="#1" class="mim-tip-reference" title="Aldred, M. J., Crawford, P. J. M. <strong>Juvenile hyaline fibromatosis.</strong> Oral Surg. Oral Med. Oral Path. 63: 71-77, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2433666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2433666</a>] [<a href="https://doi.org/10.1016/0030-4220(87)90343-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2433666">Aldred and Crawford (1987)</a> gave a comprehensive review of 23 cases from 17 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2433666" 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="Gorlin, R. J., Cohen, M. M., Jr., Levin, L. S. <strong>Syndromes of the Head and Neck. (3rd ed.)</strong> New York: Oxford Univ. Press (pub.) 1990. Pp. 849-850."None>Gorlin et al. (1990)</a> emphasized the occurrence of flexion contractures and gingival fibromatosis.</p><p><a href="#2" class="mim-tip-reference" title="Bedford, C. D., Sills, J. A., Sommelet-Olive, D., Boman, F., Beltramo, F., Cornu, G. <strong>Juvenile hyaline fibromatosis: a report of two severe cases.</strong> J. Pediat. 119: 404-410, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1880654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1880654</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)82053-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1880654">Bedford et al. (1991)</a> described 2 severely affected unrelated children with painful flexion contractures of all the large joints, perianal granulomas, and recurrent infections from which both died at 19 months and 2 years. The parents of 1 of the children were consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1880654" 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="#22" class="mim-tip-reference" title="Stucki, U., Spycher, M. A., Eich, G., Rossi, A., Sacher, P., Steinmann, B., Superti-Furga, A. <strong>Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.</strong> Am. J. Med. Genet. 100: 122-129, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11298373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11298373</a>] [<a href="https://doi.org/10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11298373">Stucki et al. (2001)</a> described a brother and sister who presented with infantile systemic hyalinosis at ages 3.5 and 2 months, respectively. Both patients had skin lesions and painful joint contractures. Electron microscopic studies showed increased amorphous mucoid or hyaline material in the skin, with a striking perivascular deposition suggestive of an intravascular origin. The authors concluded that their findings supported the hypothesis of autosomal recessive inheritance of this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11298373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Edkins, S. J., Hughes, J., Bignell, G. R., Mancini, G., Kleijer, W., Campbell, M., Keser, G., Black, C., and 6 others. <strong>The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.</strong> Am. J. Hum. Genet. 71: 975-980, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12214284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12214284</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12214284[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12214284">Rahman et al. (2002)</a> reported 2 Indian families in which 4 individuals had hyaline fibromatosis. The families were presumably unrelated, but originated from the same small village. The patients presented in early childhood with progressive development of multiple subcutaneous swellings and nodules on the scalp, face, extremities, and trunk. Large nodules on the hands and feet coincided with underlying articular cartilage. Other features included gingival fibromatosis and progressive severe joint contractures. Radiographs showed osteopenia or osteolysis, and skin biopsy showed excessive hyaline deposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12214284" 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="El-Kamah, G. Y., Fong, K., El-Ruby, M., Afifi, H. H., Clements, S. E., Lai-Cheong, J. E., Amr, K., El-Darouti, M., McGrath, J. A. <strong>Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. (Letter)</strong> Brit. J. Derm. 163: 213-215, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20331448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20331448</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09769.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20331448">El-Kamah et al. (2010)</a> reported 3 Egyptian sibs, born of consanguineous parents, with severe infantile-onset hyaline fibromatosis. The first child died of respiratory distress at age 3 days. The second child had multiple cutaneous swellings, painful joint contractures, gingival hypertrophy, repeated chest infections, and intractable diarrhea. He died at age 4 years of cardiac arrest. The third child had painful joint contractures and died at age 2 years from diarrhea. Genetic analysis identified a homozygous truncating mutation in the ANTXR2 gene (1074delT; <a href="/entry/608041#0008">608041.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20331448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Denadai, R., Raposo-Amaral, C. E., Bertola, D., Kim, C., Alonso, N., Hart, T., Han, S., Stelini, R. F., Buzzo, C. L., Raposo-Amaral, C. A., Hart, P. S. <strong>Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.</strong> Am. J. Med. Genet. 158A: 732-742, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22383261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22383261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22383261[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/10.1002/ajmg.a.35228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22383261">Denadai et al. (2012)</a> reported a pair of sibs and 3 other unrelated patients, all of Brazilian origin, with hyaline fibromatosis syndrome. The sibs developed pearly skin papules on the face and neck and cutaneous nodules on the ears, scalp, and fingers at ages 3 and 8 months, respectively. The girl had recurrent diarrhea and failure to thrive in the first 2 years of life. Her brother developed numerous skin lesions all over the body, including some that coalesced to form plaques in the neck and gluteal regions. Both also had gingival hyperplasia and joint contractures. Two of the other patients also had severe failure to thrive, diarrhea, joint contractures followed by skin lesions, and gingival hyperplasia. The last patient was a 20-year-old man who was wheelchair-bound due to postural deformity and severe contractures of multiple joints. He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life. Radiographs of the patients showed osteolytic bone lesions. Duodenal biopsy of 1 patient with diarrhea showed deposition of hyalinized material. Histologic analysis of the skin lesions showed proliferation of spindle cells without atypical features forming strands in a homogeneous and hyaline eosinophilic material within the dermis. The material was PAS-positive and diastase-resistant. Some of the lesions had ulcerated. <a href="#4" class="mim-tip-reference" title="Denadai, R., Raposo-Amaral, C. E., Bertola, D., Kim, C., Alonso, N., Hart, T., Han, S., Stelini, R. F., Buzzo, C. L., Raposo-Amaral, C. A., Hart, P. S. <strong>Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.</strong> Am. J. Med. Genet. 158A: 732-742, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22383261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22383261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22383261[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/10.1002/ajmg.a.35228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22383261">Denadai et al. (2012)</a> concluded that it is difficult to classify patients with this disorder into an infantile or juvenile form, and suggested using the term hyaline fibromatosis syndrome (HFS), which reflects variable severity. <a href="#4" class="mim-tip-reference" title="Denadai, R., Raposo-Amaral, C. E., Bertola, D., Kim, C., Alonso, N., Hart, T., Han, S., Stelini, R. F., Buzzo, C. L., Raposo-Amaral, C. A., Hart, P. S. <strong>Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.</strong> Am. J. Med. Genet. 158A: 732-742, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22383261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22383261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22383261[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/10.1002/ajmg.a.35228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22383261">Denadai et al. (2012)</a> proposed a 4-grade grading system of the disorder to reflect increasing severity, with grade 4 resulting in early death due to severe clinical decompensation. The authors emphasized that adequate healthcare in the newborn period is critical for survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22383261" 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="#3" class="mim-tip-reference" title="Breier, F., Fang-Kircher, S., Wolff, K., Jurecka, W. <strong>Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts.</strong> Arch. Dis. Child. 77: 436-440, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9487969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9487969</a>] [<a href="https://doi.org/10.1136/adc.77.5.436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9487969">Breier et al. (1997)</a> described a 14-month-old girl with this disorder. Compared with controls, synthesis and degradation of type I collagen (<a href="/entry/120150">120150</a>, <a href="/entry/120160">120160</a>) was found to be increased in fibroblasts derived from the patient; in contrast, overall metabolism of type III collagen was reduced by 36%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9487969" 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>Both males and females are affected, and affected sibs have been reported, consistent with autosomal recessive inheritance (<a href="#6" class="mim-tip-reference" title="Drescher, E., Woyke, S., Markiewicz, C., Tegi, S. <strong>Juvenile fibromatosis in siblings (fibromatosis hyalinica multiplex juvenilis).</strong> J. Pediat. Surg. 2: 427-430, 1967."None>Drescher et al., 1967</a>; <a href="#8" class="mim-tip-reference" title="Enjoji, M., Kato, N., Kamikarzuru, K., Arima, E. <strong>Juvenile fibromatosis of the scalp in siblings.</strong> Acta Med. Univ. Kagoshima Suppl. 10: 145-151, 1968."None>Enjoji et al., 1968</a>).</p><p><a href="#15" class="mim-tip-reference" title="Kitano, Y. <strong>Juvenile hyalin fibromatosis.</strong> Arch. Derm. 112: 86-88, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/55105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">55105</a>]" pmid="55105">Kitano (1976)</a> reported an affected boy who was born of consanguineous parents, suggesting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=55105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Landing, B. H., Nadorra, R. <strong>Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.</strong> Pediat. Path. 6: 55-79, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2434938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2434938</a>] [<a href="https://doi.org/10.3109/15513818609025925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2434938">Landing and Nadorra (1986)</a> suggested autosomal recessive inheritance of infantile systemic hyalinosis since 2 sisters were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2434938" 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="Fayad, M. N., Yacoub, A., Salman, S., Khudr, A., Der Kaloustian, V. M. <strong>Juvenile hyaline fibromatosis: two new patients and review of the literature.</strong> Am. J. Med. Genet. 26: 123-131, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3544844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3544844</a>] [<a href="https://doi.org/10.1002/ajmg.1320260119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3544844">Fayad et al. (1987)</a> reviewed 15 previously reported cases; the great majority of these had a positive family history and several had parental consanguinity, suggesting autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3544844" 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>By genomewide linkage analysis of 2 unrelated Indian families with hyaline fibromatosis, <a href="#20" class="mim-tip-reference" title="Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Edkins, S. J., Hughes, J., Bignell, G. R., Mancini, G., Kleijer, W., Campbell, M., Keser, G., Black, C., and 6 others. <strong>The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.</strong> Am. J. Hum. Genet. 71: 975-980, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12214284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12214284</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12214284[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12214284">Rahman et al. (2002)</a> found linkage to a locus on chromosome 4q21. Fine mapping of this region in these families and in 3 additional affected families (<a href="#13" class="mim-tip-reference" title="Keser, G., Karabulut, B., Oksel, F., Calli, C., Utsun, E., Akalin, T., Kocanaogullari, H., Gumusdis, G., Doganavsargil, E. <strong>Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature.</strong> Clin. Rheum. 18: 248-252, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11206353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11206353</a>] [<a href="https://doi.org/10.1007/s100670050094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11206353">Keser et al., 1999</a>) delineated a 7-cM region on chromosome 4q21 between D4S2393 and D4S395 (maximum 2-point lod score of 4.22 at D4S395, maximum multipoint lod score of 5.5). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11206353+12214284" 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="#11" class="mim-tip-reference" title="Hanks, S., Adams, S., Douglas, J., Arbour, L., Atherton, D. J., Balci, S., Bode, H., Campbell, M. E., Feingold, M., Keser, G., Kleijer, W., Mancini, G., and 9 others. <strong>Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.</strong> Am. J. Hum. Genet. 73: 791-800, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508707</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14508707[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/378418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508707">Hanks et al. (2003)</a> and <a href="#5" class="mim-tip-reference" title="Dowling, O., Difeo, A., Ramirez, M. C., Tukel, T., Narla, G., Bonafe, L., Kayserili, H., Yuksel-Apak, M., Paller, A. S., Norton, K., Teebi, A. S., Grum-Tokars, V., Martin, G. S., Davis, G. E., Glucksman, M. J., Martignetti, J. A. <strong>Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.</strong> Am. J. Hum. Genet. 73: 957-966, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12973667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12973667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12973667[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/378781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12973667">Dowling et al. (2003)</a> identified mutations in the CMG2 gene as the cause of both infantile-onset and juvenile-onset hyaline fibromatosis (<a href="/entry/608041#0001">608041.0001</a>-<a href="/entry/608041#0007">608041.0007</a>), indicating that these disorders are allelic and part of the same phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12973667+14508707" 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="#17" class="mim-tip-reference" title="Murray, J. <strong>On three peculiar cases of molluscum fibrosum in one family.</strong> Med. Chir. Trans. London 56: 235-238, 1873."None>Murray (1873)</a> and <a href="#24" class="mim-tip-reference" title="Whitfield, A., Robinson, A. H. <strong>A further report on the remarkable series of cases of molluscum fibrosum in children communicated to the society by Dr. John Murray in 1873.</strong> Med.-Chir. Trans. London 86: 293 only, 1903."None>Whitfield and Robinson (1903)</a> reported 3 affected sibs whose unaffected parents were first cousins. These authors described the disorder as molluscum fibrosum.</p><p><a href="#23" class="mim-tip-reference" title="Suschke, J., Kunze, D. <strong>Ein neuer Mucopolysaccharidose.</strong> Dtsch. Med. Wschr. 96: 1941-1943, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4256761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4256761</a>] [<a href="https://doi.org/10.1055/s-0028-1110249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4256761">Suschke and Kunze (1971)</a> considered the condition to be a mucopolysaccharidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4256761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Roggli1980" class="mim-tip-reference" title="Roggli, V. L., Kim, H.-S., Hawkins, E. <strong>Congenital generalized fibromatosis with visceral involvement: a case report.</strong> Cancer 45: 954-960, 1980.">Roggli et al. (1980)</a>; <a href="#Woyke1970" class="mim-tip-reference" title="Woyke, S., Domagala, W., Olszewski, W. <strong>Ultrastructure of a fibromatosis hyalinica multiplex juvenilis.</strong> Cancer 26: 1157-1168, 1970.">Woyke et al. (1970)</a>
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Aldred, M. J., Crawford, P. J. M.
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<strong>Juvenile hyaline fibromatosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2433666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2433666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2433666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bedford, C. D., Sills, J. A., Sommelet-Olive, D., Boman, F., Beltramo, F., Cornu, G.
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<strong>Juvenile hyaline fibromatosis: a report of two severe cases.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1880654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1880654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1880654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)82053-0" target="_blank">Full Text</a>]
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Breier, F., Fang-Kircher, S., Wolff, K., Jurecka, W.
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<strong>Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts.</strong>
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Arch. Dis. Child. 77: 436-440, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9487969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9487969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9487969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Denadai, R., Raposo-Amaral, C. E., Bertola, D., Kim, C., Alonso, N., Hart, T., Han, S., Stelini, R. F., Buzzo, C. L., Raposo-Amaral, C. A., Hart, P. S.
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<strong>Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.</strong>
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Am. J. Med. Genet. 158A: 732-742, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22383261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22383261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22383261[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=22383261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.35228" target="_blank">Full Text</a>]
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Dowling, O., Difeo, A., Ramirez, M. C., Tukel, T., Narla, G., Bonafe, L., Kayserili, H., Yuksel-Apak, M., Paller, A. S., Norton, K., Teebi, A. S., Grum-Tokars, V., Martin, G. S., Davis, G. E., Glucksman, M. J., Martignetti, J. A.
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<strong>Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.</strong>
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Am. J. Hum. Genet. 73: 957-966, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12973667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12973667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12973667[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=12973667" 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/10.1086/378781" target="_blank">Full Text</a>]
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Drescher, E., Woyke, S., Markiewicz, C., Tegi, S.
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<strong>Juvenile fibromatosis in siblings (fibromatosis hyalinica multiplex juvenilis).</strong>
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J. Pediat. Surg. 2: 427-430, 1967.
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El-Kamah, G. Y., Fong, K., El-Ruby, M., Afifi, H. H., Clements, S. E., Lai-Cheong, J. E., Amr, K., El-Darouti, M., McGrath, J. A.
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<strong>Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. (Letter)</strong>
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Brit. J. Derm. 163: 213-215, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20331448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20331448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20331448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.2010.09769.x" target="_blank">Full Text</a>]
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Enjoji, M., Kato, N., Kamikarzuru, K., Arima, E.
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<strong>Juvenile fibromatosis of the scalp in siblings.</strong>
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Acta Med. Univ. Kagoshima Suppl. 10: 145-151, 1968.
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Fayad, M. N., Yacoub, A., Salman, S., Khudr, A., Der Kaloustian, V. M.
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<strong>Juvenile hyaline fibromatosis: two new patients and review of the literature.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3544844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3544844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3544844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260119" target="_blank">Full Text</a>]
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Gorlin, R. J., Cohen, M. M., Jr., Levin, L. S.
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<strong>Syndromes of the Head and Neck. (3rd ed.)</strong>
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<a id="Hanks2003" class="mim-anchor"></a>
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Hanks, S., Adams, S., Douglas, J., Arbour, L., Atherton, D. J., Balci, S., Bode, H., Campbell, M. E., Feingold, M., Keser, G., Kleijer, W., Mancini, G., and 9 others.
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<strong>Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.</strong>
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Am. J. Hum. Genet. 73: 791-800, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508707</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14508707[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=14508707" 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/10.1086/378418" target="_blank">Full Text</a>]
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<a id="Ishikawa1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ishikawa, H., Hori, Y.
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<strong>Systematisierte Hyalinose in Zusammenhang mit Epidermolysis bullosa polydystrophica und hyalinosis cutis et mucosae.</strong>
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Arch. Klin. Exp. Derm. 218: 30-51, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14106976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14106976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14106976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Keser1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Keser, G., Karabulut, B., Oksel, F., Calli, C., Utsun, E., Akalin, T., Kocanaogullari, H., Gumusdis, G., Doganavsargil, E.
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<strong>Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature.</strong>
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Clin. Rheum. 18: 248-252, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11206353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11206353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11206353" 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/s100670050094" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Kitano1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kitano, Y., Horiki, M., Aoki, T., Sagami, S.
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<strong>Two cases of juvenile hyalin fibromatosis: some histological, electron microscopic, and tissue culture observations.</strong>
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Arch. Derm. 106: 877-883, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4118157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4118157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4118157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Kitano1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kitano, Y.
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<strong>Juvenile hyalin fibromatosis.</strong>
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Arch. Derm. 112: 86-88, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/55105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">55105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=55105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Landing1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Landing, B. H., Nadorra, R.
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<strong>Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.</strong>
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Pediat. Path. 6: 55-79, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2434938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2434938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2434938" 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/10.3109/15513818609025925" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Murray1873" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Murray, J.
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<strong>On three peculiar cases of molluscum fibrosum in one family.</strong>
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Med. Chir. Trans. London 56: 235-238, 1873.
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<a id="18" class="mim-anchor"></a>
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<a id="Nezelof1978" class="mim-anchor"></a>
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<p class="mim-text-font">
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Nezelof, C., Letourneux-Toromanoff, B., Griscelli, C., Girot, R., Saudubray, J.-M., Mozziconacci, P.
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<strong>La fibromatose disseminee douloureuse (hyalinose systemique): une nouvelle dysplasie hereditaire du collagene.</strong>
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Arch. Franc. Pediat. 35: 1063-1074, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/86330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">86330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=86330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Puretic1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Puretic, S., Puretic, B., Fiser-Herman, M., Adamcic, M.
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<strong>A unique form of mesenchymal dysplasia.</strong>
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Brit. J. Derm. 74: 8-19, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14489244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14489244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14489244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1962.tb13905.x" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Rahman2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Edkins, S. J., Hughes, J., Bignell, G. R., Mancini, G., Kleijer, W., Campbell, M., Keser, G., Black, C., and 6 others.
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<strong>The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.</strong>
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Am. J. Hum. Genet. 71: 975-980, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12214284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12214284</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12214284[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=12214284" 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/10.1086/342776" target="_blank">Full Text</a>]
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Roggli1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roggli, V. L., Kim, H.-S., Hawkins, E.
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<strong>Congenital generalized fibromatosis with visceral involvement: a case report.</strong>
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Cancer 45: 954-960, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7260846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7260846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7260846" 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(19800301)45:5<954::aid-cncr2820450520>3.0.co;2-q" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Stucki2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stucki, U., Spycher, M. A., Eich, G., Rossi, A., Sacher, P., Steinmann, B., Superti-Furga, A.
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<strong>Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.</strong>
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Am. J. Med. Genet. 100: 122-129, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11298373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11298373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11298373" 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/10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Suschke1971" class="mim-anchor"></a>
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<div class="">
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Suschke, J., Kunze, D.
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<strong>Ein neuer Mucopolysaccharidose.</strong>
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Dtsch. Med. Wschr. 96: 1941-1943, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4256761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4256761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4256761" 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/10.1055/s-0028-1110249" target="_blank">Full Text</a>]
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<a id="Whitfield1903" class="mim-anchor"></a>
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Whitfield, A., Robinson, A. H.
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<strong>A further report on the remarkable series of cases of molluscum fibrosum in children communicated to the society by Dr. John Murray in 1873.</strong>
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Med.-Chir. Trans. London 86: 293 only, 1903.
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<a id="25" class="mim-anchor"></a>
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<a id="Woyke1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woyke, S., Domagala, W., Olszewski, W.
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<strong>Ultrastructure of a fibromatosis hyalinica multiplex juvenilis.</strong>
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Cancer 26: 1157-1168, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5476796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5476796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5476796" 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(197011)26:5<1157::aid-cncr2820260528>3.0.co;2-2" target="_blank">Full Text</a>]
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<br />
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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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Cassandra L. Kniffin - updated : 1/14/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 10/14/2003<br>Victor A. McKusick - updated : 3/27/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 03/31/2022
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carol : 03/30/2022<br>carol : 03/29/2022<br>carol : 07/09/2016<br>alopez : 1/18/2013<br>ckniffin : 1/14/2013<br>carol : 9/17/2012<br>carol : 5/3/2005<br>tkritzer : 2/13/2004<br>terry : 10/14/2003<br>dkim : 7/24/1998<br>psherman : 3/27/1998<br>dholmes : 3/5/1998<br>davew : 8/26/1994<br>mimadm : 2/19/1994<br>carol : 4/1/1992<br>supermim : 3/16/1992<br>carol : 11/4/1991<br>carol : 2/28/1991
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<span class="mim-font">
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<strong>#</strong> 228600
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HYALINE FIBROMATOSIS SYNDROME; HFS
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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HYALINOSIS, SYSTEMIC
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1197494003;
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<strong>ORPHA:</strong> 2028, 2176;
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<strong>DO:</strong> 0111669;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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4q21.21
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<span class="mim-font">
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Hyaline fibromatosis syndrome
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<span class="mim-font">
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228600
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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ANTXR2
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<span class="mim-font">
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608041
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because hyaline fibromatosis syndrome (HFS) is caused by homozygous or compound heterozygous mutation in the gene encoding capillary morphogenesis protein-2 (CMG2, or ANTXR2; 608041) on chromosome 4q21.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by Denadai et al., 2012). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Puretic et al. (1962) described what they considered to be a novel connective tissue disorder. In addition to the proband, a brother and sister were probably affected, having died in infancy with painful flexural contractures of the elbows, shoulder joints and knees, which developed at about 3 months of age. The proband also showed deformity of the face and skull, stunted growth, osteolysis of terminal phalanges, multiple large subcutaneous nodes, some calcified, dysseborrheic, sclerodermiform and atrophic changes of the skin, recurrent suppurative infections of the skin, eyes, nose and ears, and gingival fibromatosis. Ishikawa and Hori (1963) described a 2.5-year-old Japanese infant whose sib had died at 8 months, probably of the same condition. 'Systemic hyalinosis' was suggested as a designation. </p><p>Kitano et al. (1972) reported the disorder in 2 sibs, and observed that cells from affected areas contained a metachromatic substance. </p><p>Kitano (1976) reported an affected boy who was born of consanguineous parents. He had large tumors on the scalp and whitish nodules on the nape and sides of the neck. Hypertrophic gingivae and tumors at both commissures of the lips were illustrated. Histopathologic studies showed that the tumor cells were embedded in an amorphous eosinophilic ground substance. X-ray films showed numerous osteolytic and osteoclastic lesions of the skeleton. </p><p>Aldred and Crawford (1987) gave a comprehensive review of 23 cases of juvenile hyaline fibromatosis from 17 families. </p><p>Landing and Nadorra (1986) described a condition, which they called infantile systemic hyalinosis, in 4 female Mexican-American infants, including 2 sibs. The main features were early thickening and focal nodularity of the skin leading to reduced movement and joint contractures, gum hypertrophy, and osteoporosis. The infants failed to thrive and had diarrhea and recurrent infections. All had onset in the first week of life and died before age 20 months. Pathologic examination showed widespread deposits of hyaline material in skin, skeletal muscle, gastrointestinal tract, endocrine glands, and other locations. The condition was probably first described by Nezelof et al. (1978). Landing and Nadorra (1986) suggested that this infantile systemic disorder was distinct from juvenile systemic hyalinosis, which they considered to be the same as juvenile hyaline fibromatosis. </p><p>Aldred and Crawford (1987) gave a comprehensive review of 23 cases from 17 families. </p><p>Gorlin et al. (1990) emphasized the occurrence of flexion contractures and gingival fibromatosis.</p><p>Bedford et al. (1991) described 2 severely affected unrelated children with painful flexion contractures of all the large joints, perianal granulomas, and recurrent infections from which both died at 19 months and 2 years. The parents of 1 of the children were consanguineous. </p><p>Stucki et al. (2001) described a brother and sister who presented with infantile systemic hyalinosis at ages 3.5 and 2 months, respectively. Both patients had skin lesions and painful joint contractures. Electron microscopic studies showed increased amorphous mucoid or hyaline material in the skin, with a striking perivascular deposition suggestive of an intravascular origin. The authors concluded that their findings supported the hypothesis of autosomal recessive inheritance of this condition. </p><p>Rahman et al. (2002) reported 2 Indian families in which 4 individuals had hyaline fibromatosis. The families were presumably unrelated, but originated from the same small village. The patients presented in early childhood with progressive development of multiple subcutaneous swellings and nodules on the scalp, face, extremities, and trunk. Large nodules on the hands and feet coincided with underlying articular cartilage. Other features included gingival fibromatosis and progressive severe joint contractures. Radiographs showed osteopenia or osteolysis, and skin biopsy showed excessive hyaline deposition. </p><p>El-Kamah et al. (2010) reported 3 Egyptian sibs, born of consanguineous parents, with severe infantile-onset hyaline fibromatosis. The first child died of respiratory distress at age 3 days. The second child had multiple cutaneous swellings, painful joint contractures, gingival hypertrophy, repeated chest infections, and intractable diarrhea. He died at age 4 years of cardiac arrest. The third child had painful joint contractures and died at age 2 years from diarrhea. Genetic analysis identified a homozygous truncating mutation in the ANTXR2 gene (1074delT; 608041.0008). </p><p>Denadai et al. (2012) reported a pair of sibs and 3 other unrelated patients, all of Brazilian origin, with hyaline fibromatosis syndrome. The sibs developed pearly skin papules on the face and neck and cutaneous nodules on the ears, scalp, and fingers at ages 3 and 8 months, respectively. The girl had recurrent diarrhea and failure to thrive in the first 2 years of life. Her brother developed numerous skin lesions all over the body, including some that coalesced to form plaques in the neck and gluteal regions. Both also had gingival hyperplasia and joint contractures. Two of the other patients also had severe failure to thrive, diarrhea, joint contractures followed by skin lesions, and gingival hyperplasia. The last patient was a 20-year-old man who was wheelchair-bound due to postural deformity and severe contractures of multiple joints. He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life. Radiographs of the patients showed osteolytic bone lesions. Duodenal biopsy of 1 patient with diarrhea showed deposition of hyalinized material. Histologic analysis of the skin lesions showed proliferation of spindle cells without atypical features forming strands in a homogeneous and hyaline eosinophilic material within the dermis. The material was PAS-positive and diastase-resistant. Some of the lesions had ulcerated. Denadai et al. (2012) concluded that it is difficult to classify patients with this disorder into an infantile or juvenile form, and suggested using the term hyaline fibromatosis syndrome (HFS), which reflects variable severity. Denadai et al. (2012) proposed a 4-grade grading system of the disorder to reflect increasing severity, with grade 4 resulting in early death due to severe clinical decompensation. The authors emphasized that adequate healthcare in the newborn period is critical for survival. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Breier et al. (1997) described a 14-month-old girl with this disorder. Compared with controls, synthesis and degradation of type I collagen (120150, 120160) was found to be increased in fibroblasts derived from the patient; in contrast, overall metabolism of type III collagen was reduced by 36%. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Both males and females are affected, and affected sibs have been reported, consistent with autosomal recessive inheritance (Drescher et al., 1967; Enjoji et al., 1968).</p><p>Kitano (1976) reported an affected boy who was born of consanguineous parents, suggesting autosomal recessive inheritance. </p><p>Landing and Nadorra (1986) suggested autosomal recessive inheritance of infantile systemic hyalinosis since 2 sisters were affected. </p><p>Fayad et al. (1987) reviewed 15 previously reported cases; the great majority of these had a positive family history and several had parental consanguinity, suggesting autosomal recessive inheritance. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomewide linkage analysis of 2 unrelated Indian families with hyaline fibromatosis, Rahman et al. (2002) found linkage to a locus on chromosome 4q21. Fine mapping of this region in these families and in 3 additional affected families (Keser et al., 1999) delineated a 7-cM region on chromosome 4q21 between D4S2393 and D4S395 (maximum 2-point lod score of 4.22 at D4S395, maximum multipoint lod score of 5.5). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hanks et al. (2003) and Dowling et al. (2003) identified mutations in the CMG2 gene as the cause of both infantile-onset and juvenile-onset hyaline fibromatosis (608041.0001-608041.0007), indicating that these disorders are allelic and part of the same phenotypic spectrum. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Murray (1873) and Whitfield and Robinson (1903) reported 3 affected sibs whose unaffected parents were first cousins. These authors described the disorder as molluscum fibrosum.</p><p>Suschke and Kunze (1971) considered the condition to be a mucopolysaccharidosis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Roggli et al. (1980); Woyke et al. (1970)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aldred, M. J., Crawford, P. J. M.
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<strong>Juvenile hyaline fibromatosis.</strong>
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Oral Surg. Oral Med. Oral Path. 63: 71-77, 1987.
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[PubMed: 2433666]
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[Full Text: https://doi.org/10.1016/0030-4220(87)90343-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bedford, C. D., Sills, J. A., Sommelet-Olive, D., Boman, F., Beltramo, F., Cornu, G.
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<strong>Juvenile hyaline fibromatosis: a report of two severe cases.</strong>
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J. Pediat. 119: 404-410, 1991.
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[PubMed: 1880654]
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[Full Text: https://doi.org/10.1016/s0022-3476(05)82053-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Breier, F., Fang-Kircher, S., Wolff, K., Jurecka, W.
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<strong>Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts.</strong>
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Arch. Dis. Child. 77: 436-440, 1997.
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[PubMed: 9487969]
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[Full Text: https://doi.org/10.1136/adc.77.5.436]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Denadai, R., Raposo-Amaral, C. E., Bertola, D., Kim, C., Alonso, N., Hart, T., Han, S., Stelini, R. F., Buzzo, C. L., Raposo-Amaral, C. A., Hart, P. S.
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<strong>Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.</strong>
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Am. J. Med. Genet. 158A: 732-742, 2012.
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[PubMed: 22383261]
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[Full Text: https://doi.org/10.1002/ajmg.a.35228]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dowling, O., Difeo, A., Ramirez, M. C., Tukel, T., Narla, G., Bonafe, L., Kayserili, H., Yuksel-Apak, M., Paller, A. S., Norton, K., Teebi, A. S., Grum-Tokars, V., Martin, G. S., Davis, G. E., Glucksman, M. J., Martignetti, J. A.
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<strong>Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.</strong>
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Am. J. Hum. Genet. 73: 957-966, 2003.
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[PubMed: 12973667]
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[Full Text: https://doi.org/10.1086/378781]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Drescher, E., Woyke, S., Markiewicz, C., Tegi, S.
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<strong>Juvenile fibromatosis in siblings (fibromatosis hyalinica multiplex juvenilis).</strong>
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J. Pediat. Surg. 2: 427-430, 1967.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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El-Kamah, G. Y., Fong, K., El-Ruby, M., Afifi, H. H., Clements, S. E., Lai-Cheong, J. E., Amr, K., El-Darouti, M., McGrath, J. A.
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<strong>Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. (Letter)</strong>
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Brit. J. Derm. 163: 213-215, 2010.
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[PubMed: 20331448]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2010.09769.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Enjoji, M., Kato, N., Kamikarzuru, K., Arima, E.
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<strong>Juvenile fibromatosis of the scalp in siblings.</strong>
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Acta Med. Univ. Kagoshima Suppl. 10: 145-151, 1968.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fayad, M. N., Yacoub, A., Salman, S., Khudr, A., Der Kaloustian, V. M.
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<strong>Juvenile hyaline fibromatosis: two new patients and review of the literature.</strong>
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|
Am. J. Med. Genet. 26: 123-131, 1987.
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[PubMed: 3544844]
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<strong>Systematisierte Hyalinose in Zusammenhang mit Epidermolysis bullosa polydystrophica und hyalinosis cutis et mucosae.</strong>
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Kitano, Y.
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Landing, B. H., Nadorra, R.
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<strong>Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.</strong>
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Murray, J.
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<strong>On three peculiar cases of molluscum fibrosum in one family.</strong>
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Med. Chir. Trans. London 56: 235-238, 1873.
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Nezelof, C., Letourneux-Toromanoff, B., Griscelli, C., Girot, R., Saudubray, J.-M., Mozziconacci, P.
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<strong>La fibromatose disseminee douloureuse (hyalinose systemique): une nouvelle dysplasie hereditaire du collagene.</strong>
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Arch. Franc. Pediat. 35: 1063-1074, 1978.
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Puretic, S., Puretic, B., Fiser-Herman, M., Adamcic, M.
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<strong>A unique form of mesenchymal dysplasia.</strong>
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Brit. J. Derm. 74: 8-19, 1962.
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Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Edkins, S. J., Hughes, J., Bignell, G. R., Mancini, G., Kleijer, W., Campbell, M., Keser, G., Black, C., and 6 others.
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<strong>The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.</strong>
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Roggli, V. L., Kim, H.-S., Hawkins, E.
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<strong>Congenital generalized fibromatosis with visceral involvement: a case report.</strong>
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Cancer 45: 954-960, 1980.
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[Full Text: https://doi.org/10.1002/1097-0142(19800301)45:5<954::aid-cncr2820450520>3.0.co;2-q]
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Stucki, U., Spycher, M. A., Eich, G., Rossi, A., Sacher, P., Steinmann, B., Superti-Furga, A.
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Suschke, J., Kunze, D.
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<strong>Ein neuer Mucopolysaccharidose.</strong>
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Whitfield, A., Robinson, A. H.
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<strong>A further report on the remarkable series of cases of molluscum fibrosum in children communicated to the society by Dr. John Murray in 1873.</strong>
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Med.-Chir. Trans. London 86: 293 only, 1903.
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Woyke, S., Domagala, W., Olszewski, W.
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<strong>Ultrastructure of a fibromatosis hyalinica multiplex juvenilis.</strong>
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[PubMed: 5476796]
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[Full Text: https://doi.org/10.1002/1097-0142(197011)26:5<1157::aid-cncr2820260528>3.0.co;2-2]
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Cassandra L. Kniffin - updated : 1/14/2013<br>Victor A. McKusick - updated : 10/14/2003<br>Victor A. McKusick - updated : 3/27/1998
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Victor A. McKusick : 6/3/1986
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