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Entry
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- 219250 - CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
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- OMIM
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<span class="h4">219250</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="/clinicalSynopsis/219250"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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=CUTIS MARMORATA TELANGIECTATICA CONGENITA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=454&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK581081/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1556" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d4390e46-a441-4017-b86a-ac647aeb8084/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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<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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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 254778000<br />
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<strong>ORPHA:</strong> 1556<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Other, mainly phenotypes with suspected mendelian basis">
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219250
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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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CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
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</h3>
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<br />
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<a href="/clinicalSynopsis/219250" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<strong> Skin </strong>
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<div style="margin-left: 2em;">
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- Livedo reticularis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238772004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238772004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033505</a>]</span><br /> - Telangiectases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> - Superficial ulceration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15498001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15498001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333307</a>]</span><br /> - Phlebectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128060009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128060009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399989005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399989005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12856003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12856003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I83.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I83.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042345</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002619" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002619</a>]</span><br />
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<span class="h5 mim-font">
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<strong> Limbs </strong>
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- Short leg <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249786007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249786007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426901&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426901</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006385</a>]</span><br /> - Thin leg<br /> - Tendinitis, stenosing<br /> - Bowed legs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a>, <a href="https://bioportal.bioontology.org/search?q=C5574706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002979</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002979</a>]</span><br />
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- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
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- Congenital retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/314270008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">314270008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44647001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44647001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266568</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007968</a>]</span><br /> - Neovascular glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232086000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232086000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017609</a>]</span><br /> - Leukocoria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1361009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1361009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H44.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H44.53</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/360.44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">360.44</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000555</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000555</a>]</span><br />
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<span class="h5 mim-font">
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<strong> Misc </strong>
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<span class="mim-font">
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- Skin lesions improve with age<br />
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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<div style="margin-left: 2em;">
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- 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 />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4>
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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 id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<p><a href="#17" class="mim-tip-reference" title="Van Lohuizen, C. H. J. <strong>Ueber eine seltene angeborene Haut-anomalie (Cutis marmorata telangiectatica congenita).</strong> Acta Derm. Venerol. 3: 202-211, 1922."None>Van Lohuizen (1922)</a> described a child with livedo reticularis, telangiectases, and superficial ulceration. <a href="#18" class="mim-tip-reference" title="Way, B. H., Herrmann, J., Gilbert, E. F., Johnson, S. A. M., Opitz, J. M. <strong>Cutis marmorata telangiectatica congenita.</strong> J. Cutan. Path. 1: 10-25, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4220056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4220056</a>] [<a href="https://doi.org/10.1111/j.1600-0560.1974.tb00188.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4220056">Way et al. (1974)</a> found that all reported cases had been sporadic. <a href="#1" class="mim-tip-reference" title="Andreev, V. C., Pramatarov, K. <strong>Cutis marmorata telangiectatica congenita in two sisters.</strong> Brit. J. Derm. 101: 345-350, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508599</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1979.tb05630.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="508599">Andreev and Pramatarov (1979)</a> reported 2 adult sisters with CMTC. Onset was at birth in both. One developed hypertension at age 16 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4220056+508599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Kurczynski, T. W. <strong>Hereditary cutis marmorata telangiectatica congenita.</strong> Pediatrics 70: 52-53, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7088633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7088633</a>]" pmid="7088633">Kurczynski (1982)</a> described the case of a 4-year-old girl whose father and paternal grandmother were said to be identically affected in childhood with improvement by adulthood. <a href="#13" class="mim-tip-reference" title="Robinow, M. <strong>Personal Communication.</strong> Dayton, Ohio 8/15/1985."None>Robinow (1985)</a> saw 2 cases of CMTC in seemingly unrelated children of German ancestry living near each other in Ohio. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7088633" 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="Shields, J. A., Shields, C. L., Koller, H. P., Federman, J. L., Koblenzer, P., Barbera, L. S. <strong>Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment.</strong> Retina 10: 135-139, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2205894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2205894</a>] [<a href="https://doi.org/10.1097/00006982-199004000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2205894">Shields et al. (1990)</a> described a female child in whom CMTC was associated with congenital bilateral total retinal detachments and secondary neovascular glaucoma. Retinal detachments produced bilateral leukocoria simulating retinoblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2205894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a report of a patient with CMTC who also had congenital hypothyroidism, <a href="#10" class="mim-tip-reference" title="Pehr, K., Moroz, B. <strong>Cutis marmorata telangiectatica congenita: Long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism.</strong> Pediat. Derm. 10: 6-11, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8493172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8493172</a>] [<a href="https://doi.org/10.1111/j.1525-1470.1993.tb00002.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8493172">Pehr and Moroz (1993)</a> noted that two-thirds of patients with CMTC have other associated anomalies. <a href="#9" class="mim-tip-reference" title="Lingier, P., Munck, D., Godart S. <strong>Cutis marmorata telangiectatica congenita. A propos de quatre nouveaux cas.</strong> Phlebologie 45: 489-496, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302325</a>]" pmid="1302325">Lingier et al. (1992)</a> reported 4 cases with prominent phlebectasia. <a href="#5" class="mim-tip-reference" title="Dutkowsky, J. P., Kasser, J. R., Kaplan, L. C. <strong>Leg length discrepancy associated with vivid cutis marmorata.</strong> J. Pediatr. Orthop. 13: 456-458, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8370779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8370779</a>] [<a href="https://doi.org/10.1097/01241398-199307000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8370779">Dutkowsky et al. (1993)</a> reported leg-length discrepancies, and <a href="#7" class="mim-tip-reference" title="Kennedy, C., Oranje, A. P., Keizer K., van den Heuvel, M. M., Catsman-Berrevoets, C. E. <strong>Cutis marmorata telangiectatica congenita.</strong> Int. J. Derm. 31: 249-252, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634290</a>] [<a href="https://doi.org/10.1111/j.1365-4362.1992.tb03564.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1634290">Kennedy et al. (1992)</a> noted that 2 patients had a short leg that was also thinner. They also reported associated tendinitis stenosans (stenosing tendinitis) and bowing of the lower legs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1302325+8370779+1634290+8493172" 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="Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D. <strong>Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?</strong> Am. J. Med. Genet. 29: 269-276, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354598</a>] [<a href="https://doi.org/10.1002/ajmg.1320290204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3354598">Toriello et al. (1988)</a> described CMTC in association with Adams-Oliver syndrome (<a href="/entry/100300">100300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3354598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ben-Amitai, D., Merlob, P., Metzker, A. <strong>Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases.</strong> J. Am. Acad. Derm. 45: 131-132, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11423849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11423849</a>] [<a href="https://doi.org/10.1067/mjd.2001.112383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11423849">Ben-Amitai et al. (2001)</a> noted that fewer than 300 cases of CMTC had been reported in the world literature. The first association of CMTC with congenital anomalies, namely, Sturge-Weber syndrome (<a href="/entry/185300">185300</a>) and patent ductus arteriosus (<a href="/entry/607411">607411</a>), was described by <a href="#11" class="mim-tip-reference" title="Petrozzi, J. W., Rahn, E. K., Mofenson, H., Greensher, J. <strong>Cutis marmorata telangiectatica congenita.</strong> Arch. Derm. 101: 74-77, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416798</a>]" pmid="5416798">Petrozzi et al. (1970)</a>. Associated malformations are thought to occur in approximately 20 to 40% of affected individuals (<a href="#12" class="mim-tip-reference" title="Picascia, D. D., Esterly, N. B. <strong>Cutis marmorata telangiectatica congenita: report of 22 cases.</strong> J. Am. Acad. Derm. 20: 1098-1104, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666459</a>] [<a href="https://doi.org/10.1016/s0190-9622(89)70140-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2666459">Picascia and Esterly, 1989</a>; <a href="#4" class="mim-tip-reference" title="Devillers, A. C. A., de Waard-van der Spek, F. B., Oranje, A. P. <strong>Cutis marmorata telangiectatica congenita: clinical features in 35 cases.</strong> Arch. Derm. 135: 34-38, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9923778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9923778</a>] [<a href="https://doi.org/10.1001/archderm.135.1.34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9923778">Devillers et al., 1999</a>; <a href="#2" class="mim-tip-reference" title="Ben-Amitai, D., Fichman, S., Merlob, P., Morad, Y., Lapidoth, M., Metzker, A. <strong>Cutis marmorata telangiectatica congenita: clinical findings in 85 patients.</strong> Pediat. Derm. 17: 100-104, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792796</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2000.01723.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10792796">Ben-Amitai et al., 2000</a>). <a href="#3" class="mim-tip-reference" title="Ben-Amitai, D., Merlob, P., Metzker, A. <strong>Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases.</strong> J. Am. Acad. Derm. 45: 131-132, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11423849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11423849</a>] [<a href="https://doi.org/10.1067/mjd.2001.112383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11423849">Ben-Amitai et al. (2001)</a> reported the occurrence of hypospadias in 4 patients in a series of 52 Israeli males with CMTC (7.69%), which is more than 13 times the rate of isolated hypospadias in this population. <a href="#3" class="mim-tip-reference" title="Ben-Amitai, D., Merlob, P., Metzker, A. <strong>Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases.</strong> J. Am. Acad. Derm. 45: 131-132, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11423849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11423849</a>] [<a href="https://doi.org/10.1067/mjd.2001.112383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11423849">Ben-Amitai et al. (2001)</a> suggested that hypospadias may be an associated noncutaneous feature of CMTC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9923778+11423849+10792796+5416798+2666459" 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="Torrelo, A., Zambrano, A., Happle, R. <strong>Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis.</strong> Brit. J. Derm. 148: 342-345, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588390</a>] [<a href="https://doi.org/10.1046/j.1365-2133.2003.05118.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588390">Torrelo et al. (2003)</a> reported 2 patients with an unusual association of extensive cutis marmorata telangiectatica congenita and aberrant mongolian spots. They asserted that this association is best explained as a phenomenon of nonallelic twin spotting and suggested that this condition may be a novel variant form of phacomatosis pigmentovascularis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hinek, A., Jain, S., Taylor, G., Nykanen, D., Chitayat, D. <strong>High copper levels and increased elastolysis in a patient with cutis marmorata telangiectasia congenita.</strong> Am. J. Med. Genet. 146A: 2520-2527, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18792971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18792971</a>] [<a href="https://doi.org/10.1002/ajmg.a.32474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18792971">Hinek et al. (2008)</a> reported a 16-month-old boy with CMTC and generalized vascular abnormalities. At birth, he had multiple bluish-red reticulated bands scattered over the entire skin surface and associated with ulcerations. Dilated veins over the face, scalp, and abdomen were also noted. After 2 to 3 months, the ulcerations had healed well, while the bluish-red reticulated marks and the dilated veins persisted. He had a retinal bleed at age 7 months, and showed developmental delay, seizures, and extensive periventricular white matter calcifications on brain imaging. At 14 months, he was found to have severe pulmonary hypertension with significant tricuspid insufficiency and right heart failure. An open lung biopsy demonstrated marked hyperplasia of medial smooth muscle and small pulmonary arteries. He died at age 20 months from persistent severe hypoxemia. Postmortem examination showed abnormal pulmonary arteries and veins, with irregular thick elastic lamina in the media. Laboratory studies showed increased blood copper levels. Studies of dermal fibroblasts from the patient showed normal tropoelastin (ELN; <a href="/entry/130160">130160</a>) synthesis, but decreased deposition of mature elastic fibers that appeared to result from heightened elastolysis. Further studies indicated that the increased elastolysis was due to copper-dependent inactivation of alpha-1-antitrypsin (PI; <a href="/entry/107400">107400</a>). The cells also produced more reactive oxygen species. <a href="#6" class="mim-tip-reference" title="Hinek, A., Jain, S., Taylor, G., Nykanen, D., Chitayat, D. <strong>High copper levels and increased elastolysis in a patient with cutis marmorata telangiectasia congenita.</strong> Am. J. Med. Genet. 146A: 2520-2527, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18792971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18792971</a>] [<a href="https://doi.org/10.1002/ajmg.a.32474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18792971">Hinek et al. (2008)</a> suggested that a high level of free copper in this patient was a major triggering factor contributing to the development of the CMTC phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18792971" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the ARL6IP6 gene and cutis marmorata telangiectatica congenita, see <a href="/entry/616495#0001">616495.0001</a>.</p>
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<a id="Andreev1979" class="mim-anchor"></a>
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Andreev, V. C., Pramatarov, K.
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<strong>Cutis marmorata telangiectatica congenita in two sisters.</strong>
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Brit. J. Derm. 101: 345-350, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=508599" 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.1365-2133.1979.tb05630.x" target="_blank">Full Text</a>]
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Ben-Amitai, D., Fichman, S., Merlob, P., Morad, Y., Lapidoth, M., Metzker, A.
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<strong>Cutis marmorata telangiectatica congenita: clinical findings in 85 patients.</strong>
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Pediat. Derm. 17: 100-104, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10792796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10792796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10792796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1525-1470.2000.01723.x" target="_blank">Full Text</a>]
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Ben-Amitai, D., Merlob, P., Metzker, A.
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<strong>Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases.</strong>
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J. Am. Acad. Derm. 45: 131-132, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11423849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11423849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11423849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Devillers, A. C. A., de Waard-van der Spek, F. B., Oranje, A. P.
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<strong>Cutis marmorata telangiectatica congenita: clinical features in 35 cases.</strong>
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Arch. Derm. 135: 34-38, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9923778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9923778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9923778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dutkowsky, J. P., Kasser, J. R., Kaplan, L. C.
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<strong>Leg length discrepancy associated with vivid cutis marmorata.</strong>
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J. Pediatr. Orthop. 13: 456-458, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8370779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8370779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8370779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hinek, A., Jain, S., Taylor, G., Nykanen, D., Chitayat, D.
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<strong>High copper levels and increased elastolysis in a patient with cutis marmorata telangiectasia congenita.</strong>
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Am. J. Med. Genet. 146A: 2520-2527, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18792971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18792971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18792971" 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.32474" target="_blank">Full Text</a>]
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Kennedy, C., Oranje, A. P., Keizer K., van den Heuvel, M. M., Catsman-Berrevoets, C. E.
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<strong>Cutis marmorata telangiectatica congenita.</strong>
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Int. J. Derm. 31: 249-252, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1634290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1634290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1634290" 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.1365-4362.1992.tb03564.x" target="_blank">Full Text</a>]
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Kurczynski, T. W.
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<strong>Hereditary cutis marmorata telangiectatica congenita.</strong>
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Pediatrics 70: 52-53, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7088633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7088633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7088633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lingier, P., Munck, D., Godart S.
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<strong>Cutis marmorata telangiectatica congenita. A propos de quatre nouveaux cas.</strong>
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Phlebologie 45: 489-496, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1302325" 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="10" class="mim-anchor"></a>
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<a id="Pehr1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pehr, K., Moroz, B.
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<strong>Cutis marmorata telangiectatica congenita: Long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism.</strong>
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Pediat. Derm. 10: 6-11, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8493172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8493172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8493172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1525-1470.1993.tb00002.x" target="_blank">Full Text</a>]
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<a id="Petrozzi1970" class="mim-anchor"></a>
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Petrozzi, J. W., Rahn, E. K., Mofenson, H., Greensher, J.
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<strong>Cutis marmorata telangiectatica congenita.</strong>
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Arch. Derm. 101: 74-77, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Picascia, D. D., Esterly, N. B.
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<strong>Cutis marmorata telangiectatica congenita: report of 22 cases.</strong>
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J. Am. Acad. Derm. 20: 1098-1104, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2666459" 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/s0190-9622(89)70140-7" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Robinow1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robinow, M.
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<strong>Personal Communication.</strong>
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Dayton, Ohio 8/15/1985.
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<a id="Shields1990" class="mim-anchor"></a>
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Shields, J. A., Shields, C. L., Koller, H. P., Federman, J. L., Koblenzer, P., Barbera, L. S.
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<strong>Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment.</strong>
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Retina 10: 135-139, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2205894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2205894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2205894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00006982-199004000-00009" target="_blank">Full Text</a>]
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Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D.
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<strong>Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?</strong>
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Am. J. Med. Genet. 29: 269-276, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3354598" 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.1320290204" target="_blank">Full Text</a>]
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Torrelo, A., Zambrano, A., Happle, R.
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<strong>Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis.</strong>
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Brit. J. Derm. 148: 342-345, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2133.2003.05118.x" target="_blank">Full Text</a>]
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Van Lohuizen, C. H. J.
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<strong>Ueber eine seltene angeborene Haut-anomalie (Cutis marmorata telangiectatica congenita).</strong>
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Acta Derm. Venerol. 3: 202-211, 1922.
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Way, B. H., Herrmann, J., Gilbert, E. F., Johnson, S. A. M., Opitz, J. M.
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<strong>Cutis marmorata telangiectatica congenita.</strong>
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J. Cutan. Path. 1: 10-25, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4220056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4220056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4220056" 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.1600-0560.1974.tb00188.x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/29/2015
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Cassandra L. Kniffin - updated : 4/15/2009<br>Gary A. Bellus - updated : 5/20/2003<br>Gary A. Bellus - updated : 3/26/2003<br>John F. Jackson - updated : 5/19/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 03/24/2022
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carol : 11/26/2018<br>alopez : 07/30/2015<br>ckniffin : 7/29/2015<br>wwang : 9/4/2009<br>carol : 9/2/2009<br>wwang : 5/6/2009<br>ckniffin : 4/15/2009<br>alopez : 5/20/2003<br>alopez : 3/26/2003<br>alopez : 3/13/2001<br>terry : 6/11/1999<br>joanna : 5/19/1997<br>mark : 7/6/1995<br>davew : 6/1/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
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<strong>ORPHA:</strong> 1556;
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<p>Van Lohuizen (1922) described a child with livedo reticularis, telangiectases, and superficial ulceration. Way et al. (1974) found that all reported cases had been sporadic. Andreev and Pramatarov (1979) reported 2 adult sisters with CMTC. Onset was at birth in both. One developed hypertension at age 16 years. </p><p>Kurczynski (1982) described the case of a 4-year-old girl whose father and paternal grandmother were said to be identically affected in childhood with improvement by adulthood. Robinow (1985) saw 2 cases of CMTC in seemingly unrelated children of German ancestry living near each other in Ohio. </p><p>Shields et al. (1990) described a female child in whom CMTC was associated with congenital bilateral total retinal detachments and secondary neovascular glaucoma. Retinal detachments produced bilateral leukocoria simulating retinoblastoma. </p><p>In a report of a patient with CMTC who also had congenital hypothyroidism, Pehr and Moroz (1993) noted that two-thirds of patients with CMTC have other associated anomalies. Lingier et al. (1992) reported 4 cases with prominent phlebectasia. Dutkowsky et al. (1993) reported leg-length discrepancies, and Kennedy et al. (1992) noted that 2 patients had a short leg that was also thinner. They also reported associated tendinitis stenosans (stenosing tendinitis) and bowing of the lower legs. </p><p>Toriello et al. (1988) described CMTC in association with Adams-Oliver syndrome (100300). </p><p>Ben-Amitai et al. (2001) noted that fewer than 300 cases of CMTC had been reported in the world literature. The first association of CMTC with congenital anomalies, namely, Sturge-Weber syndrome (185300) and patent ductus arteriosus (607411), was described by Petrozzi et al. (1970). Associated malformations are thought to occur in approximately 20 to 40% of affected individuals (Picascia and Esterly, 1989; Devillers et al., 1999; Ben-Amitai et al., 2000). Ben-Amitai et al. (2001) reported the occurrence of hypospadias in 4 patients in a series of 52 Israeli males with CMTC (7.69%), which is more than 13 times the rate of isolated hypospadias in this population. Ben-Amitai et al. (2001) suggested that hypospadias may be an associated noncutaneous feature of CMTC. </p><p>Torrelo et al. (2003) reported 2 patients with an unusual association of extensive cutis marmorata telangiectatica congenita and aberrant mongolian spots. They asserted that this association is best explained as a phenomenon of nonallelic twin spotting and suggested that this condition may be a novel variant form of phacomatosis pigmentovascularis. </p><p>Hinek et al. (2008) reported a 16-month-old boy with CMTC and generalized vascular abnormalities. At birth, he had multiple bluish-red reticulated bands scattered over the entire skin surface and associated with ulcerations. Dilated veins over the face, scalp, and abdomen were also noted. After 2 to 3 months, the ulcerations had healed well, while the bluish-red reticulated marks and the dilated veins persisted. He had a retinal bleed at age 7 months, and showed developmental delay, seizures, and extensive periventricular white matter calcifications on brain imaging. At 14 months, he was found to have severe pulmonary hypertension with significant tricuspid insufficiency and right heart failure. An open lung biopsy demonstrated marked hyperplasia of medial smooth muscle and small pulmonary arteries. He died at age 20 months from persistent severe hypoxemia. Postmortem examination showed abnormal pulmonary arteries and veins, with irregular thick elastic lamina in the media. Laboratory studies showed increased blood copper levels. Studies of dermal fibroblasts from the patient showed normal tropoelastin (ELN; 130160) synthesis, but decreased deposition of mature elastic fibers that appeared to result from heightened elastolysis. Further studies indicated that the increased elastolysis was due to copper-dependent inactivation of alpha-1-antitrypsin (PI; 107400). The cells also produced more reactive oxygen species. Hinek et al. (2008) suggested that a high level of free copper in this patient was a major triggering factor contributing to the development of the CMTC phenotype. </p>
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<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the ARL6IP6 gene and cutis marmorata telangiectatica congenita, see 616495.0001.</p>
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<strong>REFERENCES</strong>
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Andreev, V. C., Pramatarov, K.
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<strong>Cutis marmorata telangiectatica congenita in two sisters.</strong>
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Brit. J. Derm. 101: 345-350, 1979.
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[PubMed: 508599]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.1979.tb05630.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ben-Amitai, D., Fichman, S., Merlob, P., Morad, Y., Lapidoth, M., Metzker, A.
|
|
<strong>Cutis marmorata telangiectatica congenita: clinical findings in 85 patients.</strong>
|
|
Pediat. Derm. 17: 100-104, 2000.
|
|
|
|
|
|
[PubMed: 10792796]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1525-1470.2000.01723.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ben-Amitai, D., Merlob, P., Metzker, A.
|
|
<strong>Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases.</strong>
|
|
J. Am. Acad. Derm. 45: 131-132, 2001.
|
|
|
|
|
|
[PubMed: 11423849]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1067/mjd.2001.112383]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Devillers, A. C. A., de Waard-van der Spek, F. B., Oranje, A. P.
|
|
<strong>Cutis marmorata telangiectatica congenita: clinical features in 35 cases.</strong>
|
|
Arch. Derm. 135: 34-38, 1999.
|
|
|
|
|
|
[PubMed: 9923778]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archderm.135.1.34]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dutkowsky, J. P., Kasser, J. R., Kaplan, L. C.
|
|
<strong>Leg length discrepancy associated with vivid cutis marmorata.</strong>
|
|
J. Pediatr. Orthop. 13: 456-458, 1993.
|
|
|
|
|
|
[PubMed: 8370779]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/01241398-199307000-00008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hinek, A., Jain, S., Taylor, G., Nykanen, D., Chitayat, D.
|
|
<strong>High copper levels and increased elastolysis in a patient with cutis marmorata telangiectasia congenita.</strong>
|
|
Am. J. Med. Genet. 146A: 2520-2527, 2008.
|
|
|
|
|
|
[PubMed: 18792971]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32474]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kennedy, C., Oranje, A. P., Keizer K., van den Heuvel, M. M., Catsman-Berrevoets, C. E.
|
|
<strong>Cutis marmorata telangiectatica congenita.</strong>
|
|
Int. J. Derm. 31: 249-252, 1992.
|
|
|
|
|
|
[PubMed: 1634290]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-4362.1992.tb03564.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kurczynski, T. W.
|
|
<strong>Hereditary cutis marmorata telangiectatica congenita.</strong>
|
|
Pediatrics 70: 52-53, 1982.
|
|
|
|
|
|
[PubMed: 7088633]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lingier, P., Munck, D., Godart S.
|
|
<strong>Cutis marmorata telangiectatica congenita. A propos de quatre nouveaux cas.</strong>
|
|
Phlebologie 45: 489-496, 1992.
|
|
|
|
|
|
[PubMed: 1302325]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
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|
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Pehr, K., Moroz, B.
|
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<strong>Cutis marmorata telangiectatica congenita: Long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism.</strong>
|
|
Pediat. Derm. 10: 6-11, 1993.
|
|
|
|
|
|
[PubMed: 8493172]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1525-1470.1993.tb00002.x]
|
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|
|
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|
|
|
|
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|
|
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|
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Petrozzi, J. W., Rahn, E. K., Mofenson, H., Greensher, J.
|
|
<strong>Cutis marmorata telangiectatica congenita.</strong>
|
|
Arch. Derm. 101: 74-77, 1970.
|
|
|
|
|
|
[PubMed: 5416798]
|
|
|
|
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|
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</p>
|
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</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
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Picascia, D. D., Esterly, N. B.
|
|
<strong>Cutis marmorata telangiectatica congenita: report of 22 cases.</strong>
|
|
J. Am. Acad. Derm. 20: 1098-1104, 1989.
|
|
|
|
|
|
[PubMed: 2666459]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0190-9622(89)70140-7]
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|
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</li>
|
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<p class="mim-text-font">
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Robinow, M.
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<strong>Personal Communication.</strong>
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Dayton, Ohio 8/15/1985.
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</p>
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</li>
|
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<li>
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Shields, J. A., Shields, C. L., Koller, H. P., Federman, J. L., Koblenzer, P., Barbera, L. S.
|
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<strong>Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment.</strong>
|
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Retina 10: 135-139, 1990.
|
|
|
|
|
|
[PubMed: 2205894]
|
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|
|
|
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[Full Text: https://doi.org/10.1097/00006982-199004000-00009]
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</li>
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Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D.
|
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<strong>Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?</strong>
|
|
Am. J. Med. Genet. 29: 269-276, 1988.
|
|
|
|
|
|
[PubMed: 3354598]
|
|
|
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|
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[Full Text: https://doi.org/10.1002/ajmg.1320290204]
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Torrelo, A., Zambrano, A., Happle, R.
|
|
<strong>Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis.</strong>
|
|
Brit. J. Derm. 148: 342-345, 2003.
|
|
|
|
|
|
[PubMed: 12588390]
|
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|
|
|
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[Full Text: https://doi.org/10.1046/j.1365-2133.2003.05118.x]
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</li>
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Van Lohuizen, C. H. J.
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<strong>Ueber eine seltene angeborene Haut-anomalie (Cutis marmorata telangiectatica congenita).</strong>
|
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Acta Derm. Venerol. 3: 202-211, 1922.
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</p>
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Way, B. H., Herrmann, J., Gilbert, E. F., Johnson, S. A. M., Opitz, J. M.
|
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<strong>Cutis marmorata telangiectatica congenita.</strong>
|
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J. Cutan. Path. 1: 10-25, 1974.
|
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[PubMed: 4220056]
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[Full Text: https://doi.org/10.1111/j.1600-0560.1974.tb00188.x]
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