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<meta name="keywords" content="C0268371, col7a1, congenital abnormality, dominant dystrophic epidermolysis bullosa with absence of skin, ebd, bart type, epidermolysis bullosa dystrophica, bart type, epidermolysis bullosa with congenital localized absence of skin and deformity of nails, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=82797
|
||
ConceptID=C0268371
|
||
-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1304/bin/ebd-Image001.gif" src-large="/books/NBK1304/bin/ebd-Image001.jpg" /></a><br /><a href="/books/NBK1304/figure/ebd.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Dominant dystrophic epidermolysis bullosa with absence of skin</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82797</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE; EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Dominant dystrophic epidermolysis bullosa with absence of skin (2689001); Epidermolysis bullosa dystrophica, Bart type (2689001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="COL7A1 - ID: 1294 - NCBI Gene" href="/gene/1294" class="medgenPMinfo">COL7A1</a> (3p21.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007557" target="_blank">MONDO:0007557</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/132000" target="_blank">132000</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1304" target="_blank">Dystrophic Epidermolysis Bullosa</a></div><div>Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1304#ebd.Summary" target="NBK1304">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.GeneReview_Scope" target="NBK1304">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Diagnosis" target="NBK1304">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Clinical_Characteristics" target="NBK1304">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Genetically_Related_Allelic_Disorder" target="NBK1304">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Differential_Diagnosis" target="NBK1304">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Management" target="NBK1304">Management</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Genetic_Counseling" target="NBK1304">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Resources" target="NBK1304">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Molecular_Genetics" target="NBK1304">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.References" target="NBK1304">References</a> | <a class="medgenPMinfo" href="/books/NBK1304#ebd.Chapter_Notes" target="NBK1304">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ellen G Pfendner | Anne W Lucky <a href="/books/NBK1304" target="NBK1304" title="NCBI Bookshelf: Dystrophic Epidermolysis Bullosa">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Bart syndrome consists of congenital localized absence of skin, blistering, and nail absence, shedding, or deformity (summary by Zelickson et al., 1995). <a target="_blank" href="http://www.omim.org/entry/132000">http://www.omim.org/entry/132000</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66826"><div><strong>Fragile skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66826</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skin that splits easily with minimal injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66826">Feature record</a> | <a href="/medgen?term=%22Fragile%20skin%22%5BClinical%20Features%5D%20OR%2066826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208888"><div><strong>Oral mucosal blisters</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0853945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blisters arising in the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208888">Feature record</a> | <a href="/medgen?term=%22Oral%20mucosal%20blisters%22%5BClinical%20Features%5D%20OR%20208888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_412159"><div><strong>Abnormal blistering of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412159</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2132198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412159">Feature record</a> | <a href="/medgen?term=%22Abnormal%20blistering%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20412159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_388677"><div><strong>Congenital localized absence of skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388677</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673597</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388677">Feature record</a> | <a href="/medgen?term=%22Congenital%20localized%20absence%20of%20skin%22%5BClinical%20Features%5D%20OR%20388677%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1778332"><div><strong>Sub-lamina densa cleavage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778332</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5539822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of blistering in which the cleavage plane of blisters is located below the lamina densa.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778332">Feature record</a> | <a href="/medgen?term=%22Sub-lamina%20densa%20cleavage%22%5BClinical%20Features%5D%20OR%201778332%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_412159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal blistering of the skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388677" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital localized absence of skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile skin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral mucosal blisters</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1778332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sub-lamina densa cleavage</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32506467">Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariath LM,
|
||
Santin JT,
|
||
Frantz JA,
|
||
Doriqui MJR,
|
||
Schuler-Faccini L,
|
||
Kiszewski AE</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Jan;99(1):29-41.
|
||
Epub 2020 Jun 29
|
||
doi: 10.1111/cge.13792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32506467" target="_blank">32506467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19665875">Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Akker PC,
|
||
van Essen AJ,
|
||
Kraak MM,
|
||
Meijer R,
|
||
Nijenhuis M,
|
||
Meijer G,
|
||
Hofstra RM,
|
||
Pas HH,
|
||
Scheffer H,
|
||
Jonkman MF</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2009 Oct;56(1):9-18.
|
||
Epub 2009 Aug 8
|
||
doi: 10.1016/j.jdermsci.2009.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19665875" target="_blank">19665875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8726631">Heterogeneous reactivity with LH7.2 and the first prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa among Japanese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimizu H,
|
||
Suzumori K,
|
||
Nishikawa T</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1996;192(3):203-7.
|
||
doi: 10.1159/000246366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8726631" target="_blank">8726631</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36901775">COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liemberger B,
|
||
Bischof J,
|
||
Ablinger M,
|
||
Hainzl S,
|
||
Murauer EM,
|
||
Lackner N,
|
||
Ebner P,
|
||
Kocher T,
|
||
Nyström A,
|
||
Wally V,
|
||
Mayr E,
|
||
Guttmann-Gruber C,
|
||
Hofbauer JP,
|
||
Bauer JW,
|
||
Koller U</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Feb 22;24(5)
|
||
doi: 10.3390/ijms24054341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36901775" target="_blank">36901775</a><a href="/pmc/articles/PMC10002491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34884578">Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Alshehri F,
|
||
Manzanares D,
|
||
Li Y,
|
||
He Z,
|
||
Qiu B,
|
||
Zeng M,
|
||
A S,
|
||
Lara-Sáez I,
|
||
Wang W</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Nov 26;22(23)
|
||
doi: 10.3390/ijms222312774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34884578" target="_blank">34884578</a><a href="/pmc/articles/PMC8657908" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34338359">Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawka E,
|
||
Funk T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2021 Sep;38(5):1251-1254.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1111/pde.14727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34338359" target="_blank">34338359</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29203033">Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boria F,
|
||
Maseda R,
|
||
Martín-Cameán M,
|
||
De la Calle M,
|
||
de Lucas R</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr (Engl Ed)</span>
|
||
2019 Jan-Feb;110(1):50-52.
|
||
Epub 2017 Dec 6
|
||
doi: 10.1016/j.ad.2017.06.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29203033" target="_blank">29203033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6649087">Ultrastructural features of epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanna W,
|
||
Silverman E,
|
||
Boxall L,
|
||
Krafchik BR</span><br />
|
||
<span class="medgenPMjournal">Ultrastruct Pathol</span>
|
||
1983 Jul;5(1):29-36.
|
||
doi: 10.3109/01913128309141816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6649087" target="_blank">6649087</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37598075">Congenital localized absence of skin (Bart syndrome) in a patient with dominant dystrophic epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramos FJM,
|
||
Corpas TD,
|
||
Corrales AE,
|
||
Puchades AM</span><br />
|
||
<span class="medgenPMjournal">An Pediatr (Engl Ed)</span>
|
||
2023 Dec;99(6):447-448.
|
||
Epub 2023 Aug 17
|
||
doi: 10.1016/j.anpede.2023.04.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37598075" target="_blank">37598075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35967298">Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Zenzo G,
|
||
Floriddia G,
|
||
Rossi S,
|
||
Mariotti F,
|
||
Primerano A,
|
||
Condorelli AG,
|
||
Didona B,
|
||
Castiglia D</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:929286.
|
||
Epub 2022 Jul 29
|
||
doi: 10.3389/fimmu.2022.929286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35967298" target="_blank">35967298</a><a href="/pmc/articles/PMC9374178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34338359">Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawka E,
|
||
Funk T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2021 Sep;38(5):1251-1254.
|
||
Epub 2021 Aug 2
|
||
doi: 10.1111/pde.14727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34338359" target="_blank">34338359</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32686866">Epidermolysis bullosa with congenital absence of skin: Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Moreno A,
|
||
Ocampo-Candiani J,
|
||
Alba-Rojas E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2020 Sep;37(5):821-826.
|
||
Epub 2020 Jul 20
|
||
doi: 10.1111/pde.14245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32686866" target="_blank">32686866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9267744">Epidermolysis bullosa pruriginosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cambiaghi S,
|
||
Brusasco A,
|
||
Restano L,
|
||
Cavalli R,
|
||
Tadini G</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1997;195(1):65-8.
|
||
doi: 10.1159/000245691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9267744" target="_blank">9267744</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34884578">Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Alshehri F,
|
||
Manzanares D,
|
||
Li Y,
|
||
He Z,
|
||
Qiu B,
|
||
Zeng M,
|
||
A S,
|
||
Lara-Sáez I,
|
||
Wang W</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Nov 26;22(23)
|
||
doi: 10.3390/ijms222312774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34884578" target="_blank">34884578</a><a href="/pmc/articles/PMC8657908" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30171566">Antisense-Mediated Splice Modulation to Reframe Transcripts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Titeux M,
|
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Turczynski S,
|
||
Pironon N,
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Hovnanian A</span><br />
|
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<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2018;1828:531-552.
|
||
doi: 10.1007/978-1-4939-8651-4_35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30171566" target="_blank">30171566</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/29722429">Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Z,
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Bu W,
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Epub 2018 May 3
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<span class="bold">PMID: </span><a href="/pubmed/29722429" target="_blank">29722429</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22454065">Antisense-mediated exon skipping to reframe transcripts.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Turczynski S,
|
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Titeux M,
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<span class="bold">PMID: </span><a href="/pubmed/22454065" target="_blank">22454065</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10583180">Crusted (Norwegian) scabies in a patient with dystrophic epidermolysis bullosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Van Der Wal VB,
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Van Voorst Vader PC,
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Mandema JM,
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Jonkman MF</span><br />
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35967298">Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Di Zenzo G,
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Floriddia G,
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Rossi S,
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Mariotti F,
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Primerano A,
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Epub 2022 Jul 29
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doi: 10.3389/fimmu.2022.929286.
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<span class="bold">PMID: </span><a href="/pubmed/35967298" target="_blank">35967298</a><a href="/pmc/articles/PMC9374178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35779740">Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chacón-Solano E,
|
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León C,
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Carretero M,
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García M,
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Sánchez-Domínguez R,
|
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Quero F,
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Méndez-Jiménez E,
|
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Bonafont J,
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Ruiz-Mezcua B,
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Escámez MJ,
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Larcher F,
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Del Río M</span><br />
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<span class="medgenPMjournal">Matrix Biol</span>
|
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2022 Aug;111:189-206.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1016/j.matbio.2022.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35779740" target="_blank">35779740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32686866">Epidermolysis bullosa with congenital absence of skin: Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Moreno A,
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Ocampo-Candiani J,
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Alba-Rojas E</span><br />
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<span class="medgenPMjournal">Pediatr Dermatol</span>
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2020 Sep;37(5):821-826.
|
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Epub 2020 Jul 20
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||
doi: 10.1111/pde.14245.
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<span class="bold">PMID: </span><a href="/pubmed/32686866" target="_blank">32686866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19665875">Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">van den Akker PC,
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van Essen AJ,
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Kraak MM,
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Meijer R,
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Nijenhuis M,
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Meijer G,
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2009 Oct;56(1):9-18.
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<span class="bold">PMID: </span><a href="/pubmed/19665875" target="_blank">19665875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6649087">Ultrastructural features of epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanna W,
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Silverman E,
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Boxall L,
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Krafchik BR</span><br />
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<span class="medgenPMjournal">Ultrastruct Pathol</span>
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1983 Jul;5(1):29-36.
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<span class="bold">PMID: </span><a href="/pubmed/6649087" target="_blank">6649087</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35779740">Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chacón-Solano E,
|
||
León C,
|
||
Carretero M,
|
||
García M,
|
||
Sánchez-Domínguez R,
|
||
Quero F,
|
||
Méndez-Jiménez E,
|
||
Bonafont J,
|
||
Ruiz-Mezcua B,
|
||
Escámez MJ,
|
||
Larcher F,
|
||
Del Río M</span><br />
|
||
<span class="medgenPMjournal">Matrix Biol</span>
|
||
2022 Aug;111:189-206.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1016/j.matbio.2022.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35779740" target="_blank">35779740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34990346">A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Wang L</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2021 Dec;29(3):164-166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34990346" target="_blank">34990346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19665875">Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Akker PC,
|
||
van Essen AJ,
|
||
Kraak MM,
|
||
Meijer R,
|
||
Nijenhuis M,
|
||
Meijer G,
|
||
Hofstra RM,
|
||
Pas HH,
|
||
Scheffer H,
|
||
Jonkman MF</span><br />
|
||
<span class="medgenPMjournal">J Dermatol Sci</span>
|
||
2009 Oct;56(1):9-18.
|
||
Epub 2009 Aug 8
|
||
doi: 10.1016/j.jdermsci.2009.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19665875" target="_blank">19665875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9326325">Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hovnanian A,
|
||
Rochat A,
|
||
Bodemer C,
|
||
Petit E,
|
||
Rivers CA,
|
||
Prost C,
|
||
Fraitag S,
|
||
Christiano AM,
|
||
Uitto J,
|
||
Lathrop M,
|
||
Barrandon Y,
|
||
de Prost Y</span><br />
|
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
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1997 Sep;61(3):599-610.
|
||
doi: 10.1086/515495.
|
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<span class="bold">PMID: </span><a href="/pubmed/9326325" target="_blank">9326325</a><a href="/pmc/articles/PMC1715975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1151111">Epidermolysis bullosa dystrophica-recessive: a possible role of anchoring fibrils in the pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Briggaman RA,
|
||
Wheeler CE Jr</span><br />
|
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<span class="medgenPMjournal">J Invest Dermatol</span>
|
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1975 Aug;65(2):203-11.
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|
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<span class="bold">PMID: </span><a href="/pubmed/1151111" target="_blank">1151111</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268371%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268371%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268371%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268371%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=120120" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1294[geneid]" target="_blank">View COL7A1 variations in ClinVar</a></li><li><a href="/nuccore/160358345" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=132000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epidermolysis_bullosa_with_congenital_localized_absence_of_skin_and_deformity_of_nails" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Dominant%20dystrophic%20epidermolysis%20bullosa%20with%20absence%20of%20skin" target="_blank">MedlinePlus</a></li></ul></div>
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<h3>Reviews</h3>
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