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<meta name="keywords" content="C1851573, col7a1, deb, bullous dermolysis of the newborn, deb-bdn, disease or syndrome, dystrophic epidermolysis bullosa, dominant neonatal, dystrophic epidermolysis bullosa, neonatal, epidermolysis bullosa dystrophica, dominant neonatal form, epidermolysis bullosa dystrophica, neonatal form, mondon, self-improving deb, self-improving dystrophic epidermolysis bullosa, tbdn, transient bullous dermolysis of newborn, transient bullous dermolysis of the newborn, transient bullous of the newborn, 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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<!--
|
||
UID=343607
|
||
ConceptID=C1851573
|
||
-->
|
||
<!--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">Transient bullous dermolysis of the newborn<span class="h1sub">(TBDN)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343607</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."><span class="highlight" style="background-color:">C1851573</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL; Epidermolysis bullosa dystrophica, dominant neonatal form; EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM; TBDN</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Transient bullous dermolysis of newborn (723553000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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:0007548" target="_blank">MONDO:0007548</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/131705" target="_blank">131705</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79411">ORPHA79411</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">
|
||
<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 />Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by Fassihi et al., 2005). <a target="_blank" href="http://www.omim.org/entry/131705">http://www.omim.org/entry/131705</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_57875"><div><strong>Atrophic scars</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57875</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.">C0162154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57875">Feature record</a> | <a href="/medgen?term=%22Atrophic%20scars%22%5BClinical%20Features%5D%20OR%2057875%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_87528"><div><strong>Milia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87528</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.">C0345996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87528">Feature record</a> | <a href="/medgen?term=%22Milia%22%5BClinical%20Features%5D%20OR%2087528%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="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_57875" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophic scars</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_87528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Milia</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></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851573[DISCUI]&test_type=Clinical" ref="ncbi_uid=343607">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343607" target="_blank" href="/omim/120120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1304/" ref="ncbi_uid=343607">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343607" ref="ncbi_uid=343607">V</a></span></span><span class="TLline">Transient bullous dermolysis of the newborn</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="TLline"><a href="/medgen/41832" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa">Epidermolysis bullosa</a></span><ul><li><span class="TLline"><a href="/medgen/37179" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa dystrophica">Epidermolysis bullosa dystrophica</a></span><ul><li><span class="matched_ds">Transient bullous dermolysis of the newborn</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11437&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Transient bullous dermolysis of the newborn</span> in Orphanet.</div></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/38415502">Self-improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsai YC,
|
||
Tu WT,
|
||
Su CL,
|
||
Cheng YW,
|
||
Chi PL,
|
||
Hsu CK,
|
||
Chen YY</span><br />
|
||
<span class="medgenPMjournal">Wound Repair Regen</span>
|
||
2024 Jul-Aug;32(4):511-516.
|
||
Epub 2024 Feb 28
|
||
doi: 10.1111/wrr.13159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38415502" target="_blank">38415502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9856844">Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammami-Hauasli N,
|
||
Raghunath M,
|
||
Küster W,
|
||
Bruckner-Tuderman L</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1998 Dec;111(6):1214-9.
|
||
doi: 10.1046/j.1523-1747.1998.00394.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9856844" target="_blank">9856844</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transient%20bullous%20dermolysis%20of%20the%20newborn%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 (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25800346">Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi BJ,
|
||
Zhu XJ,
|
||
Liu Y,
|
||
Hao J,
|
||
Yan GF,
|
||
Wang SP,
|
||
Wang XY,
|
||
Diao QC</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2015 Apr;54(4):438-42.
|
||
doi: 10.1111/ijd.12704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25800346" target="_blank">25800346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21514494">Uncharacteristic bullous lesions on a newborn: what's your diagnosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppenheimer J,
|
||
Hallas D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Health Care</span>
|
||
2011 May-Jun;25(3):186-90.
|
||
Epub 2010 Dec 18
|
||
doi: 10.1016/j.pedhc.2010.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21514494" target="_blank">21514494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10071321">Three new cases of transient bullous dermolysis of the newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanson SG,
|
||
Fine JD,
|
||
Levy ML</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1999 Mar;40(3):471-6.
|
||
doi: 10.1016/s0190-9622(99)70500-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10071321" target="_blank">10071321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9856844">Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammami-Hauasli N,
|
||
Raghunath M,
|
||
Küster W,
|
||
Bruckner-Tuderman L</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1998 Dec;111(6):1214-9.
|
||
doi: 10.1046/j.1523-1747.1998.00394.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9856844" target="_blank">9856844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3901931">Transient bullous dermolysis of the newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto K,
|
||
Matsumoto M,
|
||
Iacobelli D</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1985 Nov;121(11):1429-38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3901931" target="_blank">3901931</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transient%20bullous%20dermolysis%20of%20the%20newborn%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 (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/1331730">Wilms' tumor with transient dermolysis of the newborn: recurrence of skin lesions during chemotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patrizi A,
|
||
Pauluzzi P,
|
||
Vecchi V,
|
||
Mancini AF</span><br />
|
||
<span class="medgenPMjournal">Med Pediatr Oncol</span>
|
||
1992;20(6):535-6.
|
||
doi: 10.1002/mpo.2950200609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1331730" target="_blank">1331730</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transient%20bullous%20dermolysis%20of%20the%20newborn%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25800346">Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi BJ,
|
||
Zhu XJ,
|
||
Liu Y,
|
||
Hao J,
|
||
Yan GF,
|
||
Wang SP,
|
||
Wang XY,
|
||
Diao QC</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2015 Apr;54(4):438-42.
|
||
doi: 10.1111/ijd.12704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25800346" target="_blank">25800346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16225626">Transient bullous dermolysis of the newborn in three generations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fassihi H,
|
||
Diba VC,
|
||
Wessagowit V,
|
||
Dopping-Hepenstal PJ,
|
||
Jones CA,
|
||
Burrows NP,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2005 Nov;153(5):1058-63.
|
||
doi: 10.1111/j.1365-2133.2005.06873.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16225626" target="_blank">16225626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10071321">Three new cases of transient bullous dermolysis of the newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanson SG,
|
||
Fine JD,
|
||
Levy ML</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1999 Mar;40(3):471-6.
|
||
doi: 10.1016/s0190-9622(99)70500-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10071321" target="_blank">10071321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9856844">Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammami-Hauasli N,
|
||
Raghunath M,
|
||
Küster W,
|
||
Bruckner-Tuderman L</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1998 Dec;111(6):1214-9.
|
||
doi: 10.1046/j.1523-1747.1998.00394.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9856844" target="_blank">9856844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9406826">Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christiano AM,
|
||
Fine JD,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1997 Dec;109(6):811-4.
|
||
doi: 10.1111/1523-1747.ep12341013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9406826" target="_blank">9406826</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transient%20bullous%20dermolysis%20of%20the%20newborn%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25800346">Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi BJ,
|
||
Zhu XJ,
|
||
Liu Y,
|
||
Hao J,
|
||
Yan GF,
|
||
Wang SP,
|
||
Wang XY,
|
||
Diao QC</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2015 Apr;54(4):438-42.
|
||
doi: 10.1111/ijd.12704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25800346" target="_blank">25800346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9406826">Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christiano AM,
|
||
Fine JD,
|
||
Uitto J</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1997 Dec;109(6):811-4.
|
||
doi: 10.1111/1523-1747.ep12341013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9406826" target="_blank">9406826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1487571">Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto K,
|
||
Eng AM</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
1992 Dec;19(6):496-501.
|
||
doi: 10.1111/j.1600-0560.1992.tb01603.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1487571" target="_blank">1487571</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transient%20bullous%20dermolysis%20of%20the%20newborn%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 (3)</a></div></div>
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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=C1851573%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851573%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C1851573%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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