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<meta name="keywords" content="C0432322, albopapuloid dominant dystrophic eb, albopapuloid dominant dystrophic epidermolysis bullosa, albopapuloid dystrophic epidermolysis bullosa of pasini, autosomal dominant dystrophic epidermolysis bullosa, autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types, autosomal dominant generalized dystrophic epidermolysis bullosa, col7a1, congenital abnormality, ddeb, ddeb, generalised, ddeb, generalized, ddeb, pasini and cockayne-touraine types, ddeb-gen, dominant dystrophic epidermolysis bullosa, dominant dystrophic epidermolysis bullosa of pasini, dominant dystrophic epidermolysis bullosa, albopapular type, dominant dystrophic epidermolysis bullosa, generalised, dominant dystrophic epidermolysis bullosa, generalized, dystrophic epidermolysis bullosa, autosomal dominant, ebdd, epidermolysis bullosa dystrophica with subcorneal cleavage, epidermolysis bullosa dystrophica, ad, epidermolysis bullosa dystrophica, autosomal dominant, epidermolysis bullosa dystrophica, cockayne-touraine type, epidermolysis bullosa dystrophica, cockayne-touraine type (formerly), epidermolysis bullosa dystrophica, pasini type, epidermolysis bullosa dystrophica, pasini type (formerly), generalized ddeb, generalized dominant dystrophic epidermolysis bullosa, 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 &quot;mitten&quot; 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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<title>Generalized dominant dystrophic epidermolysis bullosa (Concept Id: C0432322)
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<!--
UID=140935
ConceptID=C0432322
-->
<!--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">Generalized dominant dystrophic epidermolysis bullosa<span class="h1sub">(DDEB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140935</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0432322</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>DDEB; DDEB, generalized; DDEB-gen; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT; Epidermolysis bullosa dystrophica, autosomal dominant</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Dominant dystrophic epidermolysis bullosa of Pasini (75875004); Albopapuloid dystrophic epidermolysis bullosa of Pasini (75875004); Dominant dystrophic epidermolysis bullosa, albopapular type (75875004); Epidermolysis bullosa dystrophica, Pasini type (75875004)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<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)&#10;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_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:0007549" target="_blank">MONDO:0007549</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/131750" target="_blank">131750</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&amp;Expert=231568">ORPHA231568</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_descriptions">Additional descriptions</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 />Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features.&#13;
Epidermolysis bullosa simplex (see, e.g., 131800) and epidermolysis bullosa junctional (see, e.g., 226700) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively.  <a target="_blank" href="http://www.omim.org/entry/131750">http://www.omim.org/entry/131750</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems.<br /><br />Researchers classify dystrophic epidermolysis bullosa into major types based on the inheritance pattern and features of the condition. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene.<br /><br />Recessive dystrophic epidermolysis bullosa severe generalized (RDEB-sev gen) is the classic form of the condition and is the most severe. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma that occurs during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. Additional complications of ongoing scarring can include fusion of the skin between the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, people with RDEB-sev gen have a very high risk of developing a form of skin cancer called squamous cell carcinoma in young adulthood. In these individuals, the cancer tends to be unusually aggressive and is often life-threatening.<br /><br />Other types of recessive dystrophic epidermolysis bullosa fall along a spectrum referred to as RDEB-generalized and localized (RDEB-gen and -loc). These forms of the condition are somewhat less severe than RDEB-sev gen and are distinguished by the affected regions of the body. Blistering is often limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Rare forms affect specific regions of the body, such as the shins or the abdomen. Affected people often have malformed fingernails and toenails. The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen.<br /><br />Another major type of this condition is known as dominant dystrophic epidermolysis bullosa (DDEB). The signs and symptoms of this condition tend to be milder than those of the recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe than in recessive forms of this condition. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa">https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa</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)&#10;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)&#10;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_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)&#10;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_331737"><div><strong>Nail dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331737</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)&#10;Click for more information.">C1834405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The presence of developmental dysplasia of the nail.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331737">Feature record</a> | <a href="/medgen?term=%22Nail%20dysplasia%22%5BClinical%20Features%5D%20OR%20331737%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)&#10;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_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)&#10;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_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_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_331737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dysplasia</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_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_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=C0432322[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=140935">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140935" target="_blank" href="/omim/120120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1304/" ref="ncbi_uid=140935">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=140935" ref="ncbi_uid=140935">V</a></span></span><span class="TLline">Generalized dominant dystrophic epidermolysis bullosa</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">Generalized dominant dystrophic epidermolysis bullosa</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&amp;data_id=156&amp;PatId=19201&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Generalized dominant dystrophic epidermolysis bullosa</span> in Orphanet.</div></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/36287101">Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
Wei R,
Deng D,
Zhang X,
Cao Y,
Pan C,
Wang Y,
Cao Q,
Wang J,
Zeng M,
Huang L,
Gu Y,
Yao Z,
Li M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Feb;37(2):411-419.
Epub 2022 Nov 5
doi: 10.1111/jdv.18692.
<span class="bold">PMID: </span><a href="/pubmed/36287101" target="_blank">36287101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34687549">Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenblatt DT,
Pillay E,
Snelson K,
Saad R,
Torres Pradilla M,
Widhiati S,
Diem A,
Knight C,
Thompson K,
Azzopardi N,
Werkentoft M,
Moore Z,
Patton D,
Mayre-Chilton KM,
Murrell DF,
Mellerio JE</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
2022 Apr;186(4):620-632.
Epub 2021 Nov 25
doi: 10.1111/bjd.20809.
<span class="bold">PMID: </span><a href="/pubmed/34687549" target="_blank">34687549</a><a href="/pmc/articles/PMC9298908" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33202040">Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krämer S,
Lucas J,
Gamboa F,
Peñarrocha Diago M,
Peñarrocha Oltra D,
Guzmán-Letelier M,
Paul S,
Molina G,
Sepúlveda L,
Araya I,
Soto R,
Arriagada C,
Lucky AW,
Mellerio JE,
Cornwall R,
Alsayer F,
Schilke R,
Antal MA,
Castrillón F,
Paredes C,
Serrano MC,
Clark V</span><br />
<span class="medgenPMjournal">Spec Care Dentist</span>
2020 Nov;40 Suppl 1(Suppl 1):3-81.
doi: 10.1111/scd.12511.
<span class="bold">PMID: </span><a href="/pubmed/33202040" target="_blank">33202040</a><a href="/pmc/articles/PMC7756753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(generalized%20dominant%20dystrophic%20epidermolysis%20bullosa)%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 (22)</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/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/36689495">Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kern JS,
Sprecher E,
Fernandez MF,
Schauer F,
Bodemer C,
Cunningham T,
Löwe S,
Davis C,
Sumeray M,
Bruckner AL,
Murrell DF;
EASE investigators</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
2023 Jan 23;188(1):12-21.
doi: 10.1093/bjd/ljac001.
<span class="bold">PMID: </span><a href="/pubmed/36689495" target="_blank">36689495</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36287101">Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
Wei R,
Deng D,
Zhang X,
Cao Y,
Pan C,
Wang Y,
Cao Q,
Wang J,
Zeng M,
Huang L,
Gu Y,
Yao Z,
Li M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Feb;37(2):411-419.
Epub 2022 Nov 5
doi: 10.1111/jdv.18692.
<span class="bold">PMID: </span><a href="/pubmed/36287101" target="_blank">36287101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35686231">Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Polizzi A,
Santonocito S,
Patini R,
Quinzi V,
Mummolo S,
Leonardi R,
Bianchi A,
Isola G</span><br />
<span class="medgenPMjournal">Biomed Res Int</span>
2022;2022:6493156.
Epub 2022 May 31
doi: 10.1155/2022/6493156.
<span class="bold">PMID: </span><a href="/pubmed/35686231" target="_blank">35686231</a><a href="/pmc/articles/PMC9173894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33495183">Reverse oblique proximal femoral fracture in dystrophic epidermolysis bullosa: challenges and recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giannoudis VP,
Panteli M,
Aderinto J,
Giannoudis PV</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2021 Jan 25;14(1)
doi: 10.1136/bcr-2020-238483.
<span class="bold">PMID: </span><a href="/pubmed/33495183" target="_blank">33495183</a><a href="/pmc/articles/PMC7839884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa%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 (88)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37310095">Congenital membranous esophageal atresia with dystrophic epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kogata S,
Yamauchi K,
Kimura K,
Nakahata K,
Yonekura T</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2023 Jan-Dec;65(1):e15550.
doi: 10.1111/ped.15550.
<span class="bold">PMID: </span><a href="/pubmed/37310095" target="_blank">37310095</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36823529">Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liy-Wong C,
Tarango C,
Pope E,
Coates T,
Bruckner AL,
Feinstein JA,
Schwieger-Briel A,
Hubbard LD,
Jane C,
Torres-Pradilla M,
Zmazek M,
Lara-Corrales I</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2023 Feb 23;18(1):38.
doi: 10.1186/s13023-022-02448-w.
<span class="bold">PMID: </span><a href="/pubmed/36823529" target="_blank">36823529</a><a href="/pmc/articles/PMC9948325" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36287101">Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
Wei R,
Deng D,
Zhang X,
Cao Y,
Pan C,
Wang Y,
Cao Q,
Wang J,
Zeng M,
Huang L,
Gu Y,
Yao Z,
Li M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Feb;37(2):411-419.
Epub 2022 Nov 5
doi: 10.1111/jdv.18692.
<span class="bold">PMID: </span><a href="/pubmed/36287101" target="_blank">36287101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31065125">Dystrophic Epidermolysis Bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yadav RS,
Jayswal A,
Shrestha S,
Gupta SK,
Paudel U</span><br />
<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
2018 Sep-Oct;56(213):879-882.
doi: 10.31729/jnma.3791.
<span class="bold">PMID: </span><a href="/pubmed/31065125" target="_blank">31065125</a><a href="/pmc/articles/PMC8959359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25425313">Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nagai M,
Nagai H,
Tominaga C,
Sakaguchi Y,
Jitsukawa O,
Ohgo N,
Nishigori C,
Yamanishi K</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2015 May;95(5):629-31.
doi: 10.2340/00015555-2019.
<span class="bold">PMID: </span><a href="/pubmed/25425313" target="_blank">25425313</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa%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 (86)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36689495">Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kern JS,
Sprecher E,
Fernandez MF,
Schauer F,
Bodemer C,
Cunningham T,
Löwe S,
Davis C,
Sumeray M,
Bruckner AL,
Murrell DF;
EASE investigators</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
2023 Jan 23;188(1):12-21.
doi: 10.1093/bjd/ljac001.
<span class="bold">PMID: </span><a href="/pubmed/36689495" target="_blank">36689495</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33495183">Reverse oblique proximal femoral fracture in dystrophic epidermolysis bullosa: challenges and recommendations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giannoudis VP,
Panteli M,
Aderinto J,
Giannoudis PV</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2021 Jan 25;14(1)
doi: 10.1136/bcr-2020-238483.
<span class="bold">PMID: </span><a href="/pubmed/33495183" target="_blank">33495183</a><a href="/pmc/articles/PMC7839884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32888294">Cellular therapy options for genetic skin disorders with a focus on recessive dystrophic epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Naso G,
Petrova A</span><br />
<span class="medgenPMjournal">Br Med Bull</span>
2020 Dec 15;136(1):30-45.
doi: 10.1093/bmb/ldaa029.
<span class="bold">PMID: </span><a href="/pubmed/32888294" target="_blank">32888294</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,
Turczynski S,
Pironon N,
Hovnanian A</span><br />
<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>
<div class="nl"><a target="_blank" href="/pubmed/22454065">Antisense-mediated exon skipping to reframe transcripts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Turczynski S,
Titeux M,
Pironon N,
Hovnanian A</span><br />
<span class="medgenPMjournal">Methods Mol Biol</span>
2012;867:221-38.
doi: 10.1007/978-1-61779-767-5_15.
<span class="bold">PMID: </span><a href="/pubmed/22454065" target="_blank">22454065</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa%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 (39)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38763174">Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steinbeck BJ,
Gao XD,
McElroy AN,
Pandey S,
Doman JL,
Riddle MJ,
Xia L,
Chen W,
Eide CR,
Lengert AH,
Han SW,
Blazar BR,
Wandall HH,
Dabelsteen S,
Liu DR,
Tolar J,
Osborn MJ</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2024 Dec;144(12):2764-2777.e9.
Epub 2024 May 17
doi: 10.1016/j.jid.2024.04.013.
<span class="bold">PMID: </span><a href="/pubmed/38763174" target="_blank">38763174</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37452458">Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arline Diana I,
Tan EC,
Gondokaryono SP,
Koh MJ,
Dwiyana RF,
Rahardja JI,
Yogya Y,
Rafi'ee K,
Suwarsa O</span><br />
<span class="medgenPMjournal">Australas J Dermatol</span>
2023 Nov;64(4):e327-e332.
Epub 2023 Jul 14
doi: 10.1111/ajd.14121.
<span class="bold">PMID: </span><a href="/pubmed/37452458" target="_blank">37452458</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36812272">Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Merzel Šabović EK,
Luzar B,
Wechtersbach K,
Dolenc-Voljč M</span><br />
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
2022 Nov;30(3):151-156.
<span class="bold">PMID: </span><a href="/pubmed/36812272" target="_blank">36812272</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35686231">Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Polizzi A,
Santonocito S,
Patini R,
Quinzi V,
Mummolo S,
Leonardi R,
Bianchi A,
Isola G</span><br />
<span class="medgenPMjournal">Biomed Res Int</span>
2022;2022:6493156.
Epub 2022 May 31
doi: 10.1155/2022/6493156.
<span class="bold">PMID: </span><a href="/pubmed/35686231" target="_blank">35686231</a><a href="/pmc/articles/PMC9173894" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31453627">Unusual Bone Lesions with Osteonecrosis Mimicking Bone Metastasis of Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saito A,
Nakamura Y,
Tanaka R,
Inoue S,
Okiyama N,
Ishitsuka Y,
Maruyama H,
Watanabe R,
Yoshida K,
Ishiko A,
Fujimoto M,
Shinkuma S,
Fujisawa Y</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2019 Nov 1;99(12):1166-1169.
doi: 10.2340/00015555-3303.
<span class="bold">PMID: </span><a href="/pubmed/31453627" target="_blank">31453627</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38763174">Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steinbeck BJ,
Gao XD,
McElroy AN,
Pandey S,
Doman JL,
Riddle MJ,
Xia L,
Chen W,
Eide CR,
Lengert AH,
Han SW,
Blazar BR,
Wandall HH,
Dabelsteen S,
Liu DR,
Tolar J,
Osborn MJ</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2024 Dec;144(12):2764-2777.e9.
Epub 2024 May 17
doi: 10.1016/j.jid.2024.04.013.
<span class="bold">PMID: </span><a href="/pubmed/38763174" target="_blank">38763174</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36287101">Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
Wei R,
Deng D,
Zhang X,
Cao Y,
Pan C,
Wang Y,
Cao Q,
Wang J,
Zeng M,
Huang L,
Gu Y,
Yao Z,
Li M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2023 Feb;37(2):411-419.
Epub 2022 Nov 5
doi: 10.1111/jdv.18692.
<span class="bold">PMID: </span><a href="/pubmed/36287101" target="_blank">36287101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33849616">A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JY,
Marinkovich MP,
Lucas E,
Gorell E,
Chiou A,
Lu Y,
Gillon J,
Patel D,
Rudin D</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2021 Apr 13;16(1):175.
doi: 10.1186/s13023-021-01811-7.
<span class="bold">PMID: </span><a href="/pubmed/33849616" target="_blank">33849616</a><a href="/pmc/articles/PMC8045359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31453627">Unusual Bone Lesions with Osteonecrosis Mimicking Bone Metastasis of Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saito A,
Nakamura Y,
Tanaka R,
Inoue S,
Okiyama N,
Ishitsuka Y,
Maruyama H,
Watanabe R,
Yoshida K,
Ishiko A,
Fujimoto M,
Shinkuma S,
Fujisawa Y</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2019 Nov 1;99(12):1166-1169.
doi: 10.2340/00015555-3303.
<span class="bold">PMID: </span><a href="/pubmed/31453627" target="_blank">31453627</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26899947">Collagen VII Half-Life at the Dermal-Epidermal Junction Zone: Implications for Mechanisms and Therapy of Genodermatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kühl T,
Mezger M,
Hausser I,
Guey LT,
Handgretinger R,
Bruckner-Tuderman L,
Nyström A</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2016 Jun;136(6):1116-1123.
Epub 2016 Feb 18
doi: 10.1016/j.jid.2016.02.002.
<span class="bold">PMID: </span><a href="/pubmed/26899947" target="_blank">26899947</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa%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 (65)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36657040">Dupilumab in the treatment of genodermatosis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PC,
Dai YX,
Li CL,
Chen CC,
Chang YT,
Ma SH</span><br />
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
2023 Jan;21(1):7-17.
Epub 2023 Jan 19
doi: 10.1111/ddg.14924.
<span class="bold">PMID: </span><a href="/pubmed/36657040" target="_blank">36657040</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33849616">A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang JY,
Marinkovich MP,
Lucas E,
Gorell E,
Chiou A,
Lu Y,
Gillon J,
Patel D,
Rudin D</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2021 Apr 13;16(1):175.
doi: 10.1186/s13023-021-01811-7.
<span class="bold">PMID: </span><a href="/pubmed/33849616" target="_blank">33849616</a><a href="/pmc/articles/PMC8045359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33202040">Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krämer S,
Lucas J,
Gamboa F,
Peñarrocha Diago M,
Peñarrocha Oltra D,
Guzmán-Letelier M,
Paul S,
Molina G,
Sepúlveda L,
Araya I,
Soto R,
Arriagada C,
Lucky AW,
Mellerio JE,
Cornwall R,
Alsayer F,
Schilke R,
Antal MA,
Castrillón F,
Paredes C,
Serrano MC,
Clark V</span><br />
<span class="medgenPMjournal">Spec Care Dentist</span>
2020 Nov;40 Suppl 1(Suppl 1):3-81.
doi: 10.1111/scd.12511.
<span class="bold">PMID: </span><a href="/pubmed/33202040" target="_blank">33202040</a><a href="/pmc/articles/PMC7756753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27544590">Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Montaudié H,
Chiaverini C,
Sbidian E,
Charlesworth A,
Lacour JP</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2016 Aug 20;11(1):117.
doi: 10.1186/s13023-016-0489-9.
<span class="bold">PMID: </span><a href="/pubmed/27544590" target="_blank">27544590</a><a href="/pmc/articles/PMC4992553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0432322%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
<li><a href="/gtr/tests?term=C0432322%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
<li><a href="/gtr/tests?term=C0432322%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0432322%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=131750" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=231568" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epidermolysis_bullosa_dystrophica_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Generalized%20dominant%20dystrophic%20epidermolysis%20bullosa" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2139/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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