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<meta name="keywords" content="C0079301, congenital junctional epidermolysis bullosa, disease or syndrome, ebj, epidermolysis bullosa atrophicans, epidermolysis bullosa hereditaria letalis, epidermolysis bullosa junctionalis, disentis type, epidermolysis bullosa junctionalis, severe nonlethal, epidermolysis bullosa, generalized atrophic benign, epidermolysis bullosa, junctional, jeb, junctional 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="Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=86898
|
||
ConceptID=C0079301
|
||
-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1125/bin/ebj-Image002.gif" src-large="/books/NBK1125/bin/ebj-Image002.jpg" /></a><br /><a href="/books/NBK1125/figure/ebj.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1125/bin/ebj-Image001.gif" src-large="/books/NBK1125/bin/ebj-Image001.jpg" /></a><br /><a href="/books/NBK1125/figure/ebj.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Junctional epidermolysis bullosa</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86898</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:">C0079301</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>Epidermolysis Bullosa Junctionalis, Disentis Type; Epidermolysis Bullosa Junctionalis, Severe Nonlethal; Epidermolysis Bullosa, Generalized Atrophic Benign; Epidermolysis Bullosa, Junctional; Junctional Epidermolysis Bullosa</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital junctional epidermolysis bullosa (79855003); Junctional epidermolysis bullosa (399971009)</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="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></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/3918">LAMC2</a>, <a target="_blank" href="/gene/3914">LAMB3</a>, <a target="_blank" href="/gene/3909">LAMA3</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017612" target="_blank">MONDO:0017612</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/226650" target="_blank">226650</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS226650" target="_blank">PS226650</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=305">ORPHA305</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>
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<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/NBK1125" target="_blank">Junctional Epidermolysis Bullosa</a></div><div>Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. [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/NBK1125#ebj.Summary" target="NBK1125">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Diagnosis" target="NBK1125">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Clinical_Characteristics" target="NBK1125">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Genetically_Related_Allelic_Disorder" target="NBK1125">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Differential_Diagnosis" target="NBK1125">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Management" target="NBK1125">Management</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Genetic_Counseling" target="NBK1125">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Resources" target="NBK1125">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Molecular_Genetics" target="NBK1125">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.References" target="NBK1125">References</a> | <a class="medgenPMinfo" href="/books/NBK1125#ebj.Chapter_Notes" target="NBK1125">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ellen G Pfendner | Anne W Lucky <a href="/books/NBK1125" target="NBK1125" title="NCBI Bookshelf: Junctional 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 MedlinePlus Genetics</strong><br />Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes.<br /><br />JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.<br /><br />The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.<br /><br />Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life. <a target="_blank" href="https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa">https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa</a></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=C0079301[DISCUI]&test_type=Clinical" ref="ncbi_uid=86898">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=86898" target="_blank" href="/omim/226650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1125/" ref="ncbi_uid=86898">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=86898" ref="ncbi_uid=86898">V</a></span></span><span class="TLline">Junctional epidermolysis bullosa</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079683[DISCUI]&test_type=Clinical" ref="ncbi_uid=36328">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=36328" target="_blank" href="/omim/150310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1125/" ref="ncbi_uid=36328">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=36328" ref="ncbi_uid=36328">V</a></span></span><span class="TLline"><a href="/medgen/36328" ref="tree=GTR&ncbi_uid=36328&link_uid=36328" title="View MedGen record for 'Junctional epidermolysis bullosa gravis of Herlitz'">Junctional epidermolysis bullosa gravis of Herlitz</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268374[DISCUI]&test_type=Clinical" ref="ncbi_uid=82798">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82798" target="_blank" href="/omim/150310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1125%20OR%20NBK1304)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=82798">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82798" ref="ncbi_uid=82798">V</a></span></span><span class="TLline"><a href="/medgen/82798" ref="tree=GTR&ncbi_uid=82798&link_uid=82798" title="View MedGen record for 'Junctional epidermolysis bullosa, non-Herlitz type'">Junctional epidermolysis bullosa, non-Herlitz type</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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="matched_ds">Junctional epidermolysis bullosa</span><ul><li><span class="TLline"><a href="/medgen/1388385" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome">Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/384018" ref="tree=MeSH" title="MedGen record for Epidermolysis Bullosa, Junctional, with Pyloric Atresia">Epidermolysis Bullosa, Junctional, with Pyloric Atresia</a></span></li><li><span class="TLline"><a href="/medgen/609458" ref="tree=MeSH" title="MedGen record for Generalized junctional epidermolysis bullosa non-Herlitz type">Generalized junctional epidermolysis bullosa non-Herlitz type</a></span></li><li><span class="TLline"><a href="/medgen/36328" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa gravis of Herlitz">Junctional epidermolysis bullosa gravis of Herlitz</a></span></li><li><span class="TLline"><a href="/medgen/382142" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa inversa">Junctional epidermolysis bullosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/1810975" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></span></li><li><span class="TLline"><a href="/medgen/82798" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa, non-Herlitz type">Junctional epidermolysis bullosa, non-Herlitz type</a></span></li><li><span class="TLline"><a href="/medgen/272227" ref="tree=MeSH" title="MedGen record for Laryngo-onycho-cutaneous syndrome">Laryngo-onycho-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930393" ref="tree=MeSH" title="MedGen record for Late-onset junctional epidermolysis bullosa">Late-onset junctional epidermolysis bullosa</a></span></li><li><span class="TLline"><a href="/medgen/341663" ref="tree=MeSH" title="MedGen record for Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome">Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814511" ref="tree=MeSH" title="MedGen record for Localized junctional epidermolysis bullosa, non-Herlitz type">Localized junctional epidermolysis bullosa, non-Herlitz type</a></span></li></ul></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=8622&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Junctional 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/38157931">Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wen D,
|
||
Hunjan M,
|
||
Bardhan A,
|
||
Harper N,
|
||
Ogboli M,
|
||
Ozoemena L,
|
||
Liu L,
|
||
Fine JD,
|
||
Chapple I,
|
||
Balacco DL,
|
||
Heagerty A</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2024 Jun;144(6):1334-1343.e14.
|
||
Epub 2023 Dec 28
|
||
doi: 10.1016/j.jid.2023.11.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38157931" target="_blank">38157931</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/25117154">Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang CS,
|
||
Kroshinksy D,
|
||
Cummings BM</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2014 Oct;15(5):445-50.
|
||
doi: 10.1007/s40257-014-0091-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25117154" target="_blank">25117154</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22junctional%20epidermolysis%20bullosa%22%5Btiab%3A~0%5D)%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 (20)</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/36074321">Eye Involvement and Management in Inherited Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachir Y,
|
||
Daruich A,
|
||
Marie C,
|
||
Robert MP,
|
||
Bremond-Gignac D</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2022 Aug;82(12):1277-1285.
|
||
Epub 2022 Sep 8
|
||
doi: 10.1007/s40265-022-01770-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36074321" target="_blank">36074321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34036913">Epidermolysis Bullosa: Pediatric Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hon KL,
|
||
Chu S,
|
||
Leung AKC</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2022;18(3):182-190.
|
||
doi: 10.2174/1573396317666210525161252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34036913" target="_blank">34036913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32732072">Inherited epidermolysis bullosa: update on the clinical and genetic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariath LM,
|
||
Santin JT,
|
||
Schuler-Faccini L,
|
||
Kiszewski AE</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2020 Sep-Oct;95(5):551-569.
|
||
Epub 2020 Jul 8
|
||
doi: 10.1016/j.abd.2020.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32732072" target="_blank">32732072</a><a href="/pmc/articles/PMC7563003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12677429">Japanese guidelines for diagnosis and treatment of junctional and dystrophic epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tamai K,
|
||
Hashimoto I,
|
||
Hanada K,
|
||
Ikeda S,
|
||
Imamura S,
|
||
Ogawa H;
|
||
Japanese Study Group for Rare Intractable Skin Diseases</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol Res</span>
|
||
2003 Apr;295 Suppl 1:S24-8.
|
||
Epub 2003 Mar 11
|
||
doi: 10.1007/s00403-002-0379-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12677429" target="_blank">12677429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2818285">Eye involvement in junctional epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDonnell PJ,
|
||
Schofield OM,
|
||
Spalton DJ,
|
||
Eady RA</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1989 Nov;107(11):1635-7.
|
||
doi: 10.1001/archopht.1989.01070020713034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2818285" target="_blank">2818285</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%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 (142)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37638011">Autoimmunity against laminin 332.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patzelt S,
|
||
Schmidt E</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1250115.
|
||
Epub 2023 Aug 10
|
||
doi: 10.3389/fimmu.2023.1250115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37638011" target="_blank">37638011</a><a href="/pmc/articles/PMC10449457" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34036913">Epidermolysis Bullosa: Pediatric Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hon KL,
|
||
Chu S,
|
||
Leung AKC</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2022;18(3):182-190.
|
||
doi: 10.2174/1573396317666210525161252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34036913" target="_blank">34036913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32732072">Inherited epidermolysis bullosa: update on the clinical and genetic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariath LM,
|
||
Santin JT,
|
||
Schuler-Faccini L,
|
||
Kiszewski AE</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2020 Sep-Oct;95(5):551-569.
|
||
Epub 2020 Jul 8
|
||
doi: 10.1016/j.abd.2020.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32732072" target="_blank">32732072</a><a href="/pmc/articles/PMC7563003" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30745488">Junctional Epidermolysis Bullosa in a Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srinivasan S,
|
||
Sharawat IK,
|
||
Saini L</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2018 Dec 15;55(12):1107-1108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30745488" target="_blank">30745488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19945620">Laryngo-onycho-cutaneous syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohn HI,
|
||
Murrell DF</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2010 Jan;28(1):89-92.
|
||
doi: 10.1016/j.det.2009.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19945620" target="_blank">19945620</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%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 (199)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37658982">Birch Bark Extract: A Review in Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heo YA</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2023 Sep;83(14):1309-1314.
|
||
Epub 2023 Sep 2
|
||
doi: 10.1007/s40265-023-01935-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37658982" target="_blank">37658982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36730504">Sucralfate-based cream as a novel and cost-effective topical agent in poorly healing ulcers in junctional epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal A,
|
||
Bhardwaj A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2023 Feb 2;48(2):138-140.
|
||
doi: 10.1093/ced/llac048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36730504" target="_blank">36730504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29963681">Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reimer A,
|
||
Laszig R,
|
||
Pfeiffer J,
|
||
Eberwein P,
|
||
Mittelviefhaus H,
|
||
Bruckner-Tuderman L,
|
||
Has C</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2018 Jul 11;98(7):711-712.
|
||
doi: 10.2340/00015555-2934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29963681" target="_blank">29963681</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27846969">Topical timolol for chronic wounds in patients with junctional epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiaverini C,
|
||
Passeron T,
|
||
Lacour JP</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2016 Dec;75(6):e223-e224.
|
||
doi: 10.1016/j.jaad.2016.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27846969" target="_blank">27846969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6639114">Phenytoin therapy for junctional epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers RB,
|
||
Yancey KB,
|
||
Allen BS,
|
||
Guill MF</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1983 Nov;119(11):925-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6639114" target="_blank">6639114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%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 (46)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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/34036913">Epidermolysis Bullosa: Pediatric Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hon KL,
|
||
Chu S,
|
||
Leung AKC</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2022;18(3):182-190.
|
||
doi: 10.2174/1573396317666210525161252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34036913" target="_blank">34036913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30745488">Junctional Epidermolysis Bullosa in a Neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srinivasan S,
|
||
Sharawat IK,
|
||
Saini L</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2018 Dec 15;55(12):1107-1108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30745488" target="_blank">30745488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19945620">Laryngo-onycho-cutaneous syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohn HI,
|
||
Murrell DF</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2010 Jan;28(1):89-92.
|
||
doi: 10.1016/j.det.2009.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19945620" target="_blank">19945620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1946084">Inherited blistering diseases of the skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fine JD,
|
||
Johnson LB,
|
||
Wright JT</span><br />
|
||
<span class="medgenPMjournal">Pediatrician</span>
|
||
1991;18(3):175-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1946084" target="_blank">1946084</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%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 (127)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38389191">Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins: A longitudinal confirmational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bremer J,
|
||
Pas HH,
|
||
Diercks GFH,
|
||
Meijer HJ,
|
||
van der Molen SM,
|
||
Nijenhuis AM,
|
||
van Nijen-Vos LL,
|
||
Morandé P,
|
||
Yubero MJ,
|
||
Palisson F,
|
||
Fuentes I,
|
||
Pasmooij AMG</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
2024 Feb;33(2):e15035.
|
||
doi: 10.1111/exd.15035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38389191" target="_blank">38389191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38157931">Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wen D,
|
||
Hunjan M,
|
||
Bardhan A,
|
||
Harper N,
|
||
Ogboli M,
|
||
Ozoemena L,
|
||
Liu L,
|
||
Fine JD,
|
||
Chapple I,
|
||
Balacco DL,
|
||
Heagerty A</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2024 Jun;144(6):1334-1343.e14.
|
||
Epub 2023 Dec 28
|
||
doi: 10.1016/j.jid.2023.11.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38157931" target="_blank">38157931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37638011">Autoimmunity against laminin 332.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patzelt S,
|
||
Schmidt E</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1250115.
|
||
Epub 2023 Aug 10
|
||
doi: 10.3389/fimmu.2023.1250115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37638011" target="_blank">37638011</a><a href="/pmc/articles/PMC10449457" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34036913">Epidermolysis Bullosa: Pediatric Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hon KL,
|
||
Chu S,
|
||
Leung AKC</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2022;18(3):182-190.
|
||
doi: 10.2174/1573396317666210525161252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34036913" target="_blank">34036913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8012394">Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aberdam D,
|
||
Galliano MF,
|
||
Vailly J,
|
||
Pulkkinen L,
|
||
Bonifas J,
|
||
Christiano AM,
|
||
Tryggvason K,
|
||
Uitto J,
|
||
Epstein EH Jr,
|
||
Ortonne JP</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1994 Mar;6(3):299-304.
|
||
doi: 10.1038/ng0394-299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8012394" target="_blank">8012394</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%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 (109)</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/37717401">(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tosto V,
|
||
Herrero B,
|
||
Illescas T,
|
||
De la Calle Fernandez-Miranda M,
|
||
Moreno-Sanz B,
|
||
de Lucas R,
|
||
Bartha JL,
|
||
Antolin E</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2023 Nov;290:43-50.
|
||
Epub 2023 Aug 24
|
||
doi: 10.1016/j.ejogrb.2023.08.379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37717401" target="_blank">37717401</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/29983364">Donor skin allograft survival after bone marrow transplantation: Case report and systematic review of the literature☆.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nunez-Villaveiran T,
|
||
Feasel P,
|
||
Keenan S,
|
||
Aliotta R,
|
||
Bosler D,
|
||
Stearns D,
|
||
Bergfeld W,
|
||
Gurunluoglu R</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2019 Jan;72(1):23-34.
|
||
Epub 2018 Jun 9
|
||
doi: 10.1016/j.bjps.2018.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29983364" target="_blank">29983364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29935895">Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mylonas KS,
|
||
Hayes M,
|
||
Ko LN,
|
||
Griggs CL,
|
||
Kroshinsky D,
|
||
Masiakos PT</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2019 Jul;54(7):1351-1358.
|
||
Epub 2018 May 29
|
||
doi: 10.1016/j.jpedsurg.2018.05.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29935895" target="_blank">29935895</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
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|
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<div class=" bottom">
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||
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||
|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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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>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0079301%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079301%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079301%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079301%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079301%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0079301%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
|
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</ul></div>
|
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</div>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS226650" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=305" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Junctional%20epidermolysis%20bullosa" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22junctional%20epidermolysis%20bullosa%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Junctional%20epidermolysis%20bullosa%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Epidermolysis+Bullosa%2C+Junctional/2588" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/epidermolysis_bullosa_junctional_1a_intermediate" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Junctional%20epidermolysis%20bullosa" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2152/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301304" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb559884f3725e5949811b">Junctional epidermolysis bullosa</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5596b15b832ebc177c79">C0079301[conceptid] <span class="number">(1)</span></a>
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<div class="ralinkpop offscreen_noflow">"Joubert-orofaciodigital syndrome"[Disease/phenotype] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb5593b15b832ebc176dd2">C1846790[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(48)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb5592f4a390645e4cf7c0">Joubert syndrome with renal defect</a>
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