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<meta name="keywords" content="C0079295, autosomal dominant generalized ebs, severe form, autosomal dominant generalized epidermolysis bullosa simplex, severe form, disease or syndrome, dowling-meara epidermolysis bullosa, dowling-meara type epidermolysis bullosa simplex, ebs, generalised severe, ebs, generalized severe, ebs-dm, ebs-gen sev, ebs1a, ebsdm, epidermolysis bullosa herpetiformis dowling meara, epidermolysis bullosa herpetiformis dowling-meara, epidermolysis bullosa herpetiformis dowling-meara type, epidermolysis bullosa herpetiformis, dowling meara, epidermolysis bullosa herpetiformis, dowling meara type, epidermolysis bullosa herpetiformis, dowling-meara, epidermolysis bullosa herpetiformis, dowling-meara type, epidermolysis bullosa simplex 1a, dowling-meara type, epidermolysis bullosa simplex 1a, generalized severe, epidermolysis bullosa simplex dowling-meara type, epidermolysis bullosa simplex herpetiformis, epidermolysis bullosa simplex, dowling meara type, epidermolysis bullosa simplex, dowling-meara type, epidermolysis bullosa simplex, generalised severe, epidermolysis bullosa simplex, generalized severe, epidermolysis bullosa simplex, herpetiformis, generalised severe epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, krt14, krt5, simplex epidermolysis bullosa herpetiformis, 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="Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=38194
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ConceptID=C0079295
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epidermolysis bullosa simplex 1A, generalized severe<span class="h1sub">(EBS1A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38194</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.">C0079295</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>EBS1A; Epidermolysis bullosa herpetiformis, Dowling-Meara; Epidermolysis bullosa simplex Dowling-Meara type</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Dowling-Meara epidermolysis bullosa (254179000); Simplex epidermolysis bullosa herpetiformis (254179000); Epidermolysis bullosa simplex herpetiformis (254179000)</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) 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">Genes (locations):<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="KRT14 - ID: 3861 - NCBI Gene" href="/gene/3861" class="medgenPMinfo">KRT14</a> (17q21.2); <a target="_blank" title="KRT5 - ID: 3852 - NCBI Gene" href="/gene/3852" class="medgenPMinfo">KRT5</a> (12q13.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007550" target="_blank">MONDO:0007550</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/131760" target="_blank">131760</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=79396">ORPHA79396</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/NBK1369" target="_blank">Epidermolysis Bullosa Simplex</a></div><div>Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [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/NBK1369#ebs.Summary" target="NBK1369">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.GeneReview_Scope" target="NBK1369">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Diagnosis" target="NBK1369">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Clinical_Characteristics" target="NBK1369">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Genetically_Related_Allelic_Disorder" target="NBK1369">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Differential_Diagnosis" target="NBK1369">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Management" target="NBK1369">Management</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Genetic_Counseling" target="NBK1369">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Resources" target="NBK1369">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Molecular_Genetics" target="NBK1369">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.Chapter_Notes" target="NBK1369">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1369#ebs.References" target="NBK1369">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Jodi Y So | Joyce Teng <a href="/books/NBK1369" target="NBK1369" title="NCBI Bookshelf: Epidermolysis Bullosa Simplex">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Generalized severe epidermolysis bullosa simplex-1A (EBS1A) is an autosomal dominant skin disorder characterized by generalized intraepidermal skin blistering from minimal mechanical trauma beginning at birth. A herpetiform (arcuate) pattern of blisters, a crusting-necrotic aspect of the lesions that is often associated with inflammatory plaques, and clumping of keratin intermediate filaments seen on electron microscopy define the severe subtype of EBS. Skin fragility is very prominent at birth, and large tense blisters can occur after minimal trauma or spontaneously; the disorder may be life-threatening in the first year of life. Congenital ulcerated areas on hands and feet as well as nail involvement are common. Blistering is exacerbated by heat, humidity, and sweating. Tendency to blistering diminishes in adolescence (summary by Has et al., 2020).
|
||
Epidermolysis bullosa simplex (EBS) comprises a group of clinically and genetically heterogeneous skin disorders characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The severe subtype of EBS was previously known as the Dowling-Meara type. The other 2 main subtypes of EBS are the generalized intermediate, previously known as Koebner, type (see 131900) and the localized, previously known as Weber-Cockayne, type (see 131800) (Fine et al., 2008). All 3 of these main subtypes can be caused by mutation in either the KRT5 or the KRT14 gene. Rare EBS subtypes are clinically and genetically heterogeneous and include several syndromic types.
|
||
Other types of epidermis bullosa (EB), classified by the level of skin cleavage and other ultrastructural laboratory findings in addition to clinical features, are junctional EB (JEB; see 226700) and dystrophic EB (DEB; see 131750).
|
||
Genetic Heterogeneity of Epidermolysis Bullosa Simplex
|
||
Other forms of EBS that are caused by mutation in the KRT14 gene are generalized intermediate EBS1B (131900), previously known as the Koebner type; localized EBS1C (131800), previously known as the Weber-Cockayne type; and autosomal recessive generalized EBS1D (601001).
|
||
Forms of EBS caused by mutation in the KRT5 gene are generalized severe EBS2A (619555); generalized intermediate EBS2B (619588); localized EBS2C (619594); generalized autosomal recessive EBS2D (619599); EBS2E (609352), with migratory circinate erythema; and EBS2F (131960), with mottled pigmentation.
|
||
EBS3 (615425) is caused by mutation in the DST gene (113810). EBS4 (615028) is caused by mutation in the EXPH5 gene (612878).
|
||
Forms of EBS caused by mutation in the PLEC gene (601282) are EBS5A (131950), Ogna type; EBS5B (226670), with muscular dystrophy; EBS5C (612138), with pyloric atresia; and EBS5D (616487), autosomal recessive generalized intermediate.
|
||
EBS6 (617294), with scarring and hair loss, is caused by mutation in the KLHL24 gene (611295).
|
||
EBS7 (609057), with nephropathy and deafness, is caused by mutation in the CD151 gene (602243).
|
||
Reviews
|
||
Has et al. (2020) reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility.
|
||
Fine et al. (2008) reviewed phenotypic features and molecular bases of all epidermolysis bullosa subtypes, and recommended revisions in the classification system. <a target="_blank" href="http://www.omim.org/entry/131760">http://www.omim.org/entry/131760</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_44017"><div><strong>Palmoplantar keratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44017</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.">C0022596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44017">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratosis%22%5BClinical%20Features%5D%20OR%2044017%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5602"><div><strong>Hoarse voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5602</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.">C0019825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5602">Feature record</a> | <a href="/medgen?term=%22Hoarse%20voice%22%5BClinical%20Features%5D%20OR%205602%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_394791"><div><strong>Hoarse cry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394791</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.">C2678303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394791">Feature record</a> | <a href="/medgen?term=%22Hoarse%20cry%22%5BClinical%20Features%5D%20OR%20394791%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57875"><div><strong>Atrophic scars</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57875</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57875">Feature record</a> | <a href="/medgen?term=%22Atrophic%20scars%22%5BClinical%20Features%5D%20OR%2057875%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87528"><div><strong>Milia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87528</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0345996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87528">Feature record</a> | <a href="/medgen?term=%22Milia%22%5BClinical%20Features%5D%20OR%2087528%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208888"><div><strong>Oral mucosal blisters</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0853945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blisters arising in the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208888">Feature record</a> | <a href="/medgen?term=%22Oral%20mucosal%20blisters%22%5BClinical%20Features%5D%20OR%20208888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_412159"><div><strong>Abnormal blistering of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412159</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2132198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412159">Feature record</a> | <a href="/medgen?term=%22Abnormal%20blistering%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20412159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_411295"><div><strong>Stratum basale cleavage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411295</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.">C2748755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411295">Feature record</a> | <a href="/medgen?term=%22Stratum%20basale%20cleavage%22%5BClinical%20Features%5D%20OR%20411295%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1810356"><div><strong>Tonofilament clumping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810356</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.">C5676664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810356">Feature record</a> | <a href="/medgen?term=%22Tonofilament%20clumping%22%5BClinical%20Features%5D%20OR%201810356%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratosis</a></span></li></ul></li><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_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral mucosal blisters</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_411295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stratum basale cleavage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1810356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonofilament clumping</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_394791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoarse cry</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hoarse voice</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079298[DISCUI]&test_type=Clinical" ref="ncbi_uid=86896">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1369/" ref="ncbi_uid=86896">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=86896" ref="ncbi_uid=86896">V</a></span></span><span class="TLline"><a href="/medgen/86896" ref="tree=GTR&ncbi_uid=86896&link_uid=86896" title="View MedGen record for 'Epidermolysis bullosa simplex'">Epidermolysis bullosa simplex</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079295[DISCUI]&test_type=Clinical" ref="ncbi_uid=38194">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=38194" target="_blank" href="/omim/131760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1369/" ref="ncbi_uid=38194">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=38194" ref="ncbi_uid=38194">V</a></span></span><span class="TLline">Epidermolysis bullosa simplex 1A, generalized severe</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0080333[DISCUI]&test_type=Clinical" ref="ncbi_uid=87016">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87016" target="_blank" href="/omim/131800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1369/" ref="ncbi_uid=87016">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87016" ref="ncbi_uid=87016">V</a></span></span><span class="TLline"><a href="/medgen/87016" ref="tree=GTR&ncbi_uid=87016&link_uid=87016" title="View MedGen record for 'Epidermolysis bullosa simplex 1C, localized'">Epidermolysis bullosa simplex 1C, localized</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=C0432316[DISCUI]&test_type=Clinical" ref="ncbi_uid=140934">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140934" target="_blank" href="/omim/131960">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1369/" ref="ncbi_uid=140934">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140934" ref="ncbi_uid=140934">V</a></span></span><span class="TLline"><a href="/medgen/140934" ref="tree=GTR&ncbi_uid=140934&link_uid=140934" title="View MedGen record for 'Epidermolysis bullosa simplex with mottled pigmentation'">Epidermolysis bullosa simplex with mottled pigmentation</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=C5561924[DISCUI]&test_type=Clinical" ref="ncbi_uid=1794134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1794134" target="_blank" href="/omim/131900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1369/" ref="ncbi_uid=1794134">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794134" ref="ncbi_uid=1794134">V</a></span></span><span class="TLline"><a href="/medgen/1794134" ref="tree=GTR&ncbi_uid=1794134&link_uid=1794134" title="View MedGen record for 'Epidermolysis bullosa simplex, Koebner type'">Epidermolysis bullosa simplex, Koebner 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/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/86896" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a></span><ul><li><span class="matched_ds">Epidermolysis bullosa simplex 1A, generalized severe</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11422&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Epidermolysis bullosa simplex 1A, generalized severe</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/37950437">Treatment of epidermolysis bullosa simplex with dupilumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun X,
|
||
Zhang J,
|
||
Yang Q,
|
||
Lin J</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2024 Apr;51(4):e131-e132.
|
||
Epub 2023 Nov 10
|
||
doi: 10.1111/1346-8138.17037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37950437" target="_blank">37950437</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/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=(epidermolysis%20bullosa%20simplex%201a%2C%20generalized%20severe)%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 (37)</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/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/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/34292508">Investigational Treatments for Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou PC,
|
||
Wang HT,
|
||
Abhee S,
|
||
Tu WT,
|
||
McGrath JA,
|
||
Hsu CK</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Nov;22(6):801-817.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1007/s40257-021-00626-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34292508" target="_blank">34292508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32973163">Epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardhan A,
|
||
Bruckner-Tuderman L,
|
||
Chapple ILC,
|
||
Fine JD,
|
||
Harper N,
|
||
Has C,
|
||
Magin TM,
|
||
Marinkovich MP,
|
||
Marshall JF,
|
||
McGrath JA,
|
||
Mellerio JE,
|
||
Polson R,
|
||
Heagerty AH</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2020 Sep 24;6(1):78.
|
||
doi: 10.1038/s41572-020-0210-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32973163" target="_blank">32973163</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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 (218)</a></div><h3 class="subhead">Diagnosis</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/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/34292508">Investigational Treatments for Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou PC,
|
||
Wang HT,
|
||
Abhee S,
|
||
Tu WT,
|
||
McGrath JA,
|
||
Hsu CK</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Nov;22(6):801-817.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1007/s40257-021-00626-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34292508" target="_blank">34292508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32973163">Epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardhan A,
|
||
Bruckner-Tuderman L,
|
||
Chapple ILC,
|
||
Fine JD,
|
||
Harper N,
|
||
Has C,
|
||
Magin TM,
|
||
Marinkovich MP,
|
||
Marshall JF,
|
||
McGrath JA,
|
||
Mellerio JE,
|
||
Polson R,
|
||
Heagerty AH</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2020 Sep 24;6(1):78.
|
||
doi: 10.1038/s41572-020-0210-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32973163" target="_blank">32973163</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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 (250)</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/36516090">Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guide SV,
|
||
Gonzalez ME,
|
||
Bağcı IS,
|
||
Agostini B,
|
||
Chen H,
|
||
Feeney G,
|
||
Steimer M,
|
||
Kapadia B,
|
||
Sridhar K,
|
||
Quesada Sanchez L,
|
||
Gonzalez F,
|
||
Van Ligten M,
|
||
Parry TJ,
|
||
Chitra S,
|
||
Kammerman LA,
|
||
Krishnan S,
|
||
Marinkovich MP</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Dec 15;387(24):2211-2219.
|
||
doi: 10.1056/NEJMoa2206663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36516090" target="_blank">36516090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35347281">In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurevich I,
|
||
Agarwal P,
|
||
Zhang P,
|
||
Dolorito JA,
|
||
Oliver S,
|
||
Liu H,
|
||
Reitze N,
|
||
Sarma N,
|
||
Bagci IS,
|
||
Sridhar K,
|
||
Kakarla V,
|
||
Yenamandra VK,
|
||
O'Malley M,
|
||
Prisco M,
|
||
Tufa SF,
|
||
Keene DR,
|
||
South AP,
|
||
Krishnan SM,
|
||
Marinkovich MP</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2022 Apr;28(4):780-788.
|
||
Epub 2022 Mar 28
|
||
doi: 10.1038/s41591-022-01737-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35347281" target="_blank">35347281</a><a href="/pmc/articles/PMC9018416" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
|
||
Diotallevi F,
|
||
Radi G,
|
||
Campanati A,
|
||
Offidani A</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Feb 5;13(2)
|
||
doi: 10.3390/toxins13020120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6862607">Epidermolysis bullosa simplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain PK,
|
||
Kaushik A</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1983 Jan;20(1):63-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6862607" target="_blank">6862607</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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 (68)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39317060">Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pachis ST,
|
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Ramovs V,
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Freund C,
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Has C,
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Raymond K</span><br />
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<span class="medgenPMjournal">Stem Cell Res</span>
|
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2024 Dec;81:103551.
|
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Epub 2024 Sep 10
|
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doi: 10.1016/j.scr.2024.103551.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39317060" target="_blank">39317060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39273442">Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bchetnia M,
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Powell J,
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McCuaig C,
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Boucher-Lafleur AM,
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Morin C,
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Dupéré A,
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Laprise C</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2024 Aug 31;25(17)
|
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<span class="bold">PMID: </span><a href="/pubmed/39273442" target="_blank">39273442</a><a href="/pmc/articles/PMC11394917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34036913">Epidermolysis Bullosa: Pediatric Perspectives.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hon KL,
|
||
Chu S,
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Leung AKC</span><br />
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<span class="medgenPMjournal">Curr Pediatr Rev</span>
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2022;18(3):182-190.
|
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doi: 10.2174/1573396317666210525161252.
|
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<span class="bold">PMID: </span><a href="/pubmed/34036913" target="_blank">34036913</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32973163">Epidermolysis bullosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bardhan A,
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Bruckner-Tuderman L,
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Chapple ILC,
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Fine JD,
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Harper N,
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Has C,
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Magin TM,
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Marinkovich MP,
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Marshall JF,
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McGrath JA,
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<span class="medgenPMjournal">Nat Rev Dis Primers</span>
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2020 Sep 24;6(1):78.
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<span class="bold">PMID: </span><a href="/pubmed/32973163" target="_blank">32973163</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15708284">Inherited defects in keratins.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Irvine AD</span><br />
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<span class="medgenPMjournal">Clin Dermatol</span>
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2005 Jan-Feb;23(1):6-14.
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doi: 10.1016/j.clindermatol.2004.09.014.
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<span class="bold">PMID: </span><a href="/pubmed/15708284" target="_blank">15708284</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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 (123)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39317060">Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pachis ST,
|
||
Ramovs V,
|
||
Freund C,
|
||
Has C,
|
||
Raymond K</span><br />
|
||
<span class="medgenPMjournal">Stem Cell Res</span>
|
||
2024 Dec;81:103551.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/j.scr.2024.103551.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39317060" target="_blank">39317060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39273442">Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bchetnia M,
|
||
Powell J,
|
||
McCuaig C,
|
||
Boucher-Lafleur AM,
|
||
Morin C,
|
||
Dupéré A,
|
||
Laprise C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Aug 31;25(17)
|
||
doi: 10.3390/ijms25179495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39273442" target="_blank">39273442</a><a href="/pmc/articles/PMC11394917" 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>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
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Wei R,
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Deng D,
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Zhang X,
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Cao Y,
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Pan C,
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||
Wang Y,
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Cao Q,
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Wang J,
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Zeng M,
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Huang L,
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Gu Y,
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Yao Z,
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Li M</span><br />
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<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
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2023 Feb;37(2):411-419.
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||
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/36516090">Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guide SV,
|
||
Gonzalez ME,
|
||
Bağcı IS,
|
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Agostini B,
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Chen H,
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Feeney G,
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Steimer M,
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Kapadia B,
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Sridhar K,
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Quesada Sanchez L,
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Gonzalez F,
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Van Ligten M,
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Parry TJ,
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Chitra S,
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Kammerman LA,
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Krishnan S,
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Marinkovich MP</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2022 Dec 15;387(24):2211-2219.
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doi: 10.1056/NEJMoa2206663.
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<span class="bold">PMID: </span><a href="/pubmed/36516090" target="_blank">36516090</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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 (172)</a></div></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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/38096448">Oral Prosthetic Rehabilitation in Patients with Epidermolysis Bullosa Hereditaria: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascarell S,
|
||
Citterio H,
|
||
Le Roux É,
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Berdal A,
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||
Lescaille G,
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||
Friedlander L</span><br />
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<span class="medgenPMjournal">Int J Prosthodont</span>
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||
2024 Nov 22;37(6):699-710.
|
||
doi: 10.11607/ijp.8791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096448" target="_blank">38096448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
|
||
Diotallevi F,
|
||
Radi G,
|
||
Campanati A,
|
||
Offidani A</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Feb 5;13(2)
|
||
doi: 10.3390/toxins13020120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" 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/31177584">Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie D,
|
||
Bilgic-Temel A,
|
||
Abu Alrub N,
|
||
Murrell DF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2019 Jul;36(4):430-436.
|
||
Epub 2019 Jun 9
|
||
doi: 10.1111/pde.13866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31177584" target="_blank">31177584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18828848">A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langan SM,
|
||
Williams HC</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2009 Jan;34(1):20-5.
|
||
Epub 2008 Sep 25
|
||
doi: 10.1111/j.1365-2230.2008.02789.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18828848" target="_blank">18828848</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0079295%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079295%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0079295%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0079295%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(epidermolysis%20bullosa%20simplex%201a%2C%20generalized%20severe)%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(%22Epidermolysis%20bullosa%20simplex%201A%2C%20generalized%20severe%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="Molecular_resources">Molecular resources</h1><a sid="115" 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.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=148040%20148066" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3852[geneid]" target="_blank">View KRT5 variations in ClinVar</a></li><li><a href="/clinvar/?term=3861[geneid]" target="_blank">View KRT14 variations in ClinVar</a></li><li><a href="/nuccore/194473689,206725518" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=131760" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3d93c2f30673f7bed956a">Epidermolysis bullosa simplex 1A, generalized severe</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3d93867c23b31e0a55968">Epidermolysis bullosa simplex 1C, localized</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3d93367c23b31e0a54047">Epidermolysis bullosa simplex with mottled pigmentation</a>
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