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<meta name="keywords" content="C0432316, congenital abnormality, ebs with mottled pigmentation, ebs-mp, ebs2f, ebsmp, epidermolysis bullosa simplex 2f, with mottled pigmentation, epidermolysis bullosa simplex with mottled pigmentation, krt5, simple epidermolysis bullosa with mottled pigmentation, speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering, speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering, 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=140934
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ConceptID=C0432316
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epidermolysis bullosa simplex with mottled pigmentation<span class="h1sub">(EBS2F)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140934</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.">C0432316</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EBS with mottled pigmentation; EBS2F; EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION; SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Epidermolysis bullosa simplex with mottled pigmentation (254180002); Simple epidermolysis bullosa with mottled pigmentation (254180002)</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">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="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:0007556" target="_blank">MONDO:0007556</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/131960" target="_blank">131960</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=79397">ORPHA79397</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 />Epidermolysis bullosa simplex-2F with mottled pigmentation (EBS2F) is characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. Although a single pathologic mutation in the KRT5 gene (P25L; 148040.0009) typically causes this phenotype, EBS patients with mottled pigmentation with other mutations in KRT5 or in other genes have been reported (summary by Has et al., 2020).
|
||
For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). <a target="_blank" href="http://www.omim.org/entry/131960">http://www.omim.org/entry/131960</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_870406"><div><strong>Punctate palmoplantar hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870406</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.">C4024851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870406">Feature record</a> | <a href="/medgen?term=%22Punctate%20palmoplantar%20hyperkeratosis%22%5BClinical%20Features%5D%20OR%20870406%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_331737"><div><strong>Nail dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of developmental dysplasia of the nail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331737">Feature record</a> | <a href="/medgen?term=%22Nail%20dysplasia%22%5BClinical%20Features%5D%20OR%20331737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342031"><div><strong>Mottled pigmentation of the trunk and proximal extremities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342031</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.">C1851551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342031">Feature record</a> | <a href="/medgen?term=%22Mottled%20pigmentation%20of%20the%20trunk%20and%20proximal%20extremities%22%5BClinical%20Features%5D%20OR%20342031%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342032"><div><strong>Discrete 2 to 5-mm hyper- and hypopigmented macules</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342032</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.">C1851552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342032">Feature record</a> | <a href="/medgen?term=%22Discrete%202%20to%205-mm%20hyper-%20and%20hypopigmented%20macules%22%5BClinical%20Features%5D%20OR%20342032%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_868713"><div><strong>Hypoplastic fifth toenail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868713</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.">C4023116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdeveloped nails of the fifth toes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868713">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20fifth%20toenail%22%5BClinical%20Features%5D%20OR%20868713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1779880"><div><strong>Intra-epidermal blistering</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779880</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.">C5539821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779880">Feature record</a> | <a href="/medgen?term=%22Intra-epidermal%20blistering%22%5BClinical%20Features%5D%20OR%201779880%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_870406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Punctate palmoplantar hyperkeratosis</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_342032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Discrete 2 to 5-mm hyper- and hypopigmented macules</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic fifth toenail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1779880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intra-epidermal blistering</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mottled pigmentation of the trunk and proximal extremities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li></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="TLclosed"><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"><a href="/medgen/38194" ref="tree=GTR&ncbi_uid=38194&link_uid=38194" title="View MedGen record for 'Epidermolysis bullosa simplex 1A, generalized severe'">Epidermolysis bullosa simplex 1A, generalized severe</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=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="matched_ds"><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">Epidermolysis bullosa simplex with mottled pigmentation</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 with mottled pigmentation</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=11423&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Epidermolysis bullosa simplex with mottled pigmentation</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27384765">Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turcan I,
|
||
Pasmooij AM,
|
||
Van den Akker PC,
|
||
Lemmink H,
|
||
Sinke RJ,
|
||
Jonkman MF</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2016 Oct 1;152(10):1137-1141.
|
||
doi: 10.1001/jamadermatol.2016.2268.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27384765" target="_blank">27384765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27249461">A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Won KH,
|
||
Lee SH,
|
||
Lee MH,
|
||
Rhee DY,
|
||
Yeo UC,
|
||
Chang SE</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2016 Nov;18(7):381-386.
|
||
Epub 2016 Jul 19
|
||
doi: 10.1080/14764172.2016.1191645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27249461" target="_blank">27249461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9129237">A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irvine AD,
|
||
McKenna KE,
|
||
Jenkinson H,
|
||
Hughes AE</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1997 May;108(5):809-10.
|
||
doi: 10.1111/1523-1747.ep12292263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9129237" target="_blank">9129237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8799157">The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uttam J,
|
||
Hutton E,
|
||
Coulombe PA,
|
||
Anton-Lamprecht I,
|
||
Yu QC,
|
||
Gedde-Dahl T Jr,
|
||
Fine JD,
|
||
Fuchs E</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1996 Aug 20;93(17):9079-84.
|
||
doi: 10.1073/pnas.93.17.9079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8799157" target="_blank">8799157</a><a href="/pmc/articles/PMC38598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27384765">Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turcan I,
|
||
Pasmooij AM,
|
||
Van den Akker PC,
|
||
Lemmink H,
|
||
Sinke RJ,
|
||
Jonkman MF</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2016 Oct 1;152(10):1137-1141.
|
||
doi: 10.1001/jamadermatol.2016.2268.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27384765" target="_blank">27384765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22640275">Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Echeverría-García B,
|
||
Vicente A,
|
||
Hernández Á,
|
||
Mascaró JM,
|
||
Colmenero I,
|
||
Terrón A,
|
||
Escámez MJ,
|
||
del Río M,
|
||
González-Enseñat MA,
|
||
Torrelo A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2013 Nov-Dec;30(6):e125-31.
|
||
Epub 2012 May 29
|
||
doi: 10.1111/j.1525-1470.2012.01748.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22640275" target="_blank">22640275</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21818518">Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gray C,
|
||
Greenlaw SM,
|
||
Alavian C,
|
||
Wiss K</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2011 Aug;10(8):926-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21818518" target="_blank">21818518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20923750">Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glàsz-Bóna A,
|
||
Medvecz M,
|
||
Virágh Z,
|
||
Hatvani Z,
|
||
Blazsek A,
|
||
Kárpáti S</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
2010 Nov-Dec;20(6):698-700.
|
||
Epub 2010 Oct 5
|
||
doi: 10.1684/ejd.2010.1080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20923750" target="_blank">20923750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17635506">Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamada T,
|
||
Yasumoto S,
|
||
Karashima T,
|
||
Ishii N,
|
||
Shimada H,
|
||
Kawano Y,
|
||
Imayama S,
|
||
McGrath JA,
|
||
Hashimoto T</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2007 Sep;157(3):605-8.
|
||
Epub 2007 Jul 16
|
||
doi: 10.1111/j.1365-2133.2007.08086.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17635506" target="_blank">17635506</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27249461">A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Won KH,
|
||
Lee SH,
|
||
Lee MH,
|
||
Rhee DY,
|
||
Yeo UC,
|
||
Chang SE</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2016 Nov;18(7):381-386.
|
||
Epub 2016 Jul 19
|
||
doi: 10.1080/14764172.2016.1191645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27249461" target="_blank">27249461</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16417221">A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson ES,
|
||
Lee JB,
|
||
Hyde PH,
|
||
Richard G</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2006 Jan;126(1):79-84.
|
||
doi: 10.1038/sj.jid.5700025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16417221" target="_blank">16417221</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27249461">A prospective, split-face, double-blinded, randomized study of the efficacy and safety of a fractional 1064-nm Q-switched Nd:YAG laser for photoaging-associated mottled pigmentation in Asian skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Won KH,
|
||
Lee SH,
|
||
Lee MH,
|
||
Rhee DY,
|
||
Yeo UC,
|
||
Chang SE</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2016 Nov;18(7):381-386.
|
||
Epub 2016 Jul 19
|
||
doi: 10.1080/14764172.2016.1191645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27249461" target="_blank">27249461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16417221">A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson ES,
|
||
Lee JB,
|
||
Hyde PH,
|
||
Richard G</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2006 Jan;126(1):79-84.
|
||
doi: 10.1038/sj.jid.5700025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16417221" target="_blank">16417221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11167681">Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irvine AD,
|
||
Rugg EL,
|
||
Lane EB,
|
||
Hoare S,
|
||
Peret C,
|
||
Hughes AE,
|
||
Heagerty AH</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2001 Jan;144(1):40-5.
|
||
doi: 10.1046/j.1365-2133.2001.03950.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11167681" target="_blank">11167681</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8799157">The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uttam J,
|
||
Hutton E,
|
||
Coulombe PA,
|
||
Anton-Lamprecht I,
|
||
Yu QC,
|
||
Gedde-Dahl T Jr,
|
||
Fine JD,
|
||
Fuchs E</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1996 Aug 20;93(17):9079-84.
|
||
doi: 10.1073/pnas.93.17.9079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8799157" target="_blank">8799157</a><a href="/pmc/articles/PMC38598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</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">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C0432316%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0432316%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0432316%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0432316%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=131960" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79397" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3852[geneid]" target="_blank">View KRT5 variations in ClinVar</a></li><li><a href="/nuccore/194473689" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=131960" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Epidermolysis+Bullosa+Simplex+with+Mottled+Pigmentation/2581" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/epidermolysis_bullosa_simplex_2f_with_mottled_pigmentation" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9737/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301543" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Epidermolysis%20bullosa%20simplex%20with%20mottled%20pigmentation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=140934" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=140934" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0432316[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0432316[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=140934" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=140934" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=140934" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=140934" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=140934" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=140934" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=140934" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=140934" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=140934" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3d93367c23b31e0a54047">Epidermolysis bullosa simplex with mottled pigmentation</a>
|
||
<div class="ralinkpop offscreen_noflow">Epidermolysis bullosa simplex with mottled pigmentation<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3d8c72f30673f7beaf182">Epidermolysis Bullosa Simplex - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Epidermolysis Bullosa Simplex - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3d8c52f30673f7beae272">Table 11. [Epidermolysis Bullosa Simplex: Gene-Specific Laboratory Consideration...</a>
|
||
<div class="ralinkpop offscreen_noflow">Table 11. [Epidermolysis Bullosa Simplex: Gene-Specific Laboratory Considerations]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
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