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<meta name="keywords" content="C0079153, autosomal dominant epidermolytic ichthyosis, bcie, bie, bie - bullous ichthyosiform erythroderma, bullous congenital ichthyosiform erythroderma, bullous congenital ichthyosiform erythroderma of brock, bullous erythroderma ichthyosiforme, bullous erythroderma ichthyosiformes, bullous erythroderma ichthyosiformis congenita of brocq, bullous ichthyosiform erythroderma, bullous ichthyosiform erythroderma congenita, bullous ichthyosiform erythroderma congenital, bullous ichthyosiform erythrodermas, bullous ichthyosis, congenital bullous ichthyosiform erythroderma, congenital ichthyosiform erythroderma, bullous, disease or syndrome, dominant ichthyosis vulgaris, ehk, ei, epidermolytic hyperkeratoses, epidermolytic hyperkeratosis, epidermolytic ichthyosis, epidermolytic palmoplantar hyperkeratosis, erythroderma ichthyosiforme, bullous, erythroderma ichthyosiformes, bullous, erythroderma, bullous ichthyosiform, erythrodermas, bullous ichthyosiform, hyperkeratoses, epidermolytic, hyperkeratosis, epidermolytic, ichthyosiform erythroderma, bullous, ichthyosiform erythroderma, bullous congenital, ichthyosiform erythrodermas, bullous, ichthyosiforme, bullous erythroderma, ichthyosiformes, bullous erythroderma, ichthyosis hystrix brocq type, krt1-related epidermolytic hyperkeratosis, krt10-related epidermolytic hyperkeratosis, 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="Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).\n\nAs affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.\n\nEpidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.\n\nEpidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Epidermolytic ichthyosis (Concept Id: C0079153)
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<!--
UID=38179
ConceptID=C0079153
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epidermolytic ichthyosis<span class="h1sub">(BCIE; BIE; EI)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38179</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0079153</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ; Bullous ichthyosiform erythroderma; Bullous ichthyosiform erythroderma congenita; Congenital bullous ichthyosiform erythroderma; Epidermolytic Hyperkeratosis; KRT1-Related Epidermolytic Hyperkeratosis; KRT10-Related Epidermolytic Hyperkeratosis</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Congenital bullous ichthyosiform erythroderma (254167000); Dominant ichthyosis vulgaris (254167000); Epidermolytic palmoplantar hyperkeratosis (239071005); Bullous ichthyosis (254167000); Bullous ichthyosiform erythroderma (254167000); Epidermolytic hyperkeratosis (254167000); BIE - Bullous ichthyosiform erythroderma (254167000)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/3858">KRT10</a>, <a target="_blank" href="/gene/3848">KRT1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007475">HP:0007475</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0007239" target="_blank">MONDO:0007239</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/113800" target="_blank">113800</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS113800" target="_blank">PS113800</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=312">ORPHA312</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_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).<br /><br />As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.<br /><br />Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.<br /><br />Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079153[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=38179">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=38179" target="_blank" href="/omim/113800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=38179" ref="ncbi_uid=38179">V</a></span></span><span class="TLline">Epidermolytic ichthyosis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5781874[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1826137">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1826137" target="_blank" href="/omim/113800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1826137" ref="ncbi_uid=1826137">V</a></span></span><span class="TLline"><a href="/medgen/1826137" ref="tree=GTR&amp;ncbi_uid=1826137&amp;link_uid=1826137" title="View MedGen record for 'Epidermolytic hyperkeratosis 1'">Epidermolytic hyperkeratosis 1</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=C5882671[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=1846123">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1846123" target="_blank" href="/omim/148080">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1846123" ref="ncbi_uid=1846123">V</a></span></span><span class="TLline"><a href="/medgen/1846123" ref="tree=GTR&amp;ncbi_uid=1846123&amp;link_uid=1846123" title="View MedGen record for 'Epidermolytic hyperkeratosis 2A, autosomal dominant'">Epidermolytic hyperkeratosis 2A, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1845041" target="_blank" href="/omim/148080">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1845041" ref="ncbi_uid=1845041">V</a></span></span><span class="TLline"><a href="/medgen/1845041" ref="tree=GTR&amp;ncbi_uid=1845041&amp;link_uid=1845041" title="View MedGen record for 'Epidermolytic hyperkeratosis 2B, autosomal recessive'">Epidermolytic hyperkeratosis 2B, autosomal recessive</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/20779" ref="tree=MeSH" title="MedGen record for Genodermatosis">Genodermatosis</a></span><ul><li><span class="TLline"><a href="/medgen/86936" ref="tree=MeSH" title="MedGen record for Congenital ichthyosiform erythroderma">Congenital ichthyosiform erythroderma</a></span><ul><li><span class="matched_ds">Epidermolytic ichthyosis</span><ul><li><span class="TLline"><a href="/medgen/1826137" ref="tree=MeSH" title="MedGen record for Epidermolytic hyperkeratosis 1">Epidermolytic hyperkeratosis 1</a></span></li><li><span class="TLline"><a href="/medgen/1846123" ref="tree=MeSH" title="MedGen record for Epidermolytic hyperkeratosis 2A, autosomal dominant">Epidermolytic hyperkeratosis 2A, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/1845041" ref="tree=MeSH" title="MedGen record for Epidermolytic hyperkeratosis 2B, autosomal recessive">Epidermolytic hyperkeratosis 2B, autosomal recessive</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=2079&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Epidermolytic ichthyosis</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_98153"><div><strong>Ichthyosis bullosa of Siemens</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98153</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0432306</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant congenital bullous ichthyosis without erythroderma. Blistering occurs in response to mild physical trauma and results in superficial erosion ('molting') of the outer skin, particularly on flexures, shins, and the periumbilical region. Keratin filament aggregates are seen by electron microscopy in the granular and upper spinous layers of the epidermis (summary by McLean et al., 1994).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98153">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334410"><div><strong>Annular epidermolytic ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334410</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843463</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334410">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462159"><div><strong>Ectodermal dysplasia-cutaneous syndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462159</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150809</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462159">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1644485"><div><strong>Palmoplantar keratoderma, nonepidermolytic, focal 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644485</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4552049</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by Kelsell et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644485">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1826137"><div><strong>Epidermolytic hyperkeratosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826137</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5781874</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Epidermolytic hyperkeratosis-1 (EHK1) is a rare autosomal dominant disorder of cornification. The disorder usually presents at birth with erythema and blistering and is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters. Ultrastructural analysis reveals clumping of the intermediate filaments within keratinocytes of the spinous and granular layers (summary by Whittock et al., 2001).&#13; A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), can also be caused by mutation in KRT1, as well KRT9 (607606).&#13; Genetic Heterogeneity of Epidermolytic Hyperkeratosis&#13; Mutation in the KRT10 gene (148080) results in both autosomal dominant (EHK2A; 620150) and autosomal recessive (EHK2B; 620707) forms of epidermolytic hyperkeratosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1826137">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Annular epidermolytic ichthyosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia-cutaneous syndactyly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1826137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolytic hyperkeratosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis bullosa of Siemens</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratoderma, nonepidermolytic, focal 1</a></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/37666225">Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clabbers J,
van Oosten NV,
Bolling M,
Vreeburg M,
van Geel M,
Steijlen P,
Gostynski A</span><br />
<span class="medgenPMjournal">Dermatology</span>
2024;240(1):170-177.
Epub 2023 Sep 4
doi: 10.1159/000533934.
<span class="bold">PMID: </span><a href="/pubmed/37666225" target="_blank">37666225</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28815464">Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vahlquist A,
Fischer J,
Törmä H</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2018 Feb;19(1):51-66.
doi: 10.1007/s40257-017-0313-x.
<span class="bold">PMID: </span><a href="/pubmed/28815464" target="_blank">28815464</a><a href="/pmc/articles/PMC5797567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21271994">Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arin MJ,
Oji V,
Emmert S,
Hausser I,
Traupe H,
Krieg T,
Grimberg G</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
2011 Feb;164(2):442-7.
doi: 10.1111/j.1365-2133.2010.10096.x.
<span class="bold">PMID: </span><a href="/pubmed/21271994" target="_blank">21271994</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epidermolytic%20ichthyosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38898621">Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nelson JM,
Isaac JM,
Mervak JE,
Mancuso JB,
Chan MP,
Arreola A,
Cha KB</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2024 Sep-Oct;41(5):780-785.
Epub 2024 Jun 19
doi: 10.1111/pde.15676.
<span class="bold">PMID: </span><a href="/pubmed/38898621" target="_blank">38898621</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35218370">Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lefferdink R,
Rangel SM,
Chima M,
Ibler E,
Pavel AB,
Kim H,
Wu B,
Abu-Zayed H,
Wu J,
Jackson K,
Singer G,
Choate KA,
Guttman-Yassky E,
Paller AS</span><br />
<span class="medgenPMjournal">Arch Dermatol Res</span>
2023 Mar;315(2):305-315.
Epub 2022 Feb 26
doi: 10.1007/s00403-022-02325-3.
<span class="bold">PMID: </span><a href="/pubmed/35218370" target="_blank">35218370</a><a href="/pmc/articles/PMC10234080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28342182">At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toberer F,
Happle R,
Schneiderbauer R,
Hausser I,
Kröhl V,
Epple A,
Moog U,
Enk AH,
Lonsdorf AS</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2017 Nov;31(11):1912-1915.
Epub 2017 Apr 10
doi: 10.1111/jdv.14242.
<span class="bold">PMID: </span><a href="/pubmed/28342182" target="_blank">28342182</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24119255">Nonsyndromic types of ichthyoses - an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Traupe H,
Fischer J,
Oji V</span><br />
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
2014 Feb;12(2):109-21.
Epub 2013 Oct 11
doi: 10.1111/ddg.12229.
<span class="bold">PMID: </span><a href="/pubmed/24119255" target="_blank">24119255</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23039137">How do keratinizing disorders and blistering disorders overlap?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamada T,
Tsuruta D,
Fukuda S,
Ishii N,
Teye K,
Numata S,
Dainichi T,
Karashima T,
Ohata C,
Furumura M,
Hashimoto T</span><br />
<span class="medgenPMjournal">Exp Dermatol</span>
2013 Feb;22(2):83-7.
Epub 2012 Oct 8
doi: 10.1111/exd.12021.
<span class="bold">PMID: </span><a href="/pubmed/23039137" target="_blank">23039137</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolytic%20ichthyosis%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37657660">Epidermolytic Ichthyosis in a Neonate.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pan S,
Leszczynska MA,
Parekh P,
Hendrick SJ</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2023 Dec;263:113711.
Epub 2023 Aug 30
doi: 10.1016/j.jpeds.2023.113711.
<span class="bold">PMID: </span><a href="/pubmed/37657660" target="_blank">37657660</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35106818">A child with epidermolytic ichthyosis, generalized erythema, and erosions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah KM,
Silverman RA,
Mauskar MM</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2022 Jan;39(1):128-129.
doi: 10.1111/pde.14880.
<span class="bold">PMID: </span><a href="/pubmed/35106818" target="_blank">35106818</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33602779">Mosaic epidermolytic ichthyosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes SR,
Gameiro AR,
Cardoso JC,
Reis JP</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2021 Feb 18;14(2)
doi: 10.1136/bcr-2020-240424.
<span class="bold">PMID: </span><a href="/pubmed/33602779" target="_blank">33602779</a><a href="/pmc/articles/PMC7896601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33555633">Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohamad J,
Samuelov L,
Assaf S,
Vodo D,
Sarig O,
Sprecher E</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2021 Mar;38(2):538-540.
Epub 2021 Feb 8
doi: 10.1111/pde.14529.
<span class="bold">PMID: </span><a href="/pubmed/33555633" target="_blank">33555633</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32556352">Recurrent KRT10 Variant in Ichthyosis with Confetti.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Takeichi T,
Suga Y,
Mizuno T,
Okuno Y,
Ichikawa D,
Kono M,
Lee JYW,
McGrath JA,
Akiyama M</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2020 Jul 2;100(14):adv00209.
doi: 10.2340/00015555-3570.
<span class="bold">PMID: </span><a href="/pubmed/32556352" target="_blank">32556352</a><a href="/pmc/articles/PMC9199913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolytic%20ichthyosis%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 (33)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38739763">Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tanahashi K,
Kono M,
Yoshikawa T,
Suzuki Y,
Inoie M,
Kuwatsuka Y,
Kinoshita F,
Takeichi T,
Akiyama M</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
2024 Aug 14;191(3):397-404.
doi: 10.1093/bjd/ljae193.
<span class="bold">PMID: </span><a href="/pubmed/38739763" target="_blank">38739763</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35218370">Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lefferdink R,
Rangel SM,
Chima M,
Ibler E,
Pavel AB,
Kim H,
Wu B,
Abu-Zayed H,
Wu J,
Jackson K,
Singer G,
Choate KA,
Guttman-Yassky E,
Paller AS</span><br />
<span class="medgenPMjournal">Arch Dermatol Res</span>
2023 Mar;315(2):305-315.
Epub 2022 Feb 26
doi: 10.1007/s00403-022-02325-3.
<span class="bold">PMID: </span><a href="/pubmed/35218370" target="_blank">35218370</a><a href="/pmc/articles/PMC10234080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28815464">Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vahlquist A,
Fischer J,
Törmä H</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2018 Feb;19(1):51-66.
doi: 10.1007/s40257-017-0313-x.
<span class="bold">PMID: </span><a href="/pubmed/28815464" target="_blank">28815464</a><a href="/pmc/articles/PMC5797567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22930352">Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bygum A,
Virtanen M,
Brandrup F,
Gånemo A,
Sommerlund M,
Strauss G,
Vahlquist A</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2013 May;93(3):309-13.
doi: 10.2340/00015555-1447.
<span class="bold">PMID: </span><a href="/pubmed/22930352" target="_blank">22930352</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20643494">Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oji V,
Tadini G,
Akiyama M,
Blanchet Bardon C,
Bodemer C,
Bourrat E,
Coudiere P,
DiGiovanna JJ,
Elias P,
Fischer J,
Fleckman P,
Gina M,
Harper J,
Hashimoto T,
Hausser I,
Hennies HC,
Hohl D,
Hovnanian A,
Ishida-Yamamoto A,
Jacyk WK,
Leachman S,
Leigh I,
Mazereeuw-Hautier J,
Milstone L,
Morice-Picard F,
Paller AS,
Richard G,
Schmuth M,
Shimizu H,
Sprecher E,
Van Steensel M,
Taïeb A,
Toro JR,
Vabres P,
Vahlquist A,
Williams M,
Traupe H</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2010 Oct;63(4):607-41.
doi: 10.1016/j.jaad.2009.11.020.
<span class="bold">PMID: </span><a href="/pubmed/20643494" target="_blank">20643494</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolytic%20ichthyosis%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38898621">Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nelson JM,
Isaac JM,
Mervak JE,
Mancuso JB,
Chan MP,
Arreola A,
Cha KB</span><br />
<span class="medgenPMjournal">Pediatr Dermatol</span>
2024 Sep-Oct;41(5):780-785.
Epub 2024 Jun 19
doi: 10.1111/pde.15676.
<span class="bold">PMID: </span><a href="/pubmed/38898621" target="_blank">38898621</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29469768">A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simkin D,
Ho JD,
Simkin DJ,
Tomany K</span><br />
<span class="medgenPMjournal">Dermatol Online J</span>
2018 Jan 15;24(1)
<span class="bold">PMID: </span><a href="/pubmed/29469768" target="_blank">29469768</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28815464">Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vahlquist A,
Fischer J,
Törmä H</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2018 Feb;19(1):51-66.
doi: 10.1007/s40257-017-0313-x.
<span class="bold">PMID: </span><a href="/pubmed/28815464" target="_blank">28815464</a><a href="/pmc/articles/PMC5797567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28121638">Epidermolytic Ichthyosis Sine Epidermolysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eskin-Schwartz M,
Drozhdina M,
Sarig O,
Gat A,
Jackman T,
Isakov O,
Shomron N,
Samuelov L,
Malchin N,
Peled A,
Vodo D,
Hovnanian A,
Ruzicka T,
Koshkin S,
Harmon RM,
Koetsier JL,
Green KJ,
Paller AS,
Sprecher E</span><br />
<span class="medgenPMjournal">Am J Dermatopathol</span>
2017 Jun;39(6):440-444.
doi: 10.1097/DAD.0000000000000674.
<span class="bold">PMID: </span><a href="/pubmed/28121638" target="_blank">28121638</a><a href="/pmc/articles/PMC5489912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24096702">Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kiritsi D,
Nanda A,
Kohlhase J,
Bernhard C,
Bruckner-Tuderman L,
Happle R,
Has C</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2014 May;94(3):346-8.
doi: 10.2340/00015555-1695.
<span class="bold">PMID: </span><a href="/pubmed/24096702" target="_blank">24096702</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolytic%20ichthyosis%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38123340">Expression of hornerin in skin lesions of atopic dermatitis and skin diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Makino T,
Mizawa M,
Takemoto K,
Shimizu T</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2024 Feb 14;49(3):255-258.
doi: 10.1093/ced/llad297.
<span class="bold">PMID: </span><a href="/pubmed/38123340" target="_blank">38123340</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36656063">Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ansai O,
Miyauchi T,
Hayashi R,
Katsumi T,
Nishiguchi T,
Hasegawa A,
Shinkuma S,
Natsuga K,
Nomura T,
Shimomura Y,
Abe R</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2023 Mar 1;48(3):199-210.
doi: 10.1093/ced/llac069.
<span class="bold">PMID: </span><a href="/pubmed/36656063" target="_blank">36656063</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35218370">Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lefferdink R,
Rangel SM,
Chima M,
Ibler E,
Pavel AB,
Kim H,
Wu B,
Abu-Zayed H,
Wu J,
Jackson K,
Singer G,
Choate KA,
Guttman-Yassky E,
Paller AS</span><br />
<span class="medgenPMjournal">Arch Dermatol Res</span>
2023 Mar;315(2):305-315.
Epub 2022 Feb 26
doi: 10.1007/s00403-022-02325-3.
<span class="bold">PMID: </span><a href="/pubmed/35218370" target="_blank">35218370</a><a href="/pmc/articles/PMC10234080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28121638">Epidermolytic Ichthyosis Sine Epidermolysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eskin-Schwartz M,
Drozhdina M,
Sarig O,
Gat A,
Jackman T,
Isakov O,
Shomron N,
Samuelov L,
Malchin N,
Peled A,
Vodo D,
Hovnanian A,
Ruzicka T,
Koshkin S,
Harmon RM,
Koetsier JL,
Green KJ,
Paller AS,
Sprecher E</span><br />
<span class="medgenPMjournal">Am J Dermatopathol</span>
2017 Jun;39(6):440-444.
doi: 10.1097/DAD.0000000000000674.
<span class="bold">PMID: </span><a href="/pubmed/28121638" target="_blank">28121638</a><a href="/pmc/articles/PMC5489912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25620412">Keratins and skin disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knöbel M,
O'Toole EA,
Smith FJ</span><br />
<span class="medgenPMjournal">Cell Tissue Res</span>
2015 Jun;360(3):583-9.
Epub 2015 Jan 27
doi: 10.1007/s00441-014-2105-4.
<span class="bold">PMID: </span><a href="/pubmed/25620412" target="_blank">25620412</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epidermolytic%20ichthyosis%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 (20)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0079153%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
<li><a href="/gtr/tests?term=C0079153%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
<li><a href="/gtr/tests?term=C0079153%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0079153%5bDISCUI%5d" target="_blank">See all (21)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS113800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=312" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Epidermolytic%20ichthyosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epidermolytic%20ichthyosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/epidermolytic_hyperkeratosis_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Epidermolytic%20ichthyosis" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1039/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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