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<meta name="keywords" content="C1866029, disease or syndrome, keratosis linearis with ichthyosis congenita and sclerosing keratoderma, keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome, keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, klick, klick syndrome, pomp, 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="Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) is an autosomal recessive disorder of keratinization characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers, and keratotic papules in a linear distribution on the flexural side of large joints. Histologic examination shows hypertrophy and hyperplasia of the spinous, granular, and horny epidermal layers, with abundant abnormal keratohyaline granules in differentiated keratinocytes (summary by Dahlqvist et al., 2010)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (Concept Id: C1866029)
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<!--
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UID=356430
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ConceptID=C1866029
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome<span class="h1sub">(KLICK)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356430</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1866029</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>Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>KLICK syndrome (763775000); Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (763775000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help 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="POMP - ID: 51371 - NCBI Gene" href="/gene/51371" class="medgenPMinfo">POMP</a> (13q12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011169" target="_blank">MONDO:0011169</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601952" target="_blank">601952</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=281201">ORPHA281201</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">Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) is an autosomal recessive disorder of keratinization characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers, and keratotic papules in a linear distribution on the flexural side of large joints. Histologic examination shows hypertrophy and hyperplasia of the spinous, granular, and horny epidermal layers, with abundant abnormal keratohyaline granules in differentiated keratinocytes (summary by Dahlqvist et al., 2010). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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||
<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_1787619"><div><strong>Honeycomb palmoplantar hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787619</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.">C5539406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787619">Feature record</a> | <a href="/medgen?term=%22Honeycomb%20palmoplantar%20hyperkeratosis%22%5BClinical%20Features%5D%20OR%201787619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7002"><div><strong>Ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7002</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.">C0020757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7002">Feature record</a> | <a href="/medgen?term=%22Ichthyosis%22%5BClinical%20Features%5D%20OR%207002%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10572"><div><strong>Parakeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10572</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.">C0030436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10572">Feature record</a> | <a href="/medgen?term=%22Parakeratosis%22%5BClinical%20Features%5D%20OR%2010572%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_38180"><div><strong>Congenital nonbullous ichthyosiform erythroderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38180</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.">C0079154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38180">Feature record</a> | <a href="/medgen?term=%22Congenital%20nonbullous%20ichthyosiform%20erythroderma%22%5BClinical%20Features%5D%20OR%2038180%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_488894"><div><strong>Hyperconvex nail</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488894</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.">C0423807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488894">Feature record</a> | <a href="/medgen?term=%22Hyperconvex%20nail%22%5BClinical%20Features%5D%20OR%20488894%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355608"><div><strong>Linear arrays of macular hyperkeratoses in flexural areas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355608</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.">C1866031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355608">Feature record</a> | <a href="/medgen?term=%22Linear%20arrays%20of%20macular%20hyperkeratoses%20in%20flexural%20areas%22%5BClinical%20Features%5D%20OR%20355608%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_315953"><div><strong>Amniotic constriction ring</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315953</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.">C1527388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315953">Feature record</a> | <a href="/medgen?term=%22Amniotic%20constriction%20ring%22%5BClinical%20Features%5D%20OR%20315953%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_1787619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Honeycomb palmoplantar hyperkeratosis</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315953" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amniotic constriction ring</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_38180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital nonbullous ichthyosiform erythroderma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperconvex nail</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355608" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear arrays of macular hyperkeratoses in flexural areas</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10572" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parakeratosis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866029[DISCUI]&test_type=Clinical" ref="ncbi_uid=356430">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356430" target="_blank" href="/omim/601952">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&from_uid=356430" ref="ncbi_uid=356430">V</a></span></span><span class="TLline">Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843105" ref="tree=MeSH" title="MedGen record for Autosomal dominant diffuse mutilating palmoplantar keratoderma">Autosomal dominant diffuse mutilating palmoplantar keratoderma</a></span><ul><li><span class="matched_ds">Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome</span></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=20533&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34657339">Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takeuchi S,
|
||
Takeichi T,
|
||
Koike Y,
|
||
Takama H,
|
||
Tanahashi K,
|
||
Okuno Y,
|
||
Ishii N,
|
||
Muro Y,
|
||
Ogi T,
|
||
Suga Y,
|
||
Akiyama M</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2022 Mar;36(3):e215-e218.
|
||
Epub 2021 Oct 27
|
||
doi: 10.1111/jdv.17752.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34657339" target="_blank">34657339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147745">Diagnosis and Management of Inherited Palmoplantar Keratodermas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas BR,
|
||
O'Toole EA</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2020 Mar 25;100(7):adv00094.
|
||
doi: 10.2340/00015555-3430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147745" target="_blank">32147745</a><a href="/pmc/articles/PMC9128927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26381864">Ichthyosis with confetti: clinics, molecular genetics and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerra L,
|
||
Diociaiuti A,
|
||
El Hachem M,
|
||
Castiglia D,
|
||
Zambruno G</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Sep 17;10:115.
|
||
doi: 10.1186/s13023-015-0336-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26381864" target="_blank">26381864</a><a href="/pmc/articles/PMC4573700" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome)%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 (15)</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/32147745">Diagnosis and Management of Inherited Palmoplantar Keratodermas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas BR,
|
||
O'Toole EA</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2020 Mar 25;100(7):adv00094.
|
||
doi: 10.2340/00015555-3430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147745" target="_blank">32147745</a><a href="/pmc/articles/PMC9128927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25387514">Syndrome in question. Costello syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peixoto IL,
|
||
Carreno AM,
|
||
Prazeres VM,
|
||
Chirano CA,
|
||
Ihara GM,
|
||
Akel PB</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2014 Nov-Dec;89(6):1005-6.
|
||
doi: 10.1590/abd1806-4841.20143062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25387514" target="_blank">25387514</a><a href="/pmc/articles/PMC4230678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21855730">Cutaneous paraneoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramos-E-Silva M,
|
||
Carvalho JC,
|
||
Carneiro SC</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2011 Sep-Oct;29(5):541-7.
|
||
doi: 10.1016/j.clindermatol.2010.09.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21855730" target="_blank">21855730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9344189">The use of topical calcipotriene/calcipotriol in conditions other than plaque-type psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiers BH</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1997 Sep;37(3 Pt 2):S69-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9344189" target="_blank">9344189</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6222004">Papillon-Lefèvre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landow RK,
|
||
Cheung H,
|
||
Bauer M</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1983 Apr;22(3):177-9.
|
||
doi: 10.1111/j.1365-4362.1983.tb03359.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6222004" target="_blank">6222004</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome%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 (85)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38055272">Olmsted Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang YY,
|
||
Li JH</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2024 Feb 1;160(2):218-219.
|
||
doi: 10.1001/jamadermatol.2023.4152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38055272" target="_blank">38055272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32745176">Bart-Pumphrey Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Hamdi KI,
|
||
Qais Saadoon A,
|
||
Abduljabbar NH</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2020 Oct 1;156(10):1126.
|
||
doi: 10.1001/jamadermatol.2020.2555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32745176" target="_blank">32745176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147745">Diagnosis and Management of Inherited Palmoplantar Keratodermas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas BR,
|
||
O'Toole EA</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2020 Mar 25;100(7):adv00094.
|
||
doi: 10.2340/00015555-3430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147745" target="_blank">32147745</a><a href="/pmc/articles/PMC9128927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27178686">The cutaneous manifestations of gastrointestinal malignancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schadt CR</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2016 Jun;43(3):341-6.
|
||
Epub 2016 Feb 23
|
||
doi: 10.1053/j.seminoncol.2016.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27178686" target="_blank">27178686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16816500">Naxos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adhisivam B,
|
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Mahadevan S</span><br />
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<span class="medgenPMjournal">Indian J Pediatr</span>
|
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2006 Apr;73(4):359-60.
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/16816500" target="_blank">16816500</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome%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 (271)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38439631">Acquired Aquagenic Syringeal Keratoderma Following COVID-19 Infection.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Polascik BW,
|
||
Karklins SP,
|
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Johnson MC,
|
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Hammert WC,
|
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McMichael AJ</span><br />
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<span class="medgenPMjournal">Hand (N Y)</span>
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2025 Jan;20(1):NP12-NP19.
|
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Epub 2024 Mar 4
|
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doi: 10.1177/15589447241233371.
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<span class="bold">PMID: </span><a href="/pubmed/38439631" target="_blank">38439631</a><a href="/pmc/articles/PMC11559743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36709954">Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butala S,
|
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Phan S,
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Siegel DH,
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Carlberg V,
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Paller AS</span><br />
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<span class="medgenPMjournal">Pediatr Dermatol</span>
|
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2023 Jul-Aug;40(4):735-737.
|
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Epub 2023 Jan 29
|
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doi: 10.1111/pde.15264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36709954" target="_blank">36709954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17344790">Olmsted syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali ME,
|
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Sikdar AU,
|
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Akhtar N,
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Islam ZM</span><br />
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<span class="medgenPMjournal">Mymensingh Med J</span>
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2007 Jan;16(1):100-3.
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<span class="bold">PMID: </span><a href="/pubmed/17344790" target="_blank">17344790</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16800355">Papillon Lefevre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhadke SV,
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Kulkarni PM,
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Dhadke VN,
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Deshpande NS,
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<span class="medgenPMjournal">J Assoc Physicians India</span>
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2006 Mar;54:246-7.
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<span class="bold">PMID: </span><a href="/pubmed/16800355" target="_blank">16800355</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9344189">The use of topical calcipotriene/calcipotriol in conditions other than plaque-type psoriasis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Thiers BH</span><br />
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
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1997 Sep;37(3 Pt 2):S69-71.
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<span class="bold">PMID: </span><a href="/pubmed/9344189" target="_blank">9344189</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome%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 (101)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38439631">Acquired Aquagenic Syringeal Keratoderma Following COVID-19 Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polascik BW,
|
||
Karklins SP,
|
||
Johnson MC,
|
||
Hammert WC,
|
||
McMichael AJ</span><br />
|
||
<span class="medgenPMjournal">Hand (N Y)</span>
|
||
2025 Jan;20(1):NP12-NP19.
|
||
Epub 2024 Mar 4
|
||
doi: 10.1177/15589447241233371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38439631" target="_blank">38439631</a><a href="/pmc/articles/PMC11559743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21855730">Cutaneous paraneoplasia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ramos-E-Silva M,
|
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Carvalho JC,
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Carneiro SC</span><br />
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<span class="medgenPMjournal">Clin Dermatol</span>
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2011 Sep-Oct;29(5):541-7.
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doi: 10.1016/j.clindermatol.2010.09.022.
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<span class="bold">PMID: </span><a href="/pubmed/21855730" target="_blank">21855730</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17925001">Genetics of gastroesophageal cancer: paradigms, paradoxes, and prognostic utility.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Robertson EV,
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Jankowski JA</span><br />
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<span class="medgenPMjournal">Am J Gastroenterol</span>
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2008 Feb;103(2):443-9.
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Epub 2007 Oct 9
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doi: 10.1111/j.1572-0241.2007.01574.x.
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<span class="bold">PMID: </span><a href="/pubmed/17925001" target="_blank">17925001</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/16816500">Naxos disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adhisivam B,
|
||
Mahadevan S</span><br />
|
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<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2006 Apr;73(4):359-60.
|
||
doi: 10.1007/BF02825834.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16816500" target="_blank">16816500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9068437">Olmsted's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AP,
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Percival N</span><br />
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<span class="medgenPMjournal">J R Soc Med</span>
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1997 Feb;90(2):81-2.
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome%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 (84)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35467044">Dermoscopic furrow ink test of the palmar lesion in loricrin keratoderma.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Shirahama T,
|
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Hamada T,
|
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Abe T,
|
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Arakawa M,
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Teye K,
|
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Koga H,
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Ishii N,
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Nakama T</span><br />
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<span class="medgenPMjournal">J Dermatol</span>
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||
2022 Aug;49(8):783-786.
|
||
Epub 2022 Apr 25
|
||
doi: 10.1111/1346-8138.16405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35467044" target="_blank">35467044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18401176">Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakajima K,
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Nakano H,
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Takiyoshi N,
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Rokunohe A,
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Ikenaga S,
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Aizu T,
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Kaneko T,
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<span class="medgenPMjournal">Dermatology</span>
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2008;217(1):58-62.
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||
Epub 2008 Apr 9
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||
doi: 10.1159/000124340.
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<span class="bold">PMID: </span><a href="/pubmed/18401176" target="_blank">18401176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18319008">KID syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abdollahi A,
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Hallaji Z,
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Esmaili N,
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Valikhani M,
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Barzegari M,
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Akhyani M,
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Toosi S,
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Miresmaili A</span><br />
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<span class="medgenPMjournal">Dermatol Online J</span>
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2007 Oct 13;13(4):11.
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||
<span class="bold">PMID: </span><a href="/pubmed/18319008" target="_blank">18319008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11401671">Olmsted syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fonseca E,
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Peña C,
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Del Pozo J,
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<span class="medgenPMjournal">J Cutan Pathol</span>
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||
2001 May;28(5):271-5.
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||
doi: 10.1034/j.1600-0560.2001.028005271.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11401671" target="_blank">11401671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/154478">Papillon-Lefevre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma KC,
|
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Chaddha MK,
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<span class="medgenPMjournal">Int J Dermatol</span>
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1979 Mar;18(2):146-9.
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<span class="bold">PMID: </span><a href="/pubmed/154478" target="_blank">154478</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome%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 (105)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/26399581">Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polivka L,
|
||
Bodemer C,
|
||
Hadj-Rabia S</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2016 May;53(5):289-95.
|
||
Epub 2015 Sep 23
|
||
doi: 10.1136/jmedgenet-2015-103403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26399581" target="_blank">26399581</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20linearis-ichthyosis%20congenita-sclerosing%20keratoderma%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1866029%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
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<li><a href="/gtr/tests?term=C1866029%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
|
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<li><a href="/gtr/tests?term=C1866029%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1866029%5bDISCUI%5d" target="_blank">See all (21)</a></total></li>
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