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<meta name="keywords" content="C4551630, arci1, autosomal recessive congenital ichthyosis 1, autosomal recessive congenital ichthyosis type 1, collodion baby, self-healing, collodion fetus, collodion foetus, desquamation of newborn, disease or syndrome, ichthyosis congenita, ichthyosis congenita 2, ichthyosis congenita i, ichthyosis congenita ii, ichthyosis lamellar 1, ichthyosis, congenital, autosomal recessive 1, ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution, ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution, ichthyosis, congenital, autosomal recessive type 1, ichthyosis, lamellar, 1, ichthyosis, lamellar, 1, formerly, lamellar exfoliation of newborn, lamellar ichthyosis, type 1, li1, li1, formerly, tgm1, 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="Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1635401
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ConceptID=C4551630
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive congenital ichthyosis 1<span class="h1sub">(LI1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635401</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:">C4551630</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>COLLODION FETUS; DESQUAMATION OF NEWBORN; ICHTHYOSIS CONGENITA; ICHTHYOSIS CONGENITA II; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING SUIT DISTRIBUTION; LAMELLAR EXFOLIATION OF NEWBORN; Lamellar ichthyosis, type 1; LI1</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="TGM1 - ID: 7051 - NCBI Gene" href="/gene/7051" class="medgenPMinfo">TGM1</a> (14q12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009441" target="_blank">MONDO:0009441</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/242300" target="_blank">242300</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<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">Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
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</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_44017"><div><strong>Palmoplantar keratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44017</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44017">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratosis%22%5BClinical%20Features%5D%20OR%2044017%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83069"><div><strong>Flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83069</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.">C0333068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83069">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%22%5BClinical%20Features%5D%20OR%2083069%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3767"><div><strong>Erythroderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3767</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.">C0011606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3767">Feature record</a> | <a href="/medgen?term=%22Erythroderma%22%5BClinical%20Features%5D%20OR%203767%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4448"><div><strong>Ectropion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4448</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.">C0013592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An outward turning (eversion) or rotation of the eyelid margin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4448">Feature record</a> | <a href="/medgen?term=%22Ectropion%22%5BClinical%20Features%5D%20OR%204448%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344003"><div><strong>Everted lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344003</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.">C1853246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344003">Feature record</a> | <a href="/medgen?term=%22Everted%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20344003%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7982"><div><strong>Alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7982</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.">C0002170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A noncongenital process of hair loss, which may progress to partial or complete baldness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7982">Feature record</a> | <a href="/medgen?term=%22Alopecia%22%5BClinical%20Features%5D%20OR%207982%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_86936"><div><strong>Congenital ichthyosiform erythroderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86936</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.">C0079583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ichthyosiform abnormality of the skin with congenital onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86936">Feature record</a> | <a href="/medgen?term=%22Congenital%20ichthyosiform%20erythroderma%22%5BClinical%20Features%5D%20OR%2086936%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_65136"><div><strong>Epidermal acanthosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65136</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.">C0221270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65136">Feature record</a> | <a href="/medgen?term=%22Epidermal%20acanthosis%22%5BClinical%20Features%5D%20OR%2065136%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331737"><div><strong>Nail dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of developmental dysplasia of the nail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331737">Feature record</a> | <a href="/medgen?term=%22Nail%20dysplasia%22%5BClinical%20Features%5D%20OR%20331737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790211"><div><strong>Sparse hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790211</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.">C5551005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced density of hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790211">Feature record</a> | <a href="/medgen?term=%22Sparse%20hair%22%5BClinical%20Features%5D%20OR%201790211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334143"><div><strong>Desquamation of skin soon after birth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334143</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.">C1842714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334143">Feature record</a> | <a href="/medgen?term=%22Desquamation%20of%20skin%20soon%20after%20birth%22%5BClinical%20Features%5D%20OR%20334143%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectropion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Everted lower lip vermilion</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratosis</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334143" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desquamation of skin soon after birth</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythroderma</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_7982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alopecia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital ichthyosiform erythroderma</a></span></li><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_65136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermal acanthosis</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_331737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse hair</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture</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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0020758[DISCUI]&test_type=Clinical" ref="ncbi_uid=43813">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=43813" target="_blank" href="/omim/242300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=43813">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=43813" ref="ncbi_uid=43813">V</a></span></span><span class="TLline"><a href="/medgen/43813" ref="tree=GTR&ncbi_uid=43813&link_uid=43813" title="View MedGen record for 'Congenital ichthyosis of skin'">Congenital ichthyosis of skin</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551630[DISCUI]&test_type=Clinical" ref="ncbi_uid=1635401">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1635401" target="_blank" href="/omim/190195">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=1635401">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1635401" ref="ncbi_uid=1635401">V</a></span></span><span class="TLline">Autosomal recessive congenital ichthyosis 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3888093[DISCUI]&test_type=Clinical" ref="ncbi_uid=854762">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854762" target="_blank" href="/omim/242100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=854762">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854762" ref="ncbi_uid=854762">V</a></span></span><span class="TLline"><a href="/medgen/854762" ref="tree=GTR&ncbi_uid=854762&link_uid=854762" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 2'">Autosomal recessive congenital ichthyosis 2</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=C3539888[DISCUI]&test_type=Clinical" ref="ncbi_uid=761665">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761665" target="_blank" href="/omim/606545">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=761665" ref="ncbi_uid=761665">V</a></span></span><span class="TLline"><a href="/medgen/761665" ref="tree=GTR&ncbi_uid=761665&link_uid=761665" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 3'">Autosomal recessive congenital ichthyosis 3</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=C1858133[DISCUI]&test_type=Clinical" ref="ncbi_uid=347628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347628" target="_blank" href="/omim/604777">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=347628" ref="ncbi_uid=347628">V</a></span></span><span class="TLline"><a href="/medgen/347628" ref="tree=GTR&ncbi_uid=347628&link_uid=347628" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 5'">Autosomal recessive congenital ichthyosis 5</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=C2677065[DISCUI]&test_type=Clinical" ref="ncbi_uid=436851">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436851" target="_blank" href="/omim/609383">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=436851">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436851" ref="ncbi_uid=436851">V</a></span></span><span class="TLline"><a href="/medgen/436851" ref="tree=GTR&ncbi_uid=436851&link_uid=436851" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 6'">Autosomal recessive congenital ichthyosis 6</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=767262" target="_blank" href="/omim/615022">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/767262" ref="tree=GTR&ncbi_uid=767262&link_uid=767262" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 7'">Autosomal recessive congenital ichthyosis 7</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=C3553029[DISCUI]&test_type=Clinical" ref="ncbi_uid=765943">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765943" target="_blank" href="/omim/613924">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=765943">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=765943" ref="ncbi_uid=765943">V</a></span></span><span class="TLline"><a href="/medgen/765943" ref="tree=GTR&ncbi_uid=765943&link_uid=765943" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 8'">Autosomal recessive congenital ichthyosis 8</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=C3554349[DISCUI]&test_type=Clinical" ref="ncbi_uid=767263">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767263" target="_blank" href="/omim/615023">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=767263">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767263" ref="ncbi_uid=767263">V</a></span></span><span class="TLline"><a href="/medgen/767263" ref="tree=GTR&ncbi_uid=767263&link_uid=767263" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 9'">Autosomal recessive congenital ichthyosis 9</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=C3554355[DISCUI]&test_type=Clinical" ref="ncbi_uid=767269">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767269" target="_blank" href="/omim/612121">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=767269" ref="ncbi_uid=767269">V</a></span></span><span class="TLline"><a href="/medgen/767269" ref="tree=GTR&ncbi_uid=767269&link_uid=767269" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 10'">Autosomal recessive congenital ichthyosis 10</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=C1832550[DISCUI]&test_type=Clinical" ref="ncbi_uid=371355">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371355" target="_blank" href="/omim/601277">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=371355">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371355" ref="ncbi_uid=371355">V</a></span></span><span class="TLline"><a href="/medgen/371355" ref="tree=GTR&ncbi_uid=371355&link_uid=371355" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 4A'">Autosomal recessive congenital ichthyosis 4A</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=C0598226[DISCUI]&test_type=Clinical" ref="ncbi_uid=108615">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=108615" target="_blank" href="/omim/242500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1420/" ref="ncbi_uid=108615">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=108615" ref="ncbi_uid=108615">V</a></span></span><span class="TLline"><a href="/medgen/108615" ref="tree=GTR&ncbi_uid=108615&link_uid=108615" title="View MedGen record for 'Autosomal recessive congenital ichthyosis 4B'">Autosomal recessive congenital ichthyosis 4B</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/43813" ref="tree=MeSH" title="MedGen record for Congenital ichthyosis of skin">Congenital ichthyosis of skin</a></span><ul><li><span class="matched_ds">Autosomal recessive congenital ichthyosis 1</span></li></ul></li></ul></div></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/35840979">New developments in the molecular treatment of ichthyosis: review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joosten MDW,
|
||
Clabbers JMK,
|
||
Jonca N,
|
||
Mazereeuw-Hautier J,
|
||
Gostyński AH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jul 15;17(1):269.
|
||
doi: 10.1186/s13023-022-02430-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35840979" target="_blank">35840979</a><a href="/pmc/articles/PMC9287901" 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/27999114">Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glick JB,
|
||
Craiglow BG,
|
||
Choate KA,
|
||
Kato H,
|
||
Fleming RE,
|
||
Siegfried E,
|
||
Glick SA</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2017 Jan;139(1)
|
||
Epub 2016 Dec 20
|
||
doi: 10.1542/peds.2016-1003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27999114" target="_blank">27999114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20recessive%20congenital%20ichthyosis%201)%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 (17)</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/37542530">Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Macriz-Romero N,
|
||
Vera-Duarte GR,
|
||
Guerrero-Becerril J,
|
||
Chacón-Camacho OF,
|
||
Astiazarán MC,
|
||
Zenteno JC,
|
||
Graue-Hernandez EO</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2023 Oct;43(10):3659-3665.
|
||
Epub 2023 Aug 5
|
||
doi: 10.1007/s10792-023-02774-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37542530" target="_blank">37542530</a><a href="/pmc/articles/PMC10504104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36262015">Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Supsrisunjai C,
|
||
Bunnag T,
|
||
Chaowalit P,
|
||
Boonpuen N,
|
||
Kootiratrakarn T,
|
||
Wessagowit V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2023 Jan;40(1):107-112.
|
||
Epub 2022 Oct 19
|
||
doi: 10.1111/pde.15156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36262015" target="_blank">36262015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181410">Nail involvement in autosomal recessive congenital ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaouak A,
|
||
Chamli A,
|
||
Ben Mansour N,
|
||
Jouini W,
|
||
Fenniche S,
|
||
Hammami H</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2022 Jul-Aug;40(4):388-394.
|
||
Epub 2022 Feb 15
|
||
doi: 10.1016/j.clindermatol.2022.02.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181410" target="_blank">35181410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30706883">Neu Laxova syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwivedi T,
|
||
Gosavi M</span><br />
|
||
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
|
||
2019 Jan-Mar;62(1):149-152.
|
||
doi: 10.4103/IJPM.IJPM_351_17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30706883" target="_blank">30706883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23562412">Autosomal recessive congenital ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Pazos L,
|
||
Ginarte M,
|
||
Vega A,
|
||
Toribio J</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2013 May;104(4):270-84.
|
||
Epub 2013 Apr 3
|
||
doi: 10.1016/j.adengl.2011.11.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23562412" target="_blank">23562412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20congenital%20ichthyosis%201%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 (78)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181410">Nail involvement in autosomal recessive congenital ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaouak A,
|
||
Chamli A,
|
||
Ben Mansour N,
|
||
Jouini W,
|
||
Fenniche S,
|
||
Hammami H</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2022 Jul-Aug;40(4):388-394.
|
||
Epub 2022 Feb 15
|
||
doi: 10.1016/j.clindermatol.2022.02.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181410" target="_blank">35181410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33455044">Chanarin-Dorfman Syndrome: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak E,
|
||
Bagci G</span><br />
|
||
<span class="medgenPMjournal">Liver Int</span>
|
||
2021 May;41(5):905-914.
|
||
Epub 2021 Mar 18
|
||
doi: 10.1111/liv.14794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33455044" target="_blank">33455044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31883158">Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akbar A,
|
||
Bint-E-Farrakh M,
|
||
Crosby AH,
|
||
Gul A,
|
||
Harlalka GV</span><br />
|
||
<span class="medgenPMjournal">Congenit Anom (Kyoto)</span>
|
||
2020 Sep;60(5):149-150.
|
||
Epub 2020 Jan 9
|
||
doi: 10.1111/cga.12366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31883158" target="_blank">31883158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30457558">Chanarin-Dorfman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalyon S,
|
||
Gökden Y,
|
||
Demirel N,
|
||
Erden B,
|
||
Türkyılmaz A</span><br />
|
||
<span class="medgenPMjournal">Turk J Gastroenterol</span>
|
||
2019 Jan;30(1):105-108.
|
||
doi: 10.5152/tjg.2018.18014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30457558" target="_blank">30457558</a><a href="/pmc/articles/PMC6389303" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23562412">Autosomal recessive congenital ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Pazos L,
|
||
Ginarte M,
|
||
Vega A,
|
||
Toribio J</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2013 May;104(4):270-84.
|
||
Epub 2013 Apr 3
|
||
doi: 10.1016/j.adengl.2011.11.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23562412" target="_blank">23562412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20congenital%20ichthyosis%201%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 (108)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39143029">Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palacios-Diaz RD,
|
||
Pozuelo-Ruiz M,
|
||
Martínez-Castellano F,
|
||
Évole-Buselli M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2025 Jan-Feb;42(1):118-120.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1111/pde.15716.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39143029" target="_blank">39143029</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/26721572">Vitamin D: A New Promising Therapy for Congenital Ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethuraman G,
|
||
Marwaha RK,
|
||
Challa A,
|
||
Yenamandra VK,
|
||
Ramakrishnan L,
|
||
Thulkar S,
|
||
Sharma VK</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Jan;137(1)
|
||
Epub 2015 Dec 31
|
||
doi: 10.1542/peds.2015-1313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26721572" target="_blank">26721572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24733442">Anti-laminin-γ1 pemphigoid developed in a case of autosomal recessive congenital ichthyosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohzono A,
|
||
Numata S,
|
||
Hamada T,
|
||
Fukuda S,
|
||
Teye K,
|
||
Shirakashi Y,
|
||
Kasai H,
|
||
Koga H,
|
||
Ishii N,
|
||
Sugiura M,
|
||
Hashimoto T</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
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2015 Jan;95(1):93-4.
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|
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<span class="bold">PMID: </span><a href="/pubmed/24733442" target="_blank">24733442</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/12553849">Ichthyosis: etiology, diagnosis, and management.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">DiGiovanna JJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20congenital%20ichthyosis%201%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 (25)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35920354">Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mohamad J,
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Samuelov L,
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Assaf S,
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Malki L,
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Malovitski K,
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Meijers O,
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Adir N,
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Granot E,
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Pavlovsky M,
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Sarig O,
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Sprecher E</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2022 Oct;188(10):2879-2887.
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Epub 2022 Aug 3
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doi: 10.1002/ajmg.a.62924.
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<span class="bold">PMID: </span><a href="/pubmed/35920354" target="_blank">35920354</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31081706">Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Karim N,
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Ullah A,
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Murtaza G,
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Naeem M</span><br />
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<span class="medgenPMjournal">Genet Test Mol Biomarkers</span>
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2019 Jun;23(6):428-432.
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Epub 2019 May 13
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doi: 10.1089/gtmb.2018.0310.
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<span class="bold">PMID: </span><a href="/pubmed/31081706" target="_blank">31081706</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30706883">Neu Laxova syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dwivedi T,
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Gosavi M</span><br />
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<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
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2019 Jan-Mar;62(1):149-152.
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doi: 10.4103/IJPM.IJPM_351_17.
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<span class="bold">PMID: </span><a href="/pubmed/30706883" target="_blank">30706883</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28815464">Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vahlquist A,
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Fischer J,
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Törmä H</span><br />
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<span class="medgenPMjournal">Am J Clin Dermatol</span>
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2018 Feb;19(1):51-66.
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doi: 10.1007/s40257-017-0313-x.
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<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>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/28017832">Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gruber R,
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Rogerson C,
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Windpassinger C,
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Banushi B,
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Straatman-Iwanowska A,
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Hanley J,
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Forneris F,
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Strohal R,
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Ulz P,
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Crumrine D,
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Menon GK,
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Blunder S,
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Schmuth M,
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Müller T,
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Smith H,
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Mills K,
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Kroisel P,
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<span class="medgenPMjournal">J Invest Dermatol</span>
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2017 Apr;137(4):845-854.
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Epub 2016 Dec 23
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<span class="bold">PMID: </span><a href="/pubmed/28017832" target="_blank">28017832</a><a href="/pmc/articles/PMC5358661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20congenital%20ichthyosis%201%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 (39)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38588653">Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Diociaiuti A,
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Corbeddu M,
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Rossi S,
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Pisaneschi E,
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Cesario C,
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Condorelli AG,
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Samela T,
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Giancristoforo S,
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Angioni A,
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Zambruno G,
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Novelli A,
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Alaggio R,
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Abeni D,
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El Hachem M</span><br />
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<span class="medgenPMjournal">Dermatology</span>
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2024;240(3):397-413.
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Epub 2024 Apr 8
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doi: 10.1159/000536366.
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<span class="bold">PMID: </span><a href="/pubmed/38588653" target="_blank">38588653</a><a href="/pmc/articles/PMC11168449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37918441">Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bolsoni J,
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Liu D,
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Mohabatpour F,
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Ebner R,
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Sadhnani G,
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Tafech B,
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Leung J,
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Shanta S,
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An K,
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Morin T,
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Chen Y,
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Arguello A,
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Choate K,
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Jan E,
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Ross CJD,
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Brambilla D,
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Witzigmann D,
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Kulkarni J,
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Cullis PR,
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Hedtrich S</span><br />
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<span class="medgenPMjournal">ACS Nano</span>
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2023 Nov 14;17(21):22046-22059.
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Epub 2023 Nov 2
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doi: 10.1021/acsnano.3c08644.
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||
<span class="bold">PMID: </span><a href="/pubmed/37918441" target="_blank">37918441</a><a href="/pmc/articles/PMC10655174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35920354">Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohamad J,
|
||
Samuelov L,
|
||
Assaf S,
|
||
Malki L,
|
||
Malovitski K,
|
||
Meijers O,
|
||
Adir N,
|
||
Granot E,
|
||
Pavlovsky M,
|
||
Sarig O,
|
||
Sprecher E</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Oct;188(10):2879-2887.
|
||
Epub 2022 Aug 3
|
||
doi: 10.1002/ajmg.a.62924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35920354" target="_blank">35920354</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31081706">Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karim N,
|
||
Ullah A,
|
||
Murtaza G,
|
||
Naeem M</span><br />
|
||
<span class="medgenPMjournal">Genet Test Mol Biomarkers</span>
|
||
2019 Jun;23(6):428-432.
|
||
Epub 2019 May 13
|
||
doi: 10.1089/gtmb.2018.0310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31081706" target="_blank">31081706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25180191">A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaigundan D,
|
||
Kalmankar NV,
|
||
Krishnappa J,
|
||
Gowda NY,
|
||
Kutty AV,
|
||
Krishnaswamy PR</span><br />
|
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<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2014;2014:706827.
|
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Epub 2014 Aug 10
|
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<span class="bold">PMID: </span><a href="/pubmed/25180191" target="_blank">25180191</a><a href="/pmc/articles/PMC4142565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20congenital%20ichthyosis%201%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 (53)</a></div></div>
|
||
</div>
|
||
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551630%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
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<li><a href="/gtr/tests?term=C4551630%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
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<li><a href="/gtr/tests?term=C4551630%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (9)</a></li>
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<li><a href="/gtr/tests?term=C4551630%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
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<li><a href="/gtr/tests?term=C4551630%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551630%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20recessive%20congenital%20ichthyosis%201)%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="http://www.diseaseinfosearch.org/Congenital+Ichthyosis/1846" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/ichthyosis_congenital_autosomal_recessive_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20recessive%20congenital%20ichthyosis%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3170/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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|
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<a href="/pubmed?term=Autosomal%20recessive%20congenital%20ichthyosis%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4835a68b6b5afc3d169e">Autosomal recessive congenital ichthyosis 1</a>
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