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<meta name="keywords" content="?keratosis pilaris atrophicans, C0263428, amelogenesis imperfecta, hypoplastic-hypomaturation, x-linked 2, atrophodermia reticulata, atrophodermia reticulata symmetrica faciei, atrophodermia vermiculata, burnett schwartz berberian syndrome, disease or syndrome, folliculitis ulerythematosa, folliculitis ulerythematosa reticulata, honeycomb atrophy, keratosis pilaris, keratosis pilaris atrophicans, keratosis pilaris atrophicans facies, kpa, lrp1, ulerythema ophryogenes, ulerythema ophryogenes with multiple congenital anomalies, ulerythema ophryogenesis, 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 pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=75520
|
||
ConceptID=C0263428
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Keratosis pilaris atrophicans<span class="h1sub">(KPA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75520</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:">C0263428</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 pilaris atrophicans; Burnett Schwartz Berberian syndrome; KPA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Keratosis pilaris atrophicans (400059005)</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="LRP1 - ID: 4035 - NCBI Gene" href="/gene/4035" class="medgenPMinfo">LRP1</a> (12q13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018855" target="_blank">MONDO:0018855</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604093" target="_blank">604093</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=498">ORPHA498</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>
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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">Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015). [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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_371332"><div><strong>Sparse eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371332</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.">C1832446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased density/number of eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371332">Feature record</a> | <a href="/medgen?term=%22Sparse%20eyebrow%22%5BClinical%20Features%5D%20OR%20371332%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11999"><div><strong>Erythema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11999</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.">C0041834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11999">Feature record</a> | <a href="/medgen?term=%22Erythema%22%5BClinical%20Features%5D%20OR%2011999%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67447"><div><strong>Comedo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67447</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.">C0221228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67447">Feature record</a> | <a href="/medgen?term=%22Comedo%22%5BClinical%20Features%5D%20OR%2067447%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82664"><div><strong>Keratosis pilaris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82664</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.">C0263383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82664">Feature record</a> | <a href="/medgen?term=%22Keratosis%20pilaris%22%5BClinical%20Features%5D%20OR%2082664%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_507324"><div><strong>Papule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>507324</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.">C0332563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/507324">Feature record</a> | <a href="/medgen?term=%22Papule%22%5BClinical%20Features%5D%20OR%20507324%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334299"><div><strong>Absent eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334299</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.">C1843005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of eyelashes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334299">Feature record</a> | <a href="/medgen?term=%22Absent%20eyelashes%22%5BClinical%20Features%5D%20OR%20334299%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1615717"><div><strong>Abnormal perifollicular morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615717</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.">C4531226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural anomaly in the areas surrounding the hair follicles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615717">Feature record</a> | <a href="/medgen?term=%22Abnormal%20perifollicular%20morphology%22%5BClinical%20Features%5D%20OR%201615717%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57518"><div><strong>Epiphora</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57518</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.">C0152227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased lacrimation, that is, excessive tearing (watering eye).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57518">Feature record</a> | <a href="/medgen?term=%22Epiphora%22%5BClinical%20Features%5D%20OR%2057518%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871352"><div><strong>Abnormality of vision</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871352</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.">C4025846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality of eyesight (visual perception).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871352">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20vision%22%5BClinical%20Features%5D%20OR%20871352%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_371332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse eyebrow</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of vision</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphora</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_1615717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal perifollicular morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent eyelashes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Comedo</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis pilaris</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_507324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Papule</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0263428[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=75520">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75520" target="_blank" href="/omim/107770">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=75520" ref="ncbi_uid=75520">V</a></span></span><span class="TLline">Keratosis pilaris atrophicans</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Keratosis pilaris atrophicans</span><ul><li><span class="TLline"><a href="/medgen/82666" ref="tree=MeSH" title="MedGen record for Atrophoderma vermiculatum">Atrophoderma vermiculatum</a></span></li><li><span class="TLline"><a href="/medgen/83355" ref="tree=MeSH" title="MedGen record for Keratosis follicularis spinulosa decalvans">Keratosis follicularis spinulosa decalvans</a></span></li><li><span class="TLline"><a href="/medgen/1813086" ref="tree=MeSH" title="MedGen record for Ulerythema ophryogenesis">Ulerythema ophryogenesis</a></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/37166753">Keratosis pilaris: an update and approach to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
|
||
Patel VM,
|
||
Schwartz RA</span><br />
|
||
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
|
||
2023 Jun;158(3):217-223.
|
||
Epub 2023 May 11
|
||
doi: 10.23736/S2784-8671.23.07594-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32886029">Treatment of keratosis pilaris and its variants: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maghfour J,
|
||
Ly S,
|
||
Haidari W,
|
||
Taylor SL,
|
||
Feldman SR</span><br />
|
||
<span class="medgenPMjournal">J Dermatolog Treat</span>
|
||
2022 May;33(3):1231-1242.
|
||
Epub 2020 Sep 14
|
||
doi: 10.1080/09546634.2020.1818678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32886029" target="_blank">32886029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20590370">Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Lojo R,
|
||
Pozo JD,
|
||
Barja JM,
|
||
Piñeyro F,
|
||
Pérez-Varela L</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2010 Aug;12(4):188-90.
|
||
doi: 10.3109/14764172.2010.502456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20590370" target="_blank">20590370</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22keratosis%20pilaris%20atrophicans%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</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/29545257">Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mao Q,
|
||
Chin R,
|
||
Xie W,
|
||
Deng Y,
|
||
Zhang W,
|
||
Xu H,
|
||
Zhang RY,
|
||
Shi Q,
|
||
Peters EE,
|
||
Gulbahce N,
|
||
Li Z,
|
||
Chen F,
|
||
Drmanac R,
|
||
Peters BA</span><br />
|
||
<span class="medgenPMjournal">Clin Chem</span>
|
||
2018 Apr;64(4):715-725.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1373/clinchem.2017.281220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29545257" target="_blank">29545257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26142438">Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klar J,
|
||
Schuster J,
|
||
Khan TN,
|
||
Jameel M,
|
||
Mäbert K,
|
||
Forsberg L,
|
||
Baig SA,
|
||
Baig SM,
|
||
Dahl N</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Sep;52(9):599-606.
|
||
Epub 2015 Jul 3
|
||
doi: 10.1136/jmedgenet-2014-102931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26142438" target="_blank">26142438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24801913">Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liakou AI,
|
||
Esteves de Carvalho AV,
|
||
Nazarenko LP</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2014 May;41(5):371-6.
|
||
doi: 10.1111/1346-8138.12442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24801913" target="_blank">24801913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20590370">Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Lojo R,
|
||
Pozo JD,
|
||
Barja JM,
|
||
Piñeyro F,
|
||
Pérez-Varela L</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2010 Aug;12(4):188-90.
|
||
doi: 10.3109/14764172.2010.502456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20590370" target="_blank">20590370</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12224702">Keratosis pilaris atrophicans in mother and daughter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khumalo NP,
|
||
Loo WJ,
|
||
Hollowood K,
|
||
Salvary I,
|
||
Graham RM,
|
||
Dawber RP</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2002 Jul;16(4):397-400.
|
||
doi: 10.1046/j.1468-3083.2002.00472.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12224702" target="_blank">12224702</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20pilaris%20atrophicans%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37166753">Keratosis pilaris: an update and approach to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kodali N,
|
||
Patel VM,
|
||
Schwartz RA</span><br />
|
||
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
|
||
2023 Jun;158(3):217-223.
|
||
Epub 2023 May 11
|
||
doi: 10.23736/S2784-8671.23.07594-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37166753" target="_blank">37166753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30043128">Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang JF,
|
||
Orlow SJ</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2018 Oct;19(5):733-757.
|
||
doi: 10.1007/s40257-018-0368-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30043128" target="_blank">30043128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29796690">Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen-Barak E,
|
||
Danial-Farran N,
|
||
Hammad H,
|
||
Aleme O,
|
||
Krauz J,
|
||
Gavish E,
|
||
Khayat M,
|
||
Ziv M,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/24801913">Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liakou AI,
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2014 May;41(5):371-6.
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<div class="nl"><a target="_blank" href="/pubmed/12224702">Keratosis pilaris atrophicans in mother and daughter.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khumalo NP,
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Loo WJ,
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Hollowood K,
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Salvary I,
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Graham RM,
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2002 Jul;16(4):397-400.
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<span class="bold">PMID: </span><a href="/pubmed/12224702" target="_blank">12224702</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20pilaris%20atrophicans%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 (15)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30043128">Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang JF,
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<div class="portlet_content ln"><span class="medgenPMauthor">Khetarpal S,
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2016 Aug 15;22(8)
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<div class="nl"><a target="_blank" href="/pubmed/20569297">Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alcántara González J,
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<div class="nl"><a target="_blank" href="/pubmed/9720693">Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nico MM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20pilaris%20atrophicans%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/17178988">Keratosis pilaris rubra: a common but underrecognized condition.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Marqueling AL,
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Gilliam AE,
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Prendiville J,
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Zvulunov A,
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Antaya RJ,
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Sugarman J,
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Pang ML,
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Lee P,
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Eichenfield L,
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Metz B,
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Goldberg GN,
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Phillips RJ,
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<span class="bold">PMID: </span><a href="/pubmed/17178988" target="_blank">17178988</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16007634">Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Manci EA,
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Martinez JE,
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Horenstein MG,
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Gardner TM,
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Ahmed A,
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Mancao MC,
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Gardner DM,
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<div class="nl"><a target="_blank" href="/pubmed/12224702">Keratosis pilaris atrophicans in mother and daughter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khumalo NP,
|
||
Loo WJ,
|
||
Hollowood K,
|
||
Salvary I,
|
||
Graham RM,
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Dawber RP</span><br />
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<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
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2002 Jul;16(4):397-400.
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doi: 10.1046/j.1468-3083.2002.00472.x.
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<span class="bold">PMID: </span><a href="/pubmed/12224702" target="_blank">12224702</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20pilaris%20atrophicans%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/20590370">Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Lojo R,
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Pozo JD,
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Barja JM,
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Piñeyro F,
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2010 Aug;12(4):188-90.
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doi: 10.3109/14764172.2010.502456.
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<span class="bold">PMID: </span><a href="/pubmed/20590370" target="_blank">20590370</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/17178988">Keratosis pilaris rubra: a common but underrecognized condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marqueling AL,
|
||
Gilliam AE,
|
||
Prendiville J,
|
||
Zvulunov A,
|
||
Antaya RJ,
|
||
Sugarman J,
|
||
Pang ML,
|
||
Lee P,
|
||
Eichenfield L,
|
||
Metz B,
|
||
Goldberg GN,
|
||
Phillips RJ,
|
||
Frieden IJ</span><br />
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<span class="medgenPMjournal">Arch Dermatol</span>
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||
2006 Dec;142(12):1611-6.
|
||
doi: 10.1001/archderm.142.12.1611.
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||
<span class="bold">PMID: </span><a href="/pubmed/17178988" target="_blank">17178988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16780474">Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Di Lernia V,
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Ricci C</span><br />
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2006 May-Jun;23(3):255-8.
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doi: 10.1111/j.1525-1470.2006.00229.x.
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<span class="bold">PMID: </span><a href="/pubmed/16780474" target="_blank">16780474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11360333">Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark SM,
|
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Mills CM,
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Lanigan SW</span><br />
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<span class="medgenPMjournal">J Cutan Laser Ther</span>
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2000 Sep;2(3):151-6.
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doi: 10.1080/14628830050516416.
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<span class="bold">PMID: </span><a href="/pubmed/11360333" target="_blank">11360333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8166484">Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baden HP,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20pilaris%20atrophicans%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 (6)</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32886029">Treatment of keratosis pilaris and its variants: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maghfour J,
|
||
Ly S,
|
||
Haidari W,
|
||
Taylor SL,
|
||
Feldman SR</span><br />
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||
<span class="medgenPMjournal">J Dermatolog Treat</span>
|
||
2022 May;33(3):1231-1242.
|
||
Epub 2020 Sep 14
|
||
doi: 10.1080/09546634.2020.1818678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32886029" target="_blank">32886029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Keratosis%20pilaris%20atrophicans%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=C0263428%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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