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<meta name="keywords" content="C0259771, cyst, multiple sebaceous, cysts, multiple sebaceous, disseminated sebocystomatosis, finding, hereditary epidermal polycystic disease, krt17, multiple sebaceous cyst, multiple sebaceous cysts, multiplex steatocystoma, multiplex steatocystomas, neoplastic process, sebaceous cyst, multiple, sebaceous cysts, multiple, sebocystomatosis, steatocystoma multiplex, steatocystoma multiplices, steatocystoma, multiplex, steatocystomas, multiplex, 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="Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=75476
|
||
ConceptID=C0259771
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Steatocystoma multiplex</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75476</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:">C0259771</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Disseminated sebocystomatosis; Multiple sebaceous cysts; Sebocystomatosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary epidermal polycystic disease (109433009); Sebocystomatosis (109433009); Steatocystoma multiplex (109433009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KRT17 - ID: 3872 - NCBI Gene" href="/gene/3872" class="medgenPMinfo">KRT17</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012035">HP:0012035</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008485" target="_blank">MONDO:0008485</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/184500" target="_blank">184500</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=841">ORPHA841</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">
|
||
<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">Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.<br /><br />In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_75476"><div><strong>Steatocystoma multiplex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75476</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:">C0259771</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75476">Feature record</a> | <a href="/medgen?term=%22Steatocystoma%20multiplex%22%5BClinical%20Features%5D%20OR%2075476%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10268"><div><strong>Natal tooth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10268</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.">C0027443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tooth present at birth or erupting within the first month of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10268">Feature record</a> | <a href="/medgen?term=%22Natal%20tooth%22%5BClinical%20Features%5D%20OR%2010268%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_10268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Natal tooth</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatocystoma multiplex</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0259771[DISCUI]&test_type=Clinical" ref="ncbi_uid=75476">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75476" target="_blank" href="/omim/148069">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=75476" ref="ncbi_uid=75476">V</a></span></span><span class="TLline">Steatocystoma multiplex</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843175" ref="tree=MeSH" title="MedGen record for Hereditary sebaceous gland anomaly">Hereditary sebaceous gland anomaly</a></span><ul><li><span class="matched_ds">Steatocystoma multiplex</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=8656&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Steatocystoma multiplex</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75476"><div><strong>Steatocystoma multiplex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75476</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:">C0259771</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75476">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_314107"><div><strong>Pachyonychia congenita 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314107</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.">C1721007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314107">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356586"><div><strong>Steatocystoma multiplex-natal teeth syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356586</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.">C1866650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356586">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811524"><div><strong>Pachyonychia congenita 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811524</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.">C3714949</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811524">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_314107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pachyonychia congenita 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pachyonychia congenita 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatocystoma multiplex</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatocystoma multiplex-natal teeth syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/6590088">The treatment of steatocystoma multiplex suppurativum with isotretinoin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Statham BN,
|
||
Cunliffe WJ</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
1984 Aug;111(2):246.
|
||
doi: 10.1111/j.1365-2133.1984.tb04054.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6590088" target="_blank">6590088</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22steatocystoma%20multiplex%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 (1)</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/25903724">Association of copeptin and cortisol in newly diagnosed multiple sclerosis patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baranowska-Bik A,
|
||
Kochanowski J,
|
||
Uchman D,
|
||
Litwiniuk A,
|
||
Kalisz M,
|
||
Martynska L,
|
||
Wolinska-Witort E,
|
||
Baranowska B,
|
||
Bik W</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2015 May 15;282:21-4.
|
||
Epub 2015 Mar 11
|
||
doi: 10.1016/j.jneuroim.2015.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25903724" target="_blank">25903724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24852470">Carbon dioxide laser perforation and extirpation of steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakkour W,
|
||
Madan V</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
2014 Jun;40(6):658-62.
|
||
doi: 10.1111/dsu.0000000000000013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24852470" target="_blank">24852470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21176769">Keratin gene mutations in disorders of human skin and its appendages.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chamcheu JC,
|
||
Siddiqui IA,
|
||
Syed DN,
|
||
Adhami VM,
|
||
Liovic M,
|
||
Mukhtar H</span><br />
|
||
<span class="medgenPMjournal">Arch Biochem Biophys</span>
|
||
2011 Apr 15;508(2):123-37.
|
||
Epub 2010 Dec 19
|
||
doi: 10.1016/j.abb.2010.12.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21176769" target="_blank">21176769</a><a href="/pmc/articles/PMC3142884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9028791">Human keratin diseases: hereditary fragility of specific epithelial tissues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corden LD,
|
||
McLean WH</span><br />
|
||
<span class="medgenPMjournal">Exp Dermatol</span>
|
||
1996 Dec;5(6):297-307.
|
||
doi: 10.1111/j.1600-0625.1996.tb00133.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9028791" target="_blank">9028791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3053803">Pachyonychia congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feinstein A,
|
||
Friedman J,
|
||
Schewach-Millet M</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1988 Oct;19(4):705-11.
|
||
doi: 10.1016/s0190-9622(88)70226-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3053803" target="_blank">3053803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatocystoma%20multiplex%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33527591">Imaging features of steatocystoma multiplex- back to basics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chotai N,
|
||
Lim SK</span><br />
|
||
<span class="medgenPMjournal">Breast J</span>
|
||
2021 Apr;27(4):389-390.
|
||
Epub 2021 Feb 1
|
||
doi: 10.1111/tbj.14179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33527591" target="_blank">33527591</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22679266">Steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varshney M,
|
||
Aziz M,
|
||
Maheshwari V,
|
||
Alam K,
|
||
Jain A,
|
||
Arif SH,
|
||
Gaur K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2011 Sep 26;2011
|
||
doi: 10.1136/bcr.04.2011.4165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22679266" target="_blank">22679266</a><a href="/pmc/articles/PMC3185371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10901733">Acral steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rollins T,
|
||
Levin RM,
|
||
Heymann WR</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2000 Aug;43(2 Pt 2):396-9.
|
||
doi: 10.1067/mjd.2000.100048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10901733" target="_blank">10901733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8548992">Multiple pilosebaceous cysts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Redondo P,
|
||
Vázquez-Doval J,
|
||
Idoate M,
|
||
Iglesias ME,
|
||
Quintanilla E</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
1995 Jul;20(4):328-30.
|
||
doi: 10.1111/j.1365-2230.1995.tb01335.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8548992" target="_blank">8548992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18098681">Steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MACHACEK GF</span><br />
|
||
<span class="medgenPMjournal">Arch Derm Syphilol</span>
|
||
1948 Mar;57(3 Pt. 2):498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18098681" target="_blank">18098681</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatocystoma%20multiplex%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 (80)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30226359">Difficult diagnosis and challenging treatment – a report on leprosy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marahatta S,
|
||
Agrawal S,
|
||
Paudyal P</span><br />
|
||
<span class="medgenPMjournal">Lepr Rev</span>
|
||
2016 Dec;87(4):543-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30226359" target="_blank">30226359</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27183246">Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassira S,
|
||
Korta DZ,
|
||
de Feraudy S,
|
||
Zachary CB</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Laser Ther</span>
|
||
2016 Nov;18(7):364-366.
|
||
Epub 2016 Jul 19
|
||
doi: 10.1080/14764172.2016.1188212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27183246" target="_blank">27183246</a><a href="/pmc/articles/PMC5739516" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24852470">Carbon dioxide laser perforation and extirpation of steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakkour W,
|
||
Madan V</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
2014 Jun;40(6):658-62.
|
||
doi: 10.1111/dsu.0000000000000013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24852470" target="_blank">24852470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21958358">Eruptive vellus hair cysts: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torchia D,
|
||
Vega J,
|
||
Schachner LA</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2012 Feb 1;13(1):19-28.
|
||
doi: 10.2165/11589050-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21958358" target="_blank">21958358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3475194">Treatment of steatocystoma multiplex and pseudofolliculitis barbae with isotretinoin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman SJ</span><br />
|
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<span class="medgenPMjournal">Cutis</span>
|
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1987 Jun;39(6):506-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3475194" target="_blank">3475194</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatocystoma%20multiplex%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 (16)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30306595">Keratin 17 in disease pathogenesis: from cancer to dermatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
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Zhang S,
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Wang G</span><br />
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<span class="medgenPMjournal">J Pathol</span>
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2019 Feb;247(2):158-165.
|
||
Epub 2018 Dec 7
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||
doi: 10.1002/path.5178.
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<span class="bold">PMID: </span><a href="/pubmed/30306595" target="_blank">30306595</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/30226359">Difficult diagnosis and challenging treatment – a report on leprosy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marahatta S,
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Agrawal S,
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Paudyal P</span><br />
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<span class="medgenPMjournal">Lepr Rev</span>
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2016 Dec;87(4):543-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30226359" target="_blank">30226359</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24852470">Carbon dioxide laser perforation and extirpation of steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakkour W,
|
||
Madan V</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
2014 Jun;40(6):658-62.
|
||
doi: 10.1111/dsu.0000000000000013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24852470" target="_blank">24852470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21176769">Keratin gene mutations in disorders of human skin and its appendages.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chamcheu JC,
|
||
Siddiqui IA,
|
||
Syed DN,
|
||
Adhami VM,
|
||
Liovic M,
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||
Mukhtar H</span><br />
|
||
<span class="medgenPMjournal">Arch Biochem Biophys</span>
|
||
2011 Apr 15;508(2):123-37.
|
||
Epub 2010 Dec 19
|
||
doi: 10.1016/j.abb.2010.12.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21176769" target="_blank">21176769</a><a href="/pmc/articles/PMC3142884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12928548">Steatocystoma multiplex in four successive generations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaur T,
|
||
Kanwar AJ</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2003 Jul;30(7):559-61.
|
||
doi: 10.1111/j.1346-8138.2003.tb00433.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12928548" target="_blank">12928548</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatocystoma%20multiplex%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36812282">Dermoscopy of Pilonidal Cyst Disease: A Case-series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uzuncakmak TK,
|
||
Oba MC,
|
||
Sar M,
|
||
Serdaroğlu S</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2022 Nov;30(3):194-196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36812282" target="_blank">36812282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32390282">A simple modified surgical technique combined with tissue adhesive for steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang L,
|
||
Yan J,
|
||
Chen X,
|
||
Chen Y,
|
||
Tang Y</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2021 Jan;20(1):218-221.
|
||
Epub 2020 May 10
|
||
doi: 10.1111/jocd.13438.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32390282" target="_blank">32390282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25903724">Association of copeptin and cortisol in newly diagnosed multiple sclerosis patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baranowska-Bik A,
|
||
Kochanowski J,
|
||
Uchman D,
|
||
Litwiniuk A,
|
||
Kalisz M,
|
||
Martynska L,
|
||
Wolinska-Witort E,
|
||
Baranowska B,
|
||
Bik W</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2015 May 15;282:21-4.
|
||
Epub 2015 Mar 11
|
||
doi: 10.1016/j.jneuroim.2015.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25903724" target="_blank">25903724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9569341">Mammographic demonstration of steatocystoma multiplex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Apesteguía L,
|
||
Mellado MT,
|
||
Inchusta MI,
|
||
Cordero JL</span><br />
|
||
<span class="medgenPMjournal">Eur Radiol</span>
|
||
1998;8(4):647-8.
|
||
doi: 10.1007/s003300050453.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9569341" target="_blank">9569341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3429608">Natal teeth and steatocystoma multiplex: a newly recognized syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">King NM,
|
||
Lee AM</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Genet Dev Biol</span>
|
||
1987;7(3):311-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3429608" target="_blank">3429608</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatocystoma%20multiplex%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 (8)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/21958358">Eruptive vellus hair cysts: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torchia D,
|
||
Vega J,
|
||
Schachner LA</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2012 Feb 1;13(1):19-28.
|
||
doi: 10.2165/11589050-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21958358" target="_blank">21958358</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Steatocystoma%20multiplex%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0259771%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0259771%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0259771%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=184500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=841" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Steatocystoma%20multiplex" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22steatocystoma%20multiplex%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=148069" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3872[geneid]" target="_blank">View KRT17 variations in ClinVar</a></li><li><a href="/nuccore/206725521" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=184500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Steatocystoma+multiplex/6865" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/steatocystoma_multiplex" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Steatocystoma%20multiplex" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/steatocystoma-multiplex" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5003/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Steatocystoma%20multiplex" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Steatocystoma%20multiplex%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=75476" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=75476" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0259771[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0259771[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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