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<meta name="keywords" content="C0546476, epithelioma, self-healing squamous, 1, ess1, ess1 (formerly), ess1, formerly, familial primary self-healing squamous epithelioma of the skin, ferguson-smith type, ferguson-smith disease, ferguson-smith syndrome, ferguson-smith tumor, ferguson-smith tumour, ferguson-smith type epithelioma, ferguson-smith-type epithelioma, keratoacanthoma familial, msse, multiple keratoacanthoma, ferguson-smith type, multiple self healing epithelioma of ferguson-smith, multiple self healing squamous epithelioma, multiple self-healing epithelioma of ferguson-smith, multiple self-healing squamous epithelioma, multiple self-healing squamous epithelioma, susceptibility to, neoplastic process, self-healing squamous epithelioma type 1, tgfbr1, 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="Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Multiple self-healing squamous epithelioma (Concept Id: C0546476)
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<!--
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UID=154270
|
||
ConceptID=C0546476
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple self-healing squamous epithelioma<span class="h1sub">(MSSE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154270</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:">C0546476</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ESS1 (formerly); Ferguson-Smith type epithelioma; MSSE; MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO</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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help 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="TGFBR1 - ID: 7046 - NCBI Gene" href="/gene/7046" class="medgenPMinfo">TGFBR1</a> (9q22.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007566" target="_blank">MONDO:0007566</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/132800" target="_blank">132800</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=65748">ORPHA65748</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_1841655"><div><strong>Self-healing squamous epithelioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841655</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.">C5826612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841655">Feature record</a> | <a href="/medgen?term=%22Self-healing%20squamous%20epithelioma%22%5BClinical%20Features%5D%20OR%201841655%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3130"><div><strong>Clubfoot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3130</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.">C0009081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3130">Feature record</a> | <a href="/medgen?term=%22Clubfoot%22%5BClinical%20Features%5D%20OR%203130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163631"><div><strong>Ascending tubular aorta aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163631</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.">C0856747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163631">Feature record</a> | <a href="/medgen?term=%22Ascending%20tubular%20aorta%20aneurysm%22%5BClinical%20Features%5D%20OR%20163631%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480821"><div><strong>Arterial tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480821</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.">C3279191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal tortuous (i.e., twisted) form of arteries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480821">Feature record</a> | <a href="/medgen?term=%22Arterial%20tortuosity%22%5BClinical%20Features%5D%20OR%20480821%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</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.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubfoot</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial tortuosity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascending tubular aorta aneurysm</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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_1841655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-healing squamous epithelioma</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=C0546476[DISCUI]&test_type=Clinical" ref="ncbi_uid=154270">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=154270" target="_blank" href="/omim/132800">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=154270" ref="ncbi_uid=154270">V</a></span></span><span class="TLline">Multiple self-healing squamous epithelioma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842339" ref="tree=MeSH" title="MedGen record for Inherited skin tumor">Inherited skin tumor</a></span><ul><li><span class="matched_ds">Multiple self-healing squamous epithelioma</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=10877&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Multiple self-healing squamous epithelioma</span> in Orphanet.</div></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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389333">Genetics of Skin Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389333" target="_blank">26389333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/39933850">Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz syndrome: a single TGFBR1 variant, two phenotypes in one patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moeris E,
|
||
Battisti G,
|
||
Lenne A,
|
||
Cambier N</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2025 Feb 11;18(2)
|
||
doi: 10.1136/bcr-2024-261563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39933850" target="_blank">39933850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17554363">Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Alessandro M,
|
||
Coats SE,
|
||
Morley SM,
|
||
Mackintosh L,
|
||
Tessari G,
|
||
Turco A,
|
||
Gerdes AM,
|
||
Pichert G,
|
||
Whittaker S,
|
||
Brandrup F,
|
||
Broesby-Olsen S,
|
||
Gomez-Lira M,
|
||
Girolomoni G,
|
||
Maize JC,
|
||
Feldman RJ,
|
||
Kato N,
|
||
Koga Y,
|
||
Ferguson-Smith MA,
|
||
Goudie DR,
|
||
Lane EB</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2007 Oct;127(10):2336-44.
|
||
Epub 2007 Jun 7
|
||
doi: 10.1038/sj.jid.5700914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17554363" target="_blank">17554363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9439661">Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards FM,
|
||
Goudie DR,
|
||
Cooper WN,
|
||
Jene Q,
|
||
Barroso I,
|
||
Wicking C,
|
||
Wainwright BJ,
|
||
Ferguson-Smith MA</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1997 Dec;101(3):317-22.
|
||
doi: 10.1007/s004390050635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9439661" target="_blank">9439661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1427899">A genetic linkage map of human chromosome 9q.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozelius LJ,
|
||
Kwiatkowski DJ,
|
||
Schuback DE,
|
||
Breakefield XO,
|
||
Wexler NS,
|
||
Gusella JF,
|
||
Haines JL</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1992 Nov;14(3):715-20.
|
||
doi: 10.1016/s0888-7543(05)80173-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1427899" target="_blank">1427899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20self-healing%20squamous%20epithelioma%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38541097">Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karampinis E,
|
||
Kostopoulou C,
|
||
Toli O,
|
||
Marinos L,
|
||
Papadimitriou G,
|
||
Roussaki Schulze AV,
|
||
Zafiriou E</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2024 Feb 22;60(3)
|
||
doi: 10.3390/medicina60030371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38541097" target="_blank">38541097</a><a href="/pmc/articles/PMC10972420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36599937">Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortugno P,
|
||
Monetta R,
|
||
Cinquina V,
|
||
Rigon C,
|
||
Boaretto F,
|
||
De Luca C,
|
||
Zoppi N,
|
||
Di Leandro L,
|
||
De Domenico E,
|
||
Di Daniele A,
|
||
Ippoliti R,
|
||
Angelucci F,
|
||
Di Cesare E,
|
||
De Paulis R,
|
||
Salviati L,
|
||
Colombi M,
|
||
Brancati F,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 May;31(5):596-601.
|
||
Epub 2023 Jan 4
|
||
doi: 10.1038/s41431-022-01279-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36599937" target="_blank">36599937</a><a href="/pmc/articles/PMC10172188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30513140">Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sirisomboonwong KE,
|
||
Martindale J,
|
||
Keefe M,
|
||
Goudie D,
|
||
Poke G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Dec;176(12):2892-2895.
|
||
Epub 2018 Dec 4
|
||
doi: 10.1002/ajmg.a.40652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30513140" target="_blank">30513140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26853179">Keratoacanthoma (KA): An update and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwiek B,
|
||
Schwartz RA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2016 Jun;74(6):1220-33.
|
||
Epub 2016 Feb 4
|
||
doi: 10.1016/j.jaad.2015.11.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26853179" target="_blank">26853179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19874360">Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson SJ,
|
||
Bashir SJ,
|
||
Pichert G,
|
||
Robson A,
|
||
Whittaker S</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2010 Jun;35(4):e100-2.
|
||
Epub 2009 Oct 23
|
||
doi: 10.1111/j.1365-2230.2009.03668.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19874360" target="_blank">19874360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20self-healing%20squamous%20epithelioma%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38541097">Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karampinis E,
|
||
Kostopoulou C,
|
||
Toli O,
|
||
Marinos L,
|
||
Papadimitriou G,
|
||
Roussaki Schulze AV,
|
||
Zafiriou E</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2024 Feb 22;60(3)
|
||
doi: 10.3390/medicina60030371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38541097" target="_blank">38541097</a><a href="/pmc/articles/PMC10972420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26853179">Keratoacanthoma (KA): An update and review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwiek B,
|
||
Schwartz RA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2016 Jun;74(6):1220-33.
|
||
Epub 2016 Feb 4
|
||
doi: 10.1016/j.jaad.2015.11.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26853179" target="_blank">26853179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19874360">Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson SJ,
|
||
Bashir SJ,
|
||
Pichert G,
|
||
Robson A,
|
||
Whittaker S</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2010 Jun;35(4):e100-2.
|
||
Epub 2009 Oct 23
|
||
doi: 10.1111/j.1365-2230.2009.03668.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19874360" target="_blank">19874360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20self-healing%20squamous%20epithelioma%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36599937">Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortugno P,
|
||
Monetta R,
|
||
Cinquina V,
|
||
Rigon C,
|
||
Boaretto F,
|
||
De Luca C,
|
||
Zoppi N,
|
||
Di Leandro L,
|
||
De Domenico E,
|
||
Di Daniele A,
|
||
Ippoliti R,
|
||
Angelucci F,
|
||
Di Cesare E,
|
||
De Paulis R,
|
||
Salviati L,
|
||
Colombi M,
|
||
Brancati F,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 May;31(5):596-601.
|
||
Epub 2023 Jan 4
|
||
doi: 10.1038/s41431-022-01279-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36599937" target="_blank">36599937</a><a href="/pmc/articles/PMC10172188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29706644">Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujiwara T,
|
||
Takeda N,
|
||
Hara H,
|
||
Morita H,
|
||
Kishihara J,
|
||
Inuzuka R,
|
||
Yagi H,
|
||
Maemura S,
|
||
Toko H,
|
||
Harada M,
|
||
Ikeda Y,
|
||
Kumagai H,
|
||
Nomura S,
|
||
Takimoto E,
|
||
Akazawa H,
|
||
Ako J,
|
||
Komuro I</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Aug;26(8):1151-1158.
|
||
Epub 2018 Apr 30
|
||
doi: 10.1038/s41431-018-0127-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29706644" target="_blank">29706644</a><a href="/pmc/articles/PMC6057981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17554363">Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Alessandro M,
|
||
Coats SE,
|
||
Morley SM,
|
||
Mackintosh L,
|
||
Tessari G,
|
||
Turco A,
|
||
Gerdes AM,
|
||
Pichert G,
|
||
Whittaker S,
|
||
Brandrup F,
|
||
Broesby-Olsen S,
|
||
Gomez-Lira M,
|
||
Girolomoni G,
|
||
Maize JC,
|
||
Feldman RJ,
|
||
Kato N,
|
||
Koga Y,
|
||
Ferguson-Smith MA,
|
||
Goudie DR,
|
||
Lane EB</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2007 Oct;127(10):2336-44.
|
||
Epub 2007 Jun 7
|
||
doi: 10.1038/sj.jid.5700914.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17554363" target="_blank">17554363</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20self-healing%20squamous%20epithelioma%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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38541097">Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karampinis E,
|
||
Kostopoulou C,
|
||
Toli O,
|
||
Marinos L,
|
||
Papadimitriou G,
|
||
Roussaki Schulze AV,
|
||
Zafiriou E</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2024 Feb 22;60(3)
|
||
doi: 10.3390/medicina60030371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38541097" target="_blank">38541097</a><a href="/pmc/articles/PMC10972420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36599937">Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortugno P,
|
||
Monetta R,
|
||
Cinquina V,
|
||
Rigon C,
|
||
Boaretto F,
|
||
De Luca C,
|
||
Zoppi N,
|
||
Di Leandro L,
|
||
De Domenico E,
|
||
Di Daniele A,
|
||
Ippoliti R,
|
||
Angelucci F,
|
||
Di Cesare E,
|
||
De Paulis R,
|
||
Salviati L,
|
||
Colombi M,
|
||
Brancati F,
|
||
Ritelli M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 May;31(5):596-601.
|
||
Epub 2023 Jan 4
|
||
doi: 10.1038/s41431-022-01279-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36599937" target="_blank">36599937</a><a href="/pmc/articles/PMC10172188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29706644">Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujiwara T,
|
||
Takeda N,
|
||
Hara H,
|
||
Morita H,
|
||
Kishihara J,
|
||
Inuzuka R,
|
||
Yagi H,
|
||
Maemura S,
|
||
Toko H,
|
||
Harada M,
|
||
Ikeda Y,
|
||
Kumagai H,
|
||
Nomura S,
|
||
Takimoto E,
|
||
Akazawa H,
|
||
Ako J,
|
||
Komuro I</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2018 Aug;26(8):1151-1158.
|
||
Epub 2018 Apr 30
|
||
doi: 10.1038/s41431-018-0127-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29706644" target="_blank">29706644</a><a href="/pmc/articles/PMC6057981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18176752">Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Broesby-Olsen S,
|
||
Bygum A,
|
||
Gerdes AM,
|
||
Brandrup F</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2008;88(1):52-6.
|
||
doi: 10.2340/00015555-0359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18176752" target="_blank">18176752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9705163">Desmoglein in multiple self-healing squamous epithelioma of Ferguson-Smith--comparison of staining patterns with actinic keratoacanthoma and squamous cell carcinoma of the skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krunic AL,
|
||
Garrod DR,
|
||
Hunter JA,
|
||
Clark RE</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol Res</span>
|
||
1998 Jun;290(6):319-24.
|
||
doi: 10.1007/s004030050311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9705163" target="_blank">9705163</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20self-healing%20squamous%20epithelioma%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></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 -->
|
||
<div class="rightCol mgCol">
|
||
<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>
|
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0546476%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C0546476%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0546476%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
|
||
<li><a href="/gtr/tests?term=C0546476%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0546476%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
|
||
</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>
|
||
<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=132800" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=65748" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Multiple%20self-healing%20squamous%20epithelioma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
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|
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|
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<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="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Multiple%20self-healing%20squamous%20epithelioma%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=190181" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7046[geneid]" target="_blank">View TGFBR1 variations in ClinVar</a></li><li><a href="/nuccore/170014713" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=132800" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Multiple+self+healing+squamous+epithelioma/4971" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/multiple_self_healing_squamous_epithelioma_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Multiple%20self-healing%20squamous%20epithelioma" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3090/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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