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<meta name="keywords" content="C5574816, discoid lupus, discoid lupus erythematosus, discoid lupus rash, disease or syndrome, dle, dle - discoid lupus erythematosus, le - discoid lupus erythematosus, 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="Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Discoid lupus erythematosus (Concept Id: C5574816)
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<!--
UID=1811126
ConceptID=C5574816
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Discoid lupus erythematosus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1811126</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)&#10;Click for more information."><span class="highlight" style="background-color:">C5574816</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Discoid lupus rash</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Discoid lupus erythematosus (200938002); DLE - Discoid lupus erythematosus (200938002); LE - Discoid lupus erythematosus (200938002)</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:0007417">HP:0007417</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0019558" target="_blank">MONDO:0019558</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&amp;Expert=90281">ORPHA90281</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">Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Discoid lupus erythematosus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/832656" ref="tree=MeSH" title="MedGen record for Chronic cutaneous lupus erythematosus">Chronic cutaneous lupus erythematosus</a></span><ul><li><span class="matched_ds">Discoid lupus erythematosus</span></li></ul></li></ul></div></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_336165"><div><strong>Granulomatous disease, chronic, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336165</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)&#10;Click for more information.">C1844376</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336165">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383869"><div><strong>Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383869</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)&#10;Click for more information.">C1856245</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383869">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341102"><div><strong>Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341102</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)&#10;Click for more information.">C1856251</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341102">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383872"><div><strong>Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383872</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)&#10;Click for more information.">C1856255</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383872">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461624"><div><strong>Complement component C1r/C1s deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461624</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)&#10;Click for more information.">C3150274</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461624">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840213"><div><strong>Autoinflammatory disease, multisystem, with immune dysregulation, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840213</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)&#10;Click for more information.">C5829577</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals may present with variable cytopenias, including anemia, thrombocytopenia, neutropenia, lymphopenia, or hypogammaglobulinemia, and systemic or organ-specific autoinflammatory manifestations. These include skin lesions, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Some patients have circulating autoantibodies that underlie the cytopenias or systemic features, whereas others do not have circulating autoantibodies. In addition, some patients have recurrent infections, whereas others do not show signs of an immunodeficiency. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy. Severe complications of the disease may result in death in childhood (Boussard et al., 2023; Block et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840213">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841058"><div><strong>C1Q deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841058</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)&#10;Click for more information.">C5830422</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007).&#13; For a discussion of genetic heterogeneity of C1q deficiency, see 613652.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841058">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841059"><div><strong>C1Q deficiency 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841059</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)&#10;Click for more information.">C5830423</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007).&#13; For a discussion of genetic heterogeneity of C1q deficiency, see 613652.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841059">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory disease, multisystem, with immune dysregulation, X-linked</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C1Q deficiency 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C1Q deficiency 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component C1r/C1s deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383872" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomatous disease, chronic, X-linked</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/36427219">Treatment With Anifrolumab for Discoid Lupus Erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trentin F,
Tani C,
Elefante E,
Stagnaro C,
Zucchi D,
Mosca M</span><br />
<span class="medgenPMjournal">JAMA Dermatol</span>
2023 Feb 1;159(2):224-226.
doi: 10.1001/jamadermatol.2022.5242.
<span class="bold">PMID: </span><a href="/pubmed/36427219" target="_blank">36427219</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35302254">Facial discoid lupus erythematosus during dupilumab treatment for atopic dermatitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maeno M,
Tamagawa-Mineoka R,
Arakawa Y,
Masuda K,
Katoh N</span><br />
<span class="medgenPMjournal">J Dermatol</span>
2022 Jul;49(7):e234-e235.
Epub 2022 Mar 18
doi: 10.1111/1346-8138.16356.
<span class="bold">PMID: </span><a href="/pubmed/35302254" target="_blank">35302254</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24238695">Cutaneous lupus erythematosus: diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Okon LG,
Werth VP</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
2013 Jun;27(3):391-404.
doi: 10.1016/j.berh.2013.07.008.
<span class="bold">PMID: </span><a href="/pubmed/24238695" target="_blank">24238695</a><a href="/pmc/articles/PMC3927537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22discoid%20lupus%20erythematosus%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 (81)</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/36574529">Comorbidities in Patients with Vitiligo: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JH,
Ju HJ,
Seo JM,
Almurayshid A,
Kim GM,
Ezzedine K,
Bae JM</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2023 May;143(5):777-789.e6.
Epub 2022 Nov 28
doi: 10.1016/j.jid.2022.10.021.
<span class="bold">PMID: </span><a href="/pubmed/36574529" target="_blank">36574529</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32746644">New insights into the progression from cutaneous lupus to systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
Wu H,
Zhao M,
Lu Q</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2020 Aug;16(8):829-837.
Epub 2020 Sep 29
doi: 10.1080/1744666X.2020.1805316.
<span class="bold">PMID: </span><a href="/pubmed/32746644" target="_blank">32746644</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29673799">Clinical features and presentation of oral potentially malignant disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S</span><br />
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol</span>
2018 Jun;125(6):582-590.
Epub 2018 Apr 4
doi: 10.1016/j.oooo.2018.03.011.
<span class="bold">PMID: </span><a href="/pubmed/29673799" target="_blank">29673799</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24623331">Cutaneous lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eastham AB,
Vleugels RA</span><br />
<span class="medgenPMjournal">JAMA Dermatol</span>
2014 Mar;150(3):344.
doi: 10.1001/jamadermatol.2013.10393.
<span class="bold">PMID: </span><a href="/pubmed/24623331" target="_blank">24623331</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17944749">Nomenclature and classification of potentially malignant disorders of the oral mucosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S,
Johnson NW,
van der Waal I</span><br />
<span class="medgenPMjournal">J Oral Pathol Med</span>
2007 Nov;36(10):575-80.
doi: 10.1111/j.1600-0714.2007.00582.x.
<span class="bold">PMID: </span><a href="/pubmed/17944749" target="_blank">17944749</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Discoid%20lupus%20erythematosus%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 (471)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39321365">Discoid Lupus Erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Russo G,
Alipour Tehrany Y</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2024 Sep 26;391(12):e24.
doi: 10.1056/NEJMicm2402680.
<span class="bold">PMID: </span><a href="/pubmed/39321365" target="_blank">39321365</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37236719">Scarring Alopecia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Larrondo J,
McMichael AJ</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
2023 Jul;41(3):519-537.
Epub 2023 Apr 14
doi: 10.1016/j.det.2023.02.007.
<span class="bold">PMID: </span><a href="/pubmed/37236719" target="_blank">37236719</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35507819">Discoid lupus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heath CR,
Usatine RP</span><br />
<span class="medgenPMjournal">J Fam Pract</span>
2022 Mar;71(2):E16-E17.
doi: 10.12788/jfp.0369.
<span class="bold">PMID: </span><a href="/pubmed/35507819" target="_blank">35507819</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25128118">Evaluation and diagnosis of the hair loss patient: part I. History and clinical examination.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mubki T,
Rudnicka L,
Olszewska M,
Shapiro J</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2014 Sep;71(3):415.e1-415.e15.
doi: 10.1016/j.jaad.2014.04.070.
<span class="bold">PMID: </span><a href="/pubmed/25128118" target="_blank">25128118</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24238695">Cutaneous lupus erythematosus: diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Okon LG,
Werth VP</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
2013 Jun;27(3):391-404.
doi: 10.1016/j.berh.2013.07.008.
<span class="bold">PMID: </span><a href="/pubmed/24238695" target="_blank">24238695</a><a href="/pmc/articles/PMC3927537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Discoid%20lupus%20erythematosus%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 (987)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39321365">Discoid Lupus Erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Russo G,
Alipour Tehrany Y</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2024 Sep 26;391(12):e24.
doi: 10.1056/NEJMicm2402680.
<span class="bold">PMID: </span><a href="/pubmed/39321365" target="_blank">39321365</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32876993">Apremilast in dermatology: A review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nassim D,
Alajmi A,
Jfri A,
Pehr K</span><br />
<span class="medgenPMjournal">Dermatol Ther</span>
2020 Nov;33(6):e14261.
Epub 2020 Sep 27
doi: 10.1111/dth.14261.
<span class="bold">PMID: </span><a href="/pubmed/32876993" target="_blank">32876993</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24623331">Cutaneous lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eastham AB,
Vleugels RA</span><br />
<span class="medgenPMjournal">JAMA Dermatol</span>
2014 Mar;150(3):344.
doi: 10.1001/jamadermatol.2013.10393.
<span class="bold">PMID: </span><a href="/pubmed/24623331" target="_blank">24623331</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24238695">Cutaneous lupus erythematosus: diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Okon LG,
Werth VP</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
2013 Jun;27(3):391-404.
doi: 10.1016/j.berh.2013.07.008.
<span class="bold">PMID: </span><a href="/pubmed/24238695" target="_blank">24238695</a><a href="/pmc/articles/PMC3927537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6754229">Discoid lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tuffanelli DL</span><br />
<span class="medgenPMjournal">Clin Rheum Dis</span>
1982 Aug;8(2):327-41.
<span class="bold">PMID: </span><a href="/pubmed/6754229" target="_blank">6754229</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Discoid%20lupus%20erythematosus%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 (641)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33290611">Common causes of hair loss - clinical manifestations, trichoscopy and therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alessandrini A,
Bruni F,
Piraccini BM,
Starace M</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2021 Mar;35(3):629-640.
Epub 2021 Jan 8
doi: 10.1111/jdv.17079.
<span class="bold">PMID: </span><a href="/pubmed/33290611" target="_blank">33290611</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32746644">New insights into the progression from cutaneous lupus to systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
Wu H,
Zhao M,
Lu Q</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2020 Aug;16(8):829-837.
Epub 2020 Sep 29
doi: 10.1080/1744666X.2020.1805316.
<span class="bold">PMID: </span><a href="/pubmed/32746644" target="_blank">32746644</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29673799">Clinical features and presentation of oral potentially malignant disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warnakulasuriya S</span><br />
<span class="medgenPMjournal">Oral Surg Oral Med Oral Pathol Oral Radiol</span>
2018 Jun;125(6):582-590.
Epub 2018 Apr 4
doi: 10.1016/j.oooo.2018.03.011.
<span class="bold">PMID: </span><a href="/pubmed/29673799" target="_blank">29673799</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25128118">Evaluation and diagnosis of the hair loss patient: part I. History and clinical examination.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mubki T,
Rudnicka L,
Olszewska M,
Shapiro J</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2014 Sep;71(3):415.e1-415.e15.
doi: 10.1016/j.jaad.2014.04.070.
<span class="bold">PMID: </span><a href="/pubmed/25128118" target="_blank">25128118</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24623331">Cutaneous lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eastham AB,
Vleugels RA</span><br />
<span class="medgenPMjournal">JAMA Dermatol</span>
2014 Mar;150(3):344.
doi: 10.1001/jamadermatol.2013.10393.
<span class="bold">PMID: </span><a href="/pubmed/24623331" target="_blank">24623331</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Discoid%20lupus%20erythematosus%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 (291)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36574529">Comorbidities in Patients with Vitiligo: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JH,
Ju HJ,
Seo JM,
Almurayshid A,
Kim GM,
Ezzedine K,
Bae JM</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2023 May;143(5):777-789.e6.
Epub 2022 Nov 28
doi: 10.1016/j.jid.2022.10.021.
<span class="bold">PMID: </span><a href="/pubmed/36574529" target="_blank">36574529</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36470882">Single-cell sequencing shows cellular heterogeneity of cutaneous lesions in lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng M,
Hu Z,
Mei X,
Ouyang L,
Song Y,
Zhou W,
Kong Y,
Wu R,
Rao S,
Long H,
Shi W,
Jing H,
Lu S,
Wu H,
Jia S,
Lu Q,
Zhao M</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2022 Dec 5;13(1):7489.
doi: 10.1038/s41467-022-35209-1.
<span class="bold">PMID: </span><a href="/pubmed/36470882" target="_blank">36470882</a><a href="/pmc/articles/PMC9722937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35950883">Extragenital lichen sclerosus: A comprehensive review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arif T,
Fatima R,
Sami M</span><br />
<span class="medgenPMjournal">Australas J Dermatol</span>
2022 Nov;63(4):452-462.
Epub 2022 Aug 11
doi: 10.1111/ajd.13890.
<span class="bold">PMID: </span><a href="/pubmed/35950883" target="_blank">35950883</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32746644">New insights into the progression from cutaneous lupus to systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
Wu H,
Zhao M,
Lu Q</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2020 Aug;16(8):829-837.
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doi: 10.1080/1744666X.2020.1805316.
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<div class="nl"><a target="_blank" href="/pubmed/34806223">Update on trichoscopy: Integration of the terminology by systematic approach and a proposal of a diagnostic flowchart.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34676640">Pediatric discoid lupus erythematosus: Short report.</a></div>
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2022 Jan;35(1):e15170.
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