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<meta name="keywords" content="C0277942, butterfly rash, cheekbone rash, finding, malar butterfly rash, malar eruption, malar rash, 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="An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=75808
ConceptID=C0277942
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Malar rash</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75808</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.">C0277942</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>butterfly rash; malar butterfly rash; malar rash</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Butterfly rash (30704002); Malar rash (30704002)</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:0025300">HP:0025300</a></td></tr>
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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">An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. [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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Malar rash</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/8732" ref="tree=MeSH" title="MedGen record for Exanthem">Exanthem</a></span><ul><li><span class="TLline"><a href="/medgen/8732" ref="tree=MeSH" title="MedGen record for Exanthem">Exanthem</a></span><ul><li><span class="TLline"><a href="/medgen/8732" ref="tree=MeSH" title="MedGen record for Exanthem">Exanthem</a></span><ul><li><span class="TLline"><a href="/medgen/8732" ref="tree=MeSH" title="MedGen record for Exanthem">Exanthem</a></span><ul><li><span class="TLline"><a href="/medgen/8732" ref="tree=MeSH" title="MedGen record for Exanthem">Exanthem</a></span><ul><li><span class="TLline"><a href="/medgen/8732" ref="tree=MeSH" title="MedGen record for Exanthem">Exanthem</a></span><ul><li><span class="matched_ds">Malar rash</span></li></ul></li></ul></li></ul></li></ul></li></ul></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_2685"><div><strong>Bloom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2685</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:">C0005859</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include cancer of a wide variety of types and anatomic sites, diabetes mellitus as a result of insulin resistance, chronic obstructive pulmonary disease, and hypothyroidism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2685">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_6146"><div><strong>Systemic lupus erythematosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6146</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.">C0024141</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).&#13; Genetic Heterogeneity of Systemic Lupus Erythematosus&#13; An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22.&#13; See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6146">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332086"><div><strong>Systemic lupus erythematosus, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332086</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.">C1835919</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332086">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349065"><div><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349065</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.">C1858968</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349065">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863159"><div><strong>STING-associated vasculopathy with onset in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863159</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.">C4014722</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863159">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1611968"><div><strong>Al Kaissi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1611968</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.">C4540156</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Al Kaissi syndrome (ALKAS) is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1611968">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648384"><div><strong>Microcephaly, growth restriction, and increased sister chromatid exchange 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648384</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.">C4748176</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; 210900), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).&#13; For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; 210900)</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648384">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1804329"><div><strong>Systemic lupus erythematosus 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804329</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.">C5676884</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Systemic lupus erythematosus-17 (SLEB17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB (164011) signaling, the latter being consistent with a gain-of-function effect (Brown et al., 2022).&#13; For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1804329">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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1611968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Al Kaissi syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome type 2A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bloom syndrome</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_1648384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, growth restriction, and increased sister chromatid exchange 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STING-associated vasculopathy with onset in infancy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus 17</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus, susceptibility to, 6</a></div></span></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/29759123">Systemic Lupus Erythematosus for Primary Care.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kado R</span><br />
<span class="medgenPMjournal">Prim Care</span>
2018 Jun;45(2):257-270.
doi: 10.1016/j.pop.2018.02.011.
<span class="bold">PMID: </span><a href="/pubmed/29759123" target="_blank">29759123</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22263748">Late-onset systemic lupus erythematosus: epidemiology, diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arnaud L,
Mathian A,
Boddaert J,
Amoura Z</span><br />
<span class="medgenPMjournal">Drugs Aging</span>
2012 Mar 1;29(3):181-189.
doi: 10.2165/11598550-000000000-00000.
<span class="bold">PMID: </span><a href="/pubmed/22263748" target="_blank">22263748</a></div>
<div class="nl"><a target="_blank" href="/pubmed/891079">Systemic lupus erythematosus in children: the complex problems of diagnosis and treatment encountered in 101 such patients at the Mayo Clinic.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Norris DG,
Colón AR,
Stickler GB</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
1977 Sep;16(9):774-8.
doi: 10.1177/000992287701600906.
<span class="bold">PMID: </span><a href="/pubmed/891079" target="_blank">891079</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22malar%20rash%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 (18)</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/39221240">Relationship between clinical manifestations and serological profile in patients affected by Systemic Lupus Erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nicola S,
Borrelli R,
Corradi F,
Lo Sardo L,
Badiu I,
Romito A,
Rashidy N,
Quinternetto A,
Mazzola M,
Meli F,
Saracco E,
Vitali I,
Cosseddu D,
Brussino L</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2024;15:1390642.
Epub 2024 Aug 16
doi: 10.3389/fimmu.2024.1390642.
<span class="bold">PMID: </span><a href="/pubmed/39221240" target="_blank">39221240</a><a href="/pmc/articles/PMC11361985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37073886">Exercise as adjunctive therapy for systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frade S,
O'Neill S,
Greene D,
Nutter E,
Cameron M</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2023 Apr 19;4(4):CD014816.
doi: 10.1002/14651858.CD014816.pub2.
<span class="bold">PMID: </span><a href="/pubmed/37073886" target="_blank">37073886</a><a href="/pmc/articles/PMC10115181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33687069">Interventions for cutaneous disease in systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hannon CW,
McCourt C,
Lima HC,
Chen S,
Bennett C</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2021 Mar 9;3(3):CD007478.
doi: 10.1002/14651858.CD007478.pub2.
<span class="bold">PMID: </span><a href="/pubmed/33687069" target="_blank">33687069</a><a href="/pmc/articles/PMC8092459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25648823">The natural history of pediatric-onset discoid lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arkin LM,
Ansell L,
Rademaker A,
Curran ML,
Miller ML,
Wagner A,
Kenner-Bell BM,
Chamlin SL,
Mancini AJ,
Klein-Gitelman M,
Paller AS</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2015 Apr;72(4):628-33.
Epub 2015 Jan 30
doi: 10.1016/j.jaad.2014.12.028.
<span class="bold">PMID: </span><a href="/pubmed/25648823" target="_blank">25648823</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3382309">'Rhupus' syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Panush RS,
Edwards NL,
Longley S,
Webster E</span><br />
<span class="medgenPMjournal">Arch Intern Med</span>
1988 Jul;148(7):1633-6.
<span class="bold">PMID: </span><a href="/pubmed/3382309" target="_blank">3382309</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malar%20rash%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 (235)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34233099">Malar Rash.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goglin SE,
Margaretten ME</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2021 Jul 8;385(2):164.
doi: 10.1056/NEJMicm2029589.
<span class="bold">PMID: </span><a href="/pubmed/34233099" target="_blank">34233099</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33687069">Interventions for cutaneous disease in systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hannon CW,
McCourt C,
Lima HC,
Chen S,
Bennett C</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2021 Mar 9;3(3):CD007478.
doi: 10.1002/14651858.CD007478.pub2.
<span class="bold">PMID: </span><a href="/pubmed/33687069" target="_blank">33687069</a><a href="/pmc/articles/PMC8092459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30589916">Malar Rash and Polyarthritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee S</span><br />
<span class="medgenPMjournal">JAMA</span>
2019 Jan 22;321(3):303-304.
doi: 10.1001/jama.2018.19498.
<span class="bold">PMID: </span><a href="/pubmed/30589916" target="_blank">30589916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29759123">Systemic Lupus Erythematosus for Primary Care.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kado R</span><br />
<span class="medgenPMjournal">Prim Care</span>
2018 Jun;45(2):257-270.
doi: 10.1016/j.pop.2018.02.011.
<span class="bold">PMID: </span><a href="/pubmed/29759123" target="_blank">29759123</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29759118">Approach to Patients with Suspected Rheumatic Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ventura I,
Reid P,
Jan R</span><br />
<span class="medgenPMjournal">Prim Care</span>
2018 Jun;45(2):169-180.
doi: 10.1016/j.pop.2018.02.001.
<span class="bold">PMID: </span><a href="/pubmed/29759118" target="_blank">29759118</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malar%20rash%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 (308)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37073886">Exercise as adjunctive therapy for systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frade S,
O'Neill S,
Greene D,
Nutter E,
Cameron M</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2023 Apr 19;4(4):CD014816.
doi: 10.1002/14651858.CD014816.pub2.
<span class="bold">PMID: </span><a href="/pubmed/37073886" target="_blank">37073886</a><a href="/pmc/articles/PMC10115181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33687069">Interventions for cutaneous disease in systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hannon CW,
McCourt C,
Lima HC,
Chen S,
Bennett C</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2021 Mar 9;3(3):CD007478.
doi: 10.1002/14651858.CD007478.pub2.
<span class="bold">PMID: </span><a href="/pubmed/33687069" target="_blank">33687069</a><a href="/pmc/articles/PMC8092459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31929314">Doxycycline-induced staining of teeth and malar rash in a child.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi G,
Dhingra D,
Pandav SS,
Kaushik S</span><br />
<span class="medgenPMjournal">J Postgrad Med</span>
2020 Jan-Mar;66(1):54.
doi: 10.4103/jpgm.JPGM_454_19.
<span class="bold">PMID: </span><a href="/pubmed/31929314" target="_blank">31929314</a><a href="/pmc/articles/PMC6970320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28705848">Malar rash with pulmonary hypertension and chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ffrench-O'Carroll R,
Biancardi B,
Tujjar O</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2017 Jul 13;2017
doi: 10.1136/bcr-2017-220589.
<span class="bold">PMID: </span><a href="/pubmed/28705848" target="_blank">28705848</a><a href="/pmc/articles/PMC5535122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21437691">Koebner's phenomenon in systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Longhi BS,
Centeville M,
Marini R,
Appenzeller S</span><br />
<span class="medgenPMjournal">Rheumatol Int</span>
2012 May;32(5):1403-5.
Epub 2011 Mar 25
doi: 10.1007/s00296-011-1864-4.
<span class="bold">PMID: </span><a href="/pubmed/21437691" target="_blank">21437691</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malar%20rash%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 (136)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37713101">Systemic Lupus Erythematosus in Children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chandwar K,
Aggarwal A</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2024 Oct;91(10):1032-1040.
Epub 2023 Sep 15
doi: 10.1007/s12098-023-04833-0.
<span class="bold">PMID: </span><a href="/pubmed/37713101" target="_blank">37713101</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31393634">Belimumab treatment in rhupus: A case report with severe skin involvement.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castillo Dayer PV,
Lozano Rivas N,
Martínez Ferrín JJ,
Victoria Martínez AM,
Sánchez-Pedreño Guillen P,
Marras Fernández-Cid C</span><br />
<span class="medgenPMjournal">Dermatol Ther</span>
2019 Sep;32(5):e13056.
Epub 2019 Aug 20
doi: 10.1111/dth.13056.
<span class="bold">PMID: </span><a href="/pubmed/31393634" target="_blank">31393634</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25648823">The natural history of pediatric-onset discoid lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arkin LM,
Ansell L,
Rademaker A,
Curran ML,
Miller ML,
Wagner A,
Kenner-Bell BM,
Chamlin SL,
Mancini AJ,
Klein-Gitelman M,
Paller AS</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2015 Apr;72(4):628-33.
Epub 2015 Jan 30
doi: 10.1016/j.jaad.2014.12.028.
<span class="bold">PMID: </span><a href="/pubmed/25648823" target="_blank">25648823</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12170873">Cutaneous lupus erythematosus: a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patel P,
Werth V</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
2002 Jul;20(3):373-85, v.
doi: 10.1016/s0733-8635(02)00016-5.
<span class="bold">PMID: </span><a href="/pubmed/12170873" target="_blank">12170873</a></div>
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Edwards NL,
Longley S,
Webster E</span><br />
<span class="medgenPMjournal">Arch Intern Med</span>
1988 Jul;148(7):1633-6.
<span class="bold">PMID: </span><a href="/pubmed/3382309" target="_blank">3382309</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malar%20rash%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 (152)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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O'Neill S,
Greene D,
Nutter E,
Cameron M</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2023 Apr 19;4(4):CD014816.
doi: 10.1002/14651858.CD014816.pub2.
<span class="bold">PMID: </span><a href="/pubmed/37073886" target="_blank">37073886</a><a href="/pmc/articles/PMC10115181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34241830">Differential diagnosis of a thyroid mass, facial malar rash and ptosis on the flora in the primavera by Sandro Botticelli (1445-1510).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafian H</span><br />
<span class="medgenPMjournal">J Endocrinol Invest</span>
2022 Mar;45(3):687-689.
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doi: 10.1007/s40618-021-01623-3.
<span class="bold">PMID: </span><a href="/pubmed/34241830" target="_blank">34241830</a><a href="/pmc/articles/PMC8850231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25648823">The natural history of pediatric-onset discoid lupus erythematosus.</a></div>
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Ansell L,
Rademaker A,
Curran ML,
Miller ML,
Wagner A,
Kenner-Bell BM,
Chamlin SL,
Mancini AJ,
Klein-Gitelman M,
Paller AS</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2015 Apr;72(4):628-33.
Epub 2015 Jan 30
doi: 10.1016/j.jaad.2014.12.028.
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<div class="nl"><a target="_blank" href="/pubmed/24819757">Drug-induced lupus erythematosus.</a></div>
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Tavecchio S,
Menicanti C,
Crosti C</span><br />
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
2014 Jun;149(3):301-9.
<span class="bold">PMID: </span><a href="/pubmed/24819757" target="_blank">24819757</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3382309">'Rhupus' syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Panush RS,
Edwards NL,
Longley S,
Webster E</span><br />
<span class="medgenPMjournal">Arch Intern Med</span>
1988 Jul;148(7):1633-6.
<span class="bold">PMID: </span><a href="/pubmed/3382309" target="_blank">3382309</a></div>
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O'Neill S,
Greene D,
Nutter E,
Cameron M</span><br />
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2023 Apr 19;4(4):CD014816.
doi: 10.1002/14651858.CD014816.pub2.
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<div class="nl"><a target="_blank" href="/pubmed/34818238">Differences in the Clinical Manifestations and Mortality of Systemic Lupus Erythematosus Onset in Children and Adults: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang X,
Jia N,
Xiao F,
Sun C,
Zhu J,
Lai J,
Cui X</span><br />
<span class="medgenPMjournal">Int Arch Allergy Immunol</span>
2022;183(1):116-126.
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<div class="nl"><a target="_blank" href="/pubmed/33687069">Interventions for cutaneous disease in systemic lupus erythematosus.</a></div>
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Chen S,
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2021 Mar 9;3(3):CD007478.
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<div class="nl"><a target="_blank" href="/pubmed/26972993">A systematic review and meta-analysis of cutaneous manifestations in late- versus early-onset systemic lupus erythematosus.</a></div>
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Hansen KE,
Fitz SR,
Bartels CM</span><br />
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
2016 Jun;45(6):691-7.
Epub 2016 Jan 21
doi: 10.1016/j.semarthrit.2016.01.004.
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<div class="nl"><a target="_blank" href="/pubmed/25406488">The association of serum anti-ribosomal P antibody with clinical and serological disorders in systemic lupus erythematosus: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shi ZR,
Cao CX,
Tan GZ,
Wang L</span><br />
<span class="medgenPMjournal">Lupus</span>
2015 May;24(6):588-96.
Epub 2014 Nov 17
doi: 10.1177/0961203314560003.
<span class="bold">PMID: </span><a href="/pubmed/25406488" target="_blank">25406488</a></div>
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