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<meta name="keywords" content="C3875321, abnormal tendency to infections of the skin, dermatitis, disease or syndrome, inflammation of skin, inflammation of the skin, inflammation of zone of skin, inflammatory abnormality of the skin, inflammatory dermatosis, inflammatory skin disease, skin inflammation, zone of skin inflammation, 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="The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Inflammatory abnormality of the skin (Concept Id: C3875321)
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<!--
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UID=849741
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ConceptID=C3875321
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inflammatory abnormality of the skin</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849741</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:">C3875321</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>Dermatitis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Inflammatory dermatosis (703938007)</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:0011123">HP:0011123</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002406" target="_blank">MONDO:0002406</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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">Inflammatory abnormality of the skin</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868411" ref="tree=MeSH" title="MedGen record for Abnormal inflammatory response">Abnormal inflammatory response</a></span><ul><li><span class="TLline"><a href="/medgen/868409" ref="tree=MeSH" title="MedGen record for Increased inflammatory response">Increased inflammatory response</a></span><ul><li><span class="matched_ds">Inflammatory abnormality of the skin</span><ul><li><span class="TLline"><a href="/medgen/152379" ref="tree=MeSH" title="MedGen record for Acne">Acne</a></span><ul><li><span class="TLline"><a href="/medgen/57993" ref="tree=MeSH" title="MedGen record for Acne inversa">Acne inversa</a></span></li><li><span class="TLline"><a href="/medgen/590448" ref="tree=MeSH" title="MedGen record for Comedonal acne">Comedonal acne</a></span></li><li><span class="TLline"><a href="/medgen/507614" ref="tree=MeSH" title="MedGen record for Cystic acne">Cystic acne</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/886" ref="tree=MeSH" title="MedGen record for Chilblains">Chilblains</a></span></li><li><span class="TLline"><a href="/medgen/358224" ref="tree=MeSH" title="MedGen record for Crusting erythematous dermatitis">Crusting erythematous dermatitis</a></span></li><li><span class="TLline"><a href="/medgen/1611554" ref="tree=MeSH" title="MedGen record for Deep dermal perivascular inflammatory infiltrate">Deep dermal perivascular inflammatory infiltrate</a></span></li><li><span class="TLline"><a href="/medgen/3968" ref="tree=MeSH" title="MedGen record for Eczematoid dermatitis">Eczematoid dermatitis</a></span><ul><li><span class="TLline"><a href="/medgen/41502" ref="tree=MeSH" title="MedGen record for Atopic eczema">Atopic eczema</a></span><ul><li><span class="TLline"><a href="/medgen/350353" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic">Dermatitis, atopic</a></span></li><li><span class="TLline"><a href="/medgen/340100" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 2">Dermatitis, atopic, 2</a></span></li><li><span class="TLline"><a href="/medgen/344173" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 3">Dermatitis, atopic, 3</a></span></li><li><span class="TLline"><a href="/medgen/340099" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 4">Dermatitis, atopic, 4</a></span></li><li><span class="TLline"><a href="/medgen/381292" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 5">Dermatitis, atopic, 5</a></span></li><li><span class="TLline"><a href="/medgen/344154" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 6">Dermatitis, atopic, 6</a></span></li><li><span class="TLline"><a href="/medgen/414058" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 7">Dermatitis, atopic, 7</a></span></li><li><span class="TLline"><a href="/medgen/462113" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 8">Dermatitis, atopic, 8</a></span></li><li><span class="TLline"><a href="/medgen/462114" ref="tree=MeSH" title="MedGen record for Dermatitis, atopic, 9">Dermatitis, atopic, 9</a></span></li><li><span class="TLline"><a href="/medgen/870398" ref="tree=MeSH" title="MedGen record for Late onset atopic dermatitis">Late onset atopic dermatitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8329" ref="tree=MeSH" title="MedGen record for Contact dermatitis">Contact dermatitis</a></span><ul><li><span class="TLline"><a href="/medgen/102474" ref="tree=MeSH" title="MedGen record for Allergic contact dermatitis">Allergic contact dermatitis</a></span></li><li><span class="TLline"><a href="/medgen/56513" ref="tree=MeSH" title="MedGen record for Irritant dermatitis">Irritant dermatitis</a></span></li><li><span class="TLline"><a href="/medgen/14449" ref="tree=MeSH" title="MedGen record for Occupational dermatitis">Occupational dermatitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10851" ref="tree=MeSH" title="MedGen record for Dyshidrosis">Dyshidrosis</a></span></li><li><span class="TLline"><a href="/medgen/508353" ref="tree=MeSH" title="MedGen record for Nummular eczema">Nummular eczema</a></span></li><li><span class="TLline"><a href="/medgen/473409" ref="tree=MeSH" title="MedGen record for Perioral eczema">Perioral eczema</a></span></li><li><span class="TLline"><a href="/medgen/19912" ref="tree=MeSH" title="MedGen record for Seborrheic dermatitis">Seborrheic dermatitis</a></span><ul><li><span class="TLline"><a href="/medgen/870399" ref="tree=MeSH" title="MedGen record for Generalized seborrheic dermatitis">Generalized seborrheic dermatitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/507630" ref="tree=MeSH" title="MedGen record for Stasis dermatitis">Stasis dermatitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1661602" ref="tree=MeSH" title="MedGen record for Eosinophilic dermal infiltration">Eosinophilic dermal infiltration</a></span></li><li><span class="TLline"><a href="/medgen/41855" ref="tree=MeSH" title="MedGen record for Erysipelas">Erysipelas</a></span></li><li><span class="TLline"><a href="/medgen/41858" ref="tree=MeSH" title="MedGen record for Erythema nodosum">Erythema nodosum</a></span></li><li><span class="TLline"><a href="/medgen/3767" ref="tree=MeSH" title="MedGen record for Erythroderma">Erythroderma</a></span><ul><li><span class="TLline"><a href="/medgen/870446" ref="tree=MeSH" title="MedGen record for Congenital exfoliative erythroderma">Congenital exfoliative erythroderma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4752" ref="tree=MeSH" title="MedGen record for Folliculitis">Folliculitis</a></span><ul><li><span class="TLline"><a href="/medgen/1720" ref="tree=MeSH" title="MedGen record for Acne keloid">Acne keloid</a></span></li><li><span class="TLline"><a href="/medgen/2866" ref="tree=MeSH" title="MedGen record for Carbuncle">Carbuncle</a></span></li><li><span class="TLline"><a href="/medgen/66060" ref="tree=MeSH" title="MedGen record for Furuncle">Furuncle</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1620481" ref="tree=MeSH" title="MedGen record for Neutrophilic infiltration of the skin">Neutrophilic infiltration of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/1613083" ref="tree=MeSH" title="MedGen record for Predominantly dermal neutrophilic infiltrate">Predominantly dermal neutrophilic infiltrate</a></span></li><li><span class="TLline"><a href="/medgen/1615865" ref="tree=MeSH" title="MedGen record for Predominantly epidermal neutrophilic infiltrate">Predominantly epidermal neutrophilic infiltrate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/537539" ref="tree=MeSH" title="MedGen record for Perifolliculitis">Perifolliculitis</a></span></li><li><span class="TLline"><a href="/medgen/1779201" ref="tree=MeSH" title="MedGen record for Pseudo-chilblain">Pseudo-chilblain</a></span><ul><li><span class="TLline"><a href="/medgen/1814131" ref="tree=MeSH" title="MedGen record for Pseudo-chilblains on fingers">Pseudo-chilblains on fingers</a></span></li><li><span class="TLline"><a href="/medgen/1749924" ref="tree=MeSH" title="MedGen record for Pseudo-chilblains on toes">Pseudo-chilblains on toes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75508" ref="tree=MeSH" title="MedGen record for Psoriasiform dermatitis">Psoriasiform dermatitis</a></span></li><li><span class="TLline"><a href="/medgen/1056319" ref="tree=MeSH" title="MedGen record for Purulent drainage from skin">Purulent drainage from skin</a></span></li><li><span class="TLline"><a href="/medgen/488804" ref="tree=MeSH" title="MedGen record for Pustule">Pustule</a></span><ul><li><span class="TLline"><a href="/medgen/45290" ref="tree=MeSH" title="MedGen record for Palmoplantar pustulosis">Palmoplantar pustulosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/377848" ref="tree=MeSH" title="MedGen record for Recurrent skin infections">Recurrent skin infections</a></span></li><li><span class="TLline"><a href="/medgen/1830322" ref="tree=MeSH" title="MedGen record for Skin rash">Skin rash</a></span><ul><li><span class="TLline"><a href="/medgen/1637671" ref="tree=MeSH" title="MedGen record for Bull eye rash">Bull eye rash</a></span></li><li><span class="TLline"><a href="/medgen/1811126" ref="tree=MeSH" title="MedGen record for Discoid lupus rash">Discoid lupus rash</a></span></li><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/1729641" ref="tree=MeSH" title="MedGen record for COVID-19 Rash">COVID-19 Rash</a></span></li><li><span class="TLline"><a href="/medgen/812051" ref="tree=MeSH" title="MedGen record for Discoid Rash">Discoid Rash</a></span></li><li><span class="TLline"><a href="/medgen/8328" ref="tree=MeSH" title="MedGen record for Eruption caused by drug">Eruption caused by drug</a></span></li><li><span class="TLline"><a href="/medgen/4526" ref="tree=MeSH" title="MedGen record for Erythema migrans">Erythema migrans</a></span></li><li><span class="TLline"><a href="/medgen/41909" ref="tree=MeSH" title="MedGen record for Exanthema subitum">Exanthema subitum</a></span></li><li><span class="TLline"><a href="/medgen/526188" ref="tree=MeSH" title="MedGen record for Macular eruption">Macular eruption</a></span></li><li><span class="TLline"><a href="/medgen/98072" ref="tree=MeSH" title="MedGen record for Maculopapular exanthema">Maculopapular exanthema</a></span></li><li><span class="TLline"><a href="/medgen/75808" ref="tree=MeSH" title="MedGen record for Malar rash">Malar rash</a></span></li><li><span class="TLline"><a href="/medgen/44443" ref="tree=MeSH" title="MedGen record for Miliaria">Miliaria</a></span></li><li><span class="TLline"><a href="/medgen/115972" ref="tree=MeSH" title="MedGen record for Morbilliform rash">Morbilliform rash</a></span></li><li><span class="TLline"><a href="/medgen/388569" ref="tree=MeSH" title="MedGen record for Papulopustular Rash">Papulopustular Rash</a></span></li><li><span class="TLline"><a href="/medgen/508043" ref="tree=MeSH" title="MedGen record for Polymorphic light eruption">Polymorphic light eruption</a></span></li><li><span class="TLline"><a href="/medgen/43222" ref="tree=MeSH" title="MedGen record for Pustular rash">Pustular rash</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1391951" ref="tree=MeSH" title="MedGen record for Heliotrope rash">Heliotrope rash</a></span><ul><li><span class="TLline"><a href="/medgen/909660" ref="tree=MeSH" title="MedGen record for Heliotrope rash of eyelid">Heliotrope rash of eyelid</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/536328" ref="tree=MeSH" title="MedGen record for Papulovesicular eruption">Papulovesicular eruption</a></span></li><li><span class="TLline"><a href="/medgen/537751" ref="tree=MeSH" title="MedGen record for Vesicular eruption">Vesicular eruption</a></span><ul><li><span class="TLline"><a href="/medgen/1782150" ref="tree=MeSH" title="MedGen record for Monomorphic vesicular eruption">Monomorphic vesicular eruption</a></span></li><li><span class="TLline"><a href="/medgen/1784678" ref="tree=MeSH" title="MedGen record for Polymorphic vesicular eruption">Polymorphic vesicular eruption</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1620848" ref="tree=MeSH" title="MedGen record for Superficial dermal perivascular inflammatory infiltrate">Superficial dermal perivascular inflammatory infiltrate</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_332072"><div><strong>DK1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332072</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.">C1835849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332072">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_354935"><div><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354935</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.">C1863236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The ADA deficiency phenotypic spectrum includes typical early-onset severe combined immunodeficiency (ADA-SCID), diagnosed in infancy (about 80% of individuals), and less severe "delayed" or "late-onset" combined immunodeficiency (ADA-CID), diagnosed in older children and adults (15%-20% of individuals). Some healthy individuals who are deficient in red blood cell ADA (termed "partial ADA deficiency") have been discovered by screening populations or relatives of individuals with ADA-SCID. Newborn screening (NBS) for SCID uses extracts from Guthrie card dried blood spots to measure T-cell receptor excision circle (TREC) DNA by polymerase chain reaction (PCR). Screening specific for ADA deficiency can also be performed by detection of elevated levels of adenosine (Ado) and deoxyadenosine (dAdo) by tandem mass spectrometry (TMS). Both techniques can identify ADA-SCID before affected infants become symptomatic. Untreated ADA-SCID presents as life-threatening opportunistic illnesses in the first weeks to months of life with poor linear growth and weight gain secondary to persistent diarrhea, extensive dermatitis, and recurrent pneumonia. Skeletal abnormalities affecting ribs and vertebra, pulmonary alveolar proteinosis, hemolytic anemia, neurologic abnormalities, and transaminitis may also suggest untreated ADA-SCID. Characteristic immune abnormalities are lymphocytopenia (low numbers of T, B, and NK cells) combined with the absence of both humoral and cellular immune function. If immune function is not restored with enzyme replacement therapy (ERT), gene therapy, or hematopoietic stem cell transplantation (HSCT), children with ADA-SCID rarely survive beyond age one to two years. NBS for SCID does not identify individuals with the ADA-CID phenotype whose TREC numbers are above the threshold values of most screening laboratories. However, ADA-CID is identified by TMS NBS since the ADA substrates Ado and dAdo are increased. As TMS NBS for Ado/dAdo is not yet widely performed, individuals with ADA-CID are more often clinically diagnosed between ages one and ten years ("delayed" onset), or less often in the second to fourth decades ("late"/"adult" onset). Because the immunologic abnormalities are less pronounced than those of ADA-SCID, infections in ADA-CID may not be life-threatening and include recurrent otitis media, sinusitis, upper respiratory infections, and human papilloma viral infections. Untreated individuals with ADA-CID can develop over time chronic pulmonary disease, autoimmunity, atopic disease with elevated immunoglobulin E, and malignancy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/354935">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_351273"><div><strong>Majeed syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351273</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.">C1864997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with LPIN2-related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic sterile multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Recurrent bone pain is frequently localized near the joints, often of the long bones of the lower extremities. Recurrent osteomyelitis with joint swelling can lead to subsequent joint contractures. Congenital dyserythropoietic, microcytic anemia can range from mild to severe and sometimes requires blood transfusion. Neutrophilic dermatosis typically presents as transient painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates. Other features of LPIN2-related Majeed syndrome include the development of hepatosplenomegaly and gastrointestinal symptoms, such as recurrent abdominal pain and/or recurrent diarrhea. As more families are being described, individuals with milder features are now being recognized.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/351273">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766992"><div><strong>Branched-chain keto acid dehydrogenase kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766992</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.">C3554078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766992">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934587"><div><strong>Yao syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934587</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.">C4310620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934587">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1765785"><div><strong>VEXAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1765785</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.">C5435753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1765785">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1855512"><div><strong>Autoinflammation with arthritis and vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855512</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.">C5935634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autoinflammation with arthritis and vasculitis (AIARV) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis. Laboratory studies are consistent with an inflammatory state. Although patients may have recurrent infections, the infections are not severe. Additional features may include poor overall growth, microcytic anemia, mildly impaired intellectual development, seizures, and variable brain imaging abnormalities. Treatment with TNF (191160) inhibitors may result in clinical improvement (Taft et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1855512">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation with arthritis and vasculitis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branched-chain keto acid dehydrogenase kinase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DK1-congenital disorder of glycosylation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Majeed syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1765785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VEXAS syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yao syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37375394">Skin Pigmentation Types, Causes and Treatment-A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thawabteh AM,
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Jibreen A,
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Karaman D,
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Thawabteh A,
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Karaman R</span><br />
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<span class="medgenPMjournal">Molecules</span>
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2023 Jun 18;28(12)
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doi: 10.3390/molecules28124839.
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<span class="bold">PMID: </span><a href="/pubmed/37375394" target="_blank">37375394</a><a href="/pmc/articles/PMC10304091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34437922">JAK inhibitors in the treatment of atopic dermatitis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chovatiya R,
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Paller AS</span><br />
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<span class="medgenPMjournal">J Allergy Clin Immunol</span>
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2021 Oct;148(4):927-940.
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Epub 2021 Aug 24
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doi: 10.1016/j.jaci.2021.08.009.
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<span class="bold">PMID: </span><a href="/pubmed/34437922" target="_blank">34437922</a><a href="/pmc/articles/PMC10166130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31012139">POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dispenzieri A</span><br />
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<span class="medgenPMjournal">Am J Hematol</span>
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2019 Jul;94(7):812-827.
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Epub 2019 May 23
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doi: 10.1002/ajh.25495.
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<span class="bold">PMID: </span><a href="/pubmed/31012139" target="_blank">31012139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inflammatory%20abnormality%20of%20the%20skin)%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 (152)</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/35701269">Epidermolysis bullosa acquisita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto D,
|
||
Gordilho JO,
|
||
Santi CG,
|
||
Porro AM</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2022 Jul-Aug;97(4):409-423.
|
||
Epub 2022 Jun 11
|
||
doi: 10.1016/j.abd.2021.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35701269" target="_blank">35701269</a><a href="/pmc/articles/PMC9263658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34468934">The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elbuluk N,
|
||
Grimes P,
|
||
Chien A,
|
||
Hamzavi I,
|
||
Alexis A,
|
||
Taylor S,
|
||
Gonzalez N,
|
||
Weiss J,
|
||
Desai SR,
|
||
Kang S</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Nov;22(6):829-836.
|
||
Epub 2021 Sep 1
|
||
doi: 10.1007/s40257-021-00633-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34468934" target="_blank">34468934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34292508">Investigational Treatments for Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou PC,
|
||
Wang HT,
|
||
Abhee S,
|
||
Tu WT,
|
||
McGrath JA,
|
||
Hsu CK</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Nov;22(6):801-817.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1007/s40257-021-00626-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34292508" target="_blank">34292508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33886133">Pathophysiology of psoriasis: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamanaka K,
|
||
Yamamoto O,
|
||
Honda T</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2021 Jun;48(6):722-731.
|
||
Epub 2021 Apr 22
|
||
doi: 10.1111/1346-8138.15913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33886133" target="_blank">33886133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31012139">POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2019 Jul;94(7):812-827.
|
||
Epub 2019 May 23
|
||
doi: 10.1002/ajh.25495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31012139" target="_blank">31012139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20abnormality%20of%20the%20skin%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 (781)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35427179">Classification of human chronic inflammatory skin disease based on single-cell immune profiling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
|
||
Wang H,
|
||
Taylor M,
|
||
Cook C,
|
||
Martínez-Berdeja A,
|
||
North JP,
|
||
Harirchian P,
|
||
Hailer AA,
|
||
Zhao Z,
|
||
Ghadially R,
|
||
Ricardo-Gonzalez RR,
|
||
Grekin RC,
|
||
Mauro TM,
|
||
Kim E,
|
||
Choi J,
|
||
Purdom E,
|
||
Cho RJ,
|
||
Cheng JB</span><br />
|
||
<span class="medgenPMjournal">Sci Immunol</span>
|
||
2022 Apr 15;7(70):eabl9165.
|
||
doi: 10.1126/sciimmunol.abl9165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35427179" target="_blank">35427179</a><a href="/pmc/articles/PMC9301819" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34292508">Investigational Treatments for Epidermolysis Bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou PC,
|
||
Wang HT,
|
||
Abhee S,
|
||
Tu WT,
|
||
McGrath JA,
|
||
Hsu CK</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Nov;22(6):801-817.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1007/s40257-021-00626-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34292508" target="_blank">34292508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34081097">Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khouri J,
|
||
Nakashima M,
|
||
Wong S</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2021 Sep 1;7(9):1383-1391.
|
||
doi: 10.1001/jamaoncol.2021.0586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34081097" target="_blank">34081097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31012139">POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2019 Jul;94(7):812-827.
|
||
Epub 2019 May 23
|
||
doi: 10.1002/ajh.25495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31012139" target="_blank">31012139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30498913">POEMS syndrome: clinical update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R,
|
||
Ginsberg L</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2019 Jan;266(1):268-277.
|
||
Epub 2018 Nov 29
|
||
doi: 10.1007/s00415-018-9110-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30498913" target="_blank">30498913</a><a href="/pmc/articles/PMC6342878" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20abnormality%20of%20the%20skin%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 (1067)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34468934">The Pathogenesis and Management of Acne-Induced Post-inflammatory Hyperpigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elbuluk N,
|
||
Grimes P,
|
||
Chien A,
|
||
Hamzavi I,
|
||
Alexis A,
|
||
Taylor S,
|
||
Gonzalez N,
|
||
Weiss J,
|
||
Desai SR,
|
||
Kang S</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2021 Nov;22(6):829-836.
|
||
Epub 2021 Sep 1
|
||
doi: 10.1007/s40257-021-00633-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34468934" target="_blank">34468934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34437922">JAK inhibitors in the treatment of atopic dermatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chovatiya R,
|
||
Paller AS</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2021 Oct;148(4):927-940.
|
||
Epub 2021 Aug 24
|
||
doi: 10.1016/j.jaci.2021.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34437922" target="_blank">34437922</a><a href="/pmc/articles/PMC10166130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32845587">Post-Inflammatory Hyperpigmentation: A Review of Treatment Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy A,
|
||
Madan R</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2020 Aug 1;19(8):763-768.
|
||
doi: 10.36849/JDD.2020.4887.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32845587" target="_blank">32845587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32751360">Nutrition and Psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanda N,
|
||
Hoashi T,
|
||
Saeki H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Jul 29;21(15)
|
||
doi: 10.3390/ijms21155405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32751360" target="_blank">32751360</a><a href="/pmc/articles/PMC7432353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31012139">POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2019 Jul;94(7):812-827.
|
||
Epub 2019 May 23
|
||
doi: 10.1002/ajh.25495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31012139" target="_blank">31012139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20abnormality%20of%20the%20skin%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 (917)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37440739">Fatigue in Adults: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latimer KM,
|
||
Gunther A,
|
||
Kopec M</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2023 Jul;108(1):58-69.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37440739" target="_blank">37440739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34487318">Current Concepts on the Pathogenesis of Systemic Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Truchetet ME,
|
||
Brembilla NC,
|
||
Chizzolini C</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2023 Jun;64(3):262-283.
|
||
Epub 2021 Sep 6
|
||
doi: 10.1007/s12016-021-08889-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34487318" target="_blank">34487318</a><a href="/pmc/articles/PMC10167130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35701269">Epidermolysis bullosa acquisita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto D,
|
||
Gordilho JO,
|
||
Santi CG,
|
||
Porro AM</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2022 Jul-Aug;97(4):409-423.
|
||
Epub 2022 Jun 11
|
||
doi: 10.1016/j.abd.2021.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35701269" target="_blank">35701269</a><a href="/pmc/articles/PMC9263658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34081097">Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khouri J,
|
||
Nakashima M,
|
||
Wong S</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2021 Sep 1;7(9):1383-1391.
|
||
doi: 10.1001/jamaoncol.2021.0586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34081097" target="_blank">34081097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28712039">Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreli C,
|
||
Gasparini G,
|
||
Parodi A,
|
||
Cozzani E,
|
||
Rongioletti F,
|
||
Atzori L</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2017 Dec;53(3):306-336.
|
||
doi: 10.1007/s12016-017-8625-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28712039" target="_blank">28712039</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20abnormality%20of%20the%20skin%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 (435)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38770982">S2k guideline for the treatment of hidradenitis suppurativa / acne inversa - Short version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zouboulis CC,
|
||
Bechara FG,
|
||
Fritz K,
|
||
Goebeler M,
|
||
Hetzer FH,
|
||
Just E,
|
||
Kirsten N,
|
||
Kokolakis G,
|
||
Kurzen H,
|
||
Nikolakis G,
|
||
Pinter A,
|
||
Podda M,
|
||
Rosinski K,
|
||
Schneider-Burrus S,
|
||
Taube KM,
|
||
Volz T,
|
||
Winkler T,
|
||
Kristandt A,
|
||
Presser D,
|
||
Zouboulis VA</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2024 Jun;22(6):868-889.
|
||
Epub 2024 May 21
|
||
doi: 10.1111/ddg.15412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38770982" target="_blank">38770982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35218370">Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefferdink R,
|
||
Rangel SM,
|
||
Chima M,
|
||
Ibler E,
|
||
Pavel AB,
|
||
Kim H,
|
||
Wu B,
|
||
Abu-Zayed H,
|
||
Wu J,
|
||
Jackson K,
|
||
Singer G,
|
||
Choate KA,
|
||
Guttman-Yassky E,
|
||
Paller AS</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol Res</span>
|
||
2023 Mar;315(2):305-315.
|
||
Epub 2022 Feb 26
|
||
doi: 10.1007/s00403-022-02325-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35218370" target="_blank">35218370</a><a href="/pmc/articles/PMC10234080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34081097">Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khouri J,
|
||
Nakashima M,
|
||
Wong S</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2021 Sep 1;7(9):1383-1391.
|
||
doi: 10.1001/jamaoncol.2021.0586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34081097" target="_blank">34081097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453290">The molecular features of normal and atopic dermatitis skin in infants, children, adolescents, and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renert-Yuval Y,
|
||
Del Duca E,
|
||
Pavel AB,
|
||
Fang M,
|
||
Lefferdink R,
|
||
Wu J,
|
||
Diaz A,
|
||
Estrada YD,
|
||
Canter T,
|
||
Zhang N,
|
||
Wagner A,
|
||
Chamlin S,
|
||
Krueger JG,
|
||
Guttman-Yassky E,
|
||
Paller AS</span><br />
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||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2021 Jul;148(1):148-163.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1016/j.jaci.2021.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453290" target="_blank">33453290</a><a href="/pmc/articles/PMC9285652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30138145">POEMS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keddie S,
|
||
Lunn MP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2018 Oct;31(5):551-558.
|
||
doi: 10.1097/WCO.0000000000000610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30138145" target="_blank">30138145</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20abnormality%20of%20the%20skin%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 (714)</a></div></div>
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||
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|
||
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38132113">Cytokines and Epidermal Lipid Abnormalities in Atopic Dermatitis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Upadhyay PR,
|
||
Seminario-Vidal L,
|
||
Abe B,
|
||
Ghobadi C,
|
||
Sims JT</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2023 Dec 8;12(24)
|
||
doi: 10.3390/cells12242793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38132113" target="_blank">38132113</a><a href="/pmc/articles/PMC10741881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35915291">Treatment of enterocutaneous fistula: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gefen R,
|
||
Garoufalia Z,
|
||
Zhou P,
|
||
Watson K,
|
||
Emile SH,
|
||
Wexner SD</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2022 Nov;26(11):863-874.
|
||
Epub 2022 Aug 1
|
||
doi: 10.1007/s10151-022-02656-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35915291" target="_blank">35915291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35536546">Dermoscopy of cutaneous adnexal tumours: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai M,
|
||
Muscianese M,
|
||
Piana S,
|
||
Chester J,
|
||
Borsari S,
|
||
Paolino G,
|
||
Pellacani G,
|
||
Longo C,
|
||
Pampena R</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2022 Sep;36(9):1524-1540.
|
||
Epub 2022 May 25
|
||
doi: 10.1111/jdv.18210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35536546" target="_blank">35536546</a><a href="/pmc/articles/PMC9545415" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32668290">Rhupus: a systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antonini L,
|
||
Le Mauff B,
|
||
Marcelli C,
|
||
Aouba A,
|
||
de Boysson H</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2020 Sep;19(9):102612.
|
||
Epub 2020 Jul 12
|
||
doi: 10.1016/j.autrev.2020.102612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32668290" target="_blank">32668290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32399815">An Update on the Pathogenesis of Skin Damage in Lupus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
||
Wu H,
|
||
Zhou S,
|
||
Zhao M,
|
||
Lu Q</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2020 May 12;22(5):16.
|
||
doi: 10.1007/s11926-020-00893-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32399815" target="_blank">32399815</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20abnormality%20of%20the%20skin%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Inflammatory%20abnormality%20of%20the%20skin" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inflammatory%20abnormality%20of%20the%20skin)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Inflammatory%20abnormality%20of%20the%20skin%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d0b6d5f4a390645ec77829">Inflammatory abnormality of the skin</a>
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