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<meta name="keywords" content="C0151811, firm lump under the skin, growth of abnormal tissue under the skin, multiple, subcutaneous nodules, nodule below the skin, nodule of subcutaneous tissue, pathologic function, subcutaneous nodule, subcutaneous nodules, 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="Slightly elevated lesions on or in the skin with a diameter of over 5 mm." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Subcutaneous nodule (Concept Id: C0151811)
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<!--
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UID=101803
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ConceptID=C0151811
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Subcutaneous nodule</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101803</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:">C0151811</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Subcutaneous nodules</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Subcutaneous nodule (95325000); Nodule of subcutaneous tissue (95325000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001482">HP:0001482</a></td></tr>
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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>
|
||
<div class="portlet_content ln">Slightly elevated lesions on or in the skin with a diameter of over 5 mm. [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_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>
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<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">Subcutaneous nodule</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/761917" ref="tree=MeSH" title="MedGen record for Sign or Symptom">Sign or Symptom</a></span><ul><li><span class="TLline"><a href="/medgen/232646" ref="tree=MeSH" title="MedGen record for Integumentary System Signs and Symptoms">Integumentary System Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/52367" ref="tree=MeSH" title="MedGen record for Skin nodule">Skin nodule</a></span><ul><li><span class="matched_ds">Subcutaneous nodule</span><ul><li><span class="TLline"><a href="/medgen/812636" ref="tree=MeSH" title="MedGen record for Periarticular subcutaneous nodules">Periarticular subcutaneous nodules</a></span></li><li><span class="TLline"><a href="/medgen/19781" ref="tree=MeSH" title="MedGen record for Rheumatoid nodule">Rheumatoid nodule</a></span></li><li><span class="TLline"><a href="/medgen/927609" ref="tree=MeSH" title="MedGen record for Subcutaneous spheroids">Subcutaneous spheroids</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>
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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">
|
||
<div class="divPopper rprt" id="rdis_18145"><div><strong>Lowe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18145</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.">C0028860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78103"><div><strong>Knuckle pads</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78103</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.">C0264000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78654"><div><strong>Farber lipogranulomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78654</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.">C0268255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78654">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98152"><div><strong>Winchester syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98152</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.">C0432289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Winchester syndrome (WNCHRS) presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). Reviews Winter (1989) provided a review of Winchester syndrome. De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98152">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342428"><div><strong>Multicentric osteolysis nodulosis arthropathy spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342428</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.">C1850155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344288"><div><strong>Tuberous sclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</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.">C1854465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343422"><div><strong>Hypoproteinemia, hypercatabolic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343422</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.">C1855796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-43 (IMD43) is an autosomal recessive immunologic disorder characterized by decreased or absent expression of MHC class I molecules on the cell surface. Most affected individuals develop recurrent bacterial respiratory tract infections in childhood or adulthood, which may progress to bronchiectasis, and about half develop ulcerating or necrotizing granulomatous inflammatory skin lesions. Laboratory studies show decreased numbers of B cells, hypogammaglobulinemia, hypoproteinemia, and decreased alpha-beta CD8+ T cells with increased gamma-delta CD8+ T cells. The severity is variable, and some individuals may be asymptomatic (summary by Ardeniz et al., 2015). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343422">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348170"><div><strong>Tuberous sclerosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348170</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.">C1860707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348170">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411605"><div><strong>Leukocyte adhesion deficiency 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411605</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.">C2748536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411605">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648482"><div><strong>Proteasome-associated autoinflammatory syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648482</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.">C4747989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1673640"><div><strong>Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673640</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.">C5193037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CASGID syndrome is characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia (Rumping et al., 2019; Stutterd et al., 2022; Rumping et al., 2023). A gain-of-function mutation in the GLS gene was found (see MOLECULAR GENETICS) in the patient reported by Rumping et al. (2019). GLS loss of function is implicated in developmental and epileptic encephalopathy-71 (DEE71; 618328) and a syndrome of global developmental delay and progressive ataxia (GDPAG; 618412).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1673640">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1805033"><div><strong>Hyaline fibromatosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805033</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.">C5574677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1805033">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Farber lipogranulomatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1805033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyaline fibromatosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoproteinemia, hypercatabolic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knuckle pads</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocyte adhesion deficiency 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowe syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multicentric osteolysis nodulosis arthropathy spectrum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Winchester syndrome</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/26041323">Diagnosis and treatment of perineal endometriosis: review of 17 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Shi Y,
|
||
Zhou C,
|
||
Lin J</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2015 Dec;292(6):1295-9.
|
||
Epub 2015 Jun 4
|
||
doi: 10.1007/s00404-015-3756-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26041323" target="_blank">26041323</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8635943">Feasibility study of the treatment of primary unresectable carcinoma of the pancreas with 103Pd brachytherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raben A,
|
||
Mychalczak B,
|
||
Brennan MF,
|
||
Minsky B,
|
||
Anderson L,
|
||
Casper ES,
|
||
Harrison LB</span><br />
|
||
<span class="medgenPMjournal">Int J Radiat Oncol Biol Phys</span>
|
||
1996 May 1;35(2):351-6.
|
||
doi: 10.1016/0360-3016(95)02136-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8635943" target="_blank">8635943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8703269">Bacillary angiomatosis: microbiology, histopathology, clinical presentation, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramírez Ramírez CR,
|
||
Saavedra S,
|
||
Ramírez Ronda C</span><br />
|
||
<span class="medgenPMjournal">Bol Asoc Med P R</span>
|
||
1995 Jul-Sep;87(7-9):140-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8703269" target="_blank">8703269</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22subcutaneous%20nodule%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 (7)</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/30369856">Human Sparganosis in Korea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JG,
|
||
Ahn CS,
|
||
Sohn WM,
|
||
Nawa Y,
|
||
Kong Y</span><br />
|
||
<span class="medgenPMjournal">J Korean Med Sci</span>
|
||
2018 Oct 29;33(44):e273.
|
||
Epub 2018 Sep 21
|
||
doi: 10.3346/jkms.2018.33.e273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30369856" target="_blank">30369856</a><a href="/pmc/articles/PMC6200907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21768251">Radial nerve palsy in the newborn: a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsubhi FS,
|
||
Althunyan AM,
|
||
Curtis CG,
|
||
Clarke HM</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2011 Sep 6;183(12):1367-70.
|
||
Epub 2011 Jul 18
|
||
doi: 10.1503/cmaj.110272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21768251" target="_blank">21768251</a><a href="/pmc/articles/PMC3168619" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16527779">Intravitreal dirofilariasis: a rare ocular infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorezis S,
|
||
Psilla M,
|
||
Asproudis I,
|
||
Peschos D,
|
||
Papadopoulou C,
|
||
Stefaniotou M</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2006 Mar;25(1):57-9.
|
||
doi: 10.1080/01676830500499224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16527779" target="_blank">16527779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16445402">Plexiform fibrohistiocytic tumor in three children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jafarian F,
|
||
McCuaig C,
|
||
Kokta V,
|
||
Hatami A,
|
||
Savard P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2006 Jan-Feb;23(1):7-12.
|
||
doi: 10.1111/j.1525-1470.2006.00160.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16445402" target="_blank">16445402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1977990">Buruli ulcer in Benin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muelder K,
|
||
Nourou A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1990 Nov 3;336(8723):1109-11.
|
||
doi: 10.1016/0140-6736(90)92581-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1977990" target="_blank">1977990</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subcutaneous%20nodule%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 (75)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37406317">Subcutaneous Nodule on the Postauricular Neck.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garg KS,
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Cardis M</span><br />
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2023 May;111(5):227-240.
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<span class="bold">PMID: </span><a href="/pubmed/37406317" target="_blank">37406317</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35137488">Subcutaneous nodules following vaccination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Collinson AC,
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Moore L,
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Cheung A,
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Gold MS,
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Goh DW</span><br />
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<span class="medgenPMjournal">J Paediatr Child Health</span>
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2022 Mar;58(3):388-391.
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Epub 2022 Feb 9
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doi: 10.1111/jpc.15900.
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<span class="bold">PMID: </span><a href="/pubmed/35137488" target="_blank">35137488</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35125151">Skin Biopsy Techniques.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Greenwood JD,
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<span class="medgenPMjournal">Prim Care</span>
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<span class="bold">PMID: </span><a href="/pubmed/35125151" target="_blank">35125151</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29072302">Merkel cell carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Becker JC,
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Stang A,
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<div class="nl"><a target="_blank" href="/pubmed/28954120">Pencil-core granuloma.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subcutaneous%20nodule%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 (394)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35239278">Post-vaccination aluminium granulomas in children.</a></div>
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<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
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2022 Mar 1;142(4)
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<span class="bold">PMID: </span><a href="/pubmed/35239278" target="_blank">35239278</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35137488">Subcutaneous nodules following vaccination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Collinson AC,
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Moore L,
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Cheung A,
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Gold MS,
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Goh DW</span><br />
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<span class="medgenPMjournal">J Paediatr Child Health</span>
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2022 Mar;58(3):388-391.
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Epub 2022 Feb 9
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doi: 10.1111/jpc.15900.
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<span class="bold">PMID: </span><a href="/pubmed/35137488" target="_blank">35137488</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subcutaneous%20nodule%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 (125)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35239278">Post-vaccination aluminium granulomas in children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ravndal L,
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Bergfors E,
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Behzadi M,
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Barstad B,
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Steinkjer B,
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Kjosavik S</span><br />
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2022 Mar 1;142(4)
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<span class="bold">PMID: </span><a href="/pubmed/35239278" target="_blank">35239278</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31376366">EWSR1-SMAD3 positive fibroblastic tumor.</a></div>
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Sun M,
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<span class="bold">PMID: </span><a href="/pubmed/31376366" target="_blank">31376366</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30369856">Human Sparganosis in Korea.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kim JG,
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Ahn CS,
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Sohn WM,
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<div class="nl"><a target="_blank" href="/pubmed/29072302">Merkel cell carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Becker JC,
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Stang A,
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DeCaprio JA,
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Cerroni L,
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Lebbé C,
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Veness M,
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<span class="bold">PMID: </span><a href="/pubmed/29072302" target="_blank">29072302</a><a href="/pmc/articles/PMC6054450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8599444">Cellular angiolipoma.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subcutaneous%20nodule%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 (94)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35137488">Subcutaneous nodules following vaccination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Collinson AC,
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Moore L,
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Cheung A,
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Gold MS,
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Goh DW</span><br />
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Epub 2022 Feb 9
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<span class="bold">PMID: </span><a href="/pubmed/35137488" target="_blank">35137488</a></div>
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Harvell JD,
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Friedman KJ,
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<div class="nl"><a target="_blank" href="/pubmed/1451323">Skin metastasis in laryngeal carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Horiuchi N,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subcutaneous%20nodule%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 (71)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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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>
|
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/34060130">Clinicopathological and prognostic study of primary cutaneous extranodal natural killer/T-cell lymphoma, nasal type: A systematic review.</a></div>
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Yang HJ,
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Lee MW,
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Epub 2021 Jun 1
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<span class="bold">PMID: </span><a href="/pubmed/34060130" target="_blank">34060130</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19330184">Bilateral adrenal metastases and metastatic subcutaneous deposit in the chest wall from osteosarcoma of the mandible: utility of 18F-FDG-PET.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Basu S,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subcutaneous%20nodule%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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