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<!--
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UID=677074
|
||
ConceptID=C0745730
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple lipomas</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>677074</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.">C0745730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Lipomas; Lipomatosis; Multiple fatty lumps; Multiple lipomata</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Multiple lipomata (404062002)</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:0001012">HP:0001012</a></td></tr>
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||
<div class="portlet_content ln">The presence of multiple lipomas (a type of benign tissue made of fatty tissue). [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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0745730[DISCUI]&test_type=Clinical" ref="ncbi_uid=677074">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Multiple lipomas</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/60224" ref="tree=MeSH" title="MedGen record for Connective and soft tissue neoplasm">Connective and soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/61646" ref="tree=MeSH" title="MedGen record for Lipomatous tumor">Lipomatous tumor</a></span><ul><li><span class="matched_ds">Multiple lipomas</span><ul><li><span class="TLline"><a href="/medgen/96064" ref="tree=MeSH" title="MedGen record for Pelvic lipomatosis">Pelvic lipomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1381947" ref="tree=MeSH" title="MedGen record for Testicular lipomatosis">Testicular lipomatosis</a></span></li></ul></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_7349"><div><strong>Multiple symmetric lipomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7349</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.">C0023804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple symmetric lipomatosis (MSL) is an autosomal recessive metabolic disorder characterized by the growth of unencapsulated masses of adipose tissue with predilection for the cervical and thoracic regions. The lipoma growth is striking and disfiguring, and growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Most, but not all, patients develop axonal peripheral neuropathy, which can appear at any age and varies in severity. Laboratory studies in MSL show low leptin (164160), low adiponectin (605441), variably increased lactate, and increased FGF21 (609436). Some patients may have insulin resistance. The disorder is exclusively associated with a particular MFN2 mutation (R707W; 608507.0013), usually in the homozygous state, but sometimes in the compound heterozygous state (Rocha et al., 2017; Capel et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39008"><div><strong>Proteus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39008</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.">C0085261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals PS has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_698553"><div><strong>Familial multiple lipomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698553</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.">C1275273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial multiple lipomatosis (FML) is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/698553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322173"><div><strong>Familial hypocalciuric hypercalcemia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322173</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.">C1833372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322173">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374447"><div><strong>Familial hypocalciuric hypercalcemia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374447</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.">C1840347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by Nesbit et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 (145980).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387773"><div><strong>Disorganization, mouse, homolog of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387773</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.">C1857230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387773">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357183"><div><strong>Scalp-ear-nipple syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357183</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.">C1867020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357183">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370709"><div><strong>Legius syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370709</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:">C1969623</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370709">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_398651"><div><strong>Familial adenomatous polyposis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398651</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.">C2713442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398651">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_856010"><div><strong>Neural tube defects, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856010</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.">C3891448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/856010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1620960"><div><strong>Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620960</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.">C4540096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1620960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841312"><div><strong>Birt-Hogg-Dube syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841312</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.">C5830676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1051978"><div><strong>Birt-Hogg-Dube syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1051978</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN375946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts / history of pneumothorax, renal cysts, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are mainly in the basal lung regions; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Renal tumors can be bilateral and multifocal. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor); clear cell carcinoma and oncocytoma are also common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1051978">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1051978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Birt-Hogg-Dube syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Birt-Hogg-Dube syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disorganization, mouse, homolog of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypocalciuric hypercalcemia 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypocalciuric hypercalcemia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_698553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial multiple lipomatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Legius syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1620960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple symmetric lipomatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_856010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neural tube defects, susceptibility to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scalp-ear-nipple 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/22546240">Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hansson E,
|
||
Svensson H,
|
||
Brorson H</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Apr 30;7:23.
|
||
doi: 10.1186/1750-1172-7-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22546240" target="_blank">22546240</a><a href="/pmc/articles/PMC3444313" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10400993">PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marsh DJ,
|
||
Kum JB,
|
||
Lunetta KL,
|
||
Bennett MJ,
|
||
Gorlin RJ,
|
||
Ahmed SF,
|
||
Bodurtha J,
|
||
Crowe C,
|
||
Curtis MA,
|
||
Dasouki M,
|
||
Dunn T,
|
||
Feit H,
|
||
Geraghty MT,
|
||
Graham JM Jr,
|
||
Hodgson SV,
|
||
Hunter A,
|
||
Korf BR,
|
||
Manchester D,
|
||
Miesfeldt S,
|
||
Murday VA,
|
||
Nathanson KL,
|
||
Parisi M,
|
||
Pober B,
|
||
Romano C,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1999 Aug;8(8):1461-72.
|
||
doi: 10.1093/hmg/8.8.1461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10400993" target="_blank">10400993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6670522">Size, site and clinical incidence of lipoma. Factors in the differential diagnosis of lipoma and sarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rydholm A,
|
||
Berg NO</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Scand</span>
|
||
1983 Dec;54(6):929-34.
|
||
doi: 10.3109/17453678308992936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6670522" target="_blank">6670522</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22multiple%20lipomas%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 (3)</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/34187516">Metabolic and immunological phenotype of rare lipomatoses: Dercum's disease and Roch-Leri mesosomatic lipomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemaitre M,
|
||
Chevalier B,
|
||
Jannin A,
|
||
Le Mapihan K,
|
||
Boury S,
|
||
Lion G,
|
||
Labalette M,
|
||
Vantyghem MC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jun 29;16(1):290.
|
||
doi: 10.1186/s13023-021-01920-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187516" target="_blank">34187516</a><a href="/pmc/articles/PMC8243498" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22250724">Bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Meer S,
|
||
Nicolai JP,
|
||
Schut SM,
|
||
Meek MF</span><br />
|
||
<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
|
||
2011 Dec;45(6):303-6.
|
||
doi: 10.3109/2000656X.2011.575582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22250724" target="_blank">22250724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14524037">Proteus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dragieva G,
|
||
Stahel HU,
|
||
Meyer M,
|
||
Kempf W,
|
||
Häffner A,
|
||
Burg G,
|
||
Hafner J</span><br />
|
||
<span class="medgenPMjournal">Vasa</span>
|
||
2003 Aug;32(3):159-63.
|
||
doi: 10.1024/0301-1526.32.3.159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14524037" target="_blank">14524037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11156466">Lipomatous polyposis of the colon with multiple lipomas of peritoneal folds and giant diverticulosis: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brouland JP,
|
||
Poupard B,
|
||
Nemeth J,
|
||
Valleur P</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
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2000 Dec;43(12):1767-9.
|
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doi: 10.1007/BF02236867.
|
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<span class="bold">PMID: </span><a href="/pubmed/11156466" target="_blank">11156466</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/8744279">Lipomatous tumors.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Weiss SW</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lipomas%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38506609">More than mere lipomas?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bardazzi F,
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Starace M,
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2019 Dec;154(6):734-735.
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<div class="nl"><a target="_blank" href="/pubmed/16394465">Proteus syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Debi B,
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Nayak S,
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<div class="nl"><a target="_blank" href="/pubmed/8744279">Lipomatous tumors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Weiss SW</span><br />
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<span class="medgenPMjournal">Monogr Pathol</span>
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1996;38:207-39.
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<span class="bold">PMID: </span><a href="/pubmed/8744279" target="_blank">8744279</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1155415">Multiple lipomas of the stomach and duodenum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deeths TM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lipomas%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 (39)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/24600803">Case report of an oral fibroma occurring in a patient with familial multiple lipomas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Radfar L,
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<div class="nl"><a target="_blank" href="/pubmed/17576334">Fat tissue after lipolysis of lipomas: a histopathological and immunohistochemical study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bechara FG,
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<span class="bold">PMID: </span><a href="/pubmed/17576334" target="_blank">17576334</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17234112">Lipolysis of lipomas in patients with familial multiple lipomatosis: an ultrasonography-controlled trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bechara FG,
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Sand M,
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Sand D,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lipomas%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/22546240">Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hansson E,
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|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/22250724">Bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Meer S,
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/21876333">Prenatal and postnatal imaging of multiple intracranial lipomas: report of a case.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nanni M,
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Bellussi F,
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Youssef A,
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Arcangeli T,
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Maroni E,
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De Musso F,
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Vasapollo B,
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Valensise H,
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Manganaro L,
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<div class="nl"><a target="_blank" href="/pubmed/11156466">Lipomatous polyposis of the colon with multiple lipomas of peritoneal folds and giant diverticulosis: report of a case.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Brouland JP,
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Poupard B,
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Nemeth J,
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Valleur P</span><br />
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<span class="medgenPMjournal">Dis Colon Rectum</span>
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2000 Dec;43(12):1767-9.
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||
doi: 10.1007/BF02236867.
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||
<span class="bold">PMID: </span><a href="/pubmed/11156466" target="_blank">11156466</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/8744279">Lipomatous tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss SW</span><br />
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<span class="medgenPMjournal">Monogr Pathol</span>
|
||
1996;38:207-39.
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||
<span class="bold">PMID: </span><a href="/pubmed/8744279" target="_blank">8744279</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lipomas%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34184188">"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tuli G,
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Mussa A,
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Epub 2021 Jun 28
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doi: 10.1007/s12020-021-02805-y.
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||
<span class="bold">PMID: </span><a href="/pubmed/34184188" target="_blank">34184188</a><a href="/pmc/articles/PMC8571202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22135120">Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Burger B,
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Cattani N,
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Epub 2011 Dec 1
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||
<div class="nl"><a target="_blank" href="/pubmed/20875325">Lipedema with multiple lipomas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pascucci A,
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Klutz M,
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<span class="bold">PMID: </span><a href="/pubmed/11571558" target="_blank">11571558</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/2624267">Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moretti-Ferreira D,
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Koiffmann CP,
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Souza DH,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lipomas%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
||
<div>
|
||
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0745730%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0745730%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0745730%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Multiple%20lipomas" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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