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<meta name="keywords" content="C0155210, benign eyelid xanthelasma, benign xanthelasma of eyelid, benign xanthelasma of the eyelid, disease or syndrome, eyelid xanthoma, fatty deposits in skin around the eyes, fatty deposits on eyelids, xanthelasma, xanthelasma of eyelid, xanthelasma of periocular region, xanthelasma palpebrarum, xanthelasma palpebrum, xanthoma, xanthoma of eyelid, xanthoma of periocular region, xanthoma of the eyelid, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The presence of xanthomata in the skin of the eyelid." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Xanthelasma (Concept Id: C0155210)
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<!--
UID=56357
ConceptID=C0155210
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Xanthelasma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56357</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0155210</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Benign Eyelid Xanthelasma; Benign Xanthelasma of Eyelid; Benign Xanthelasma of the Eyelid; Eyelid Xanthoma; Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma of eyelid; Xanthelasma of periocular region; Xanthelasma palpebrarum; Xanthelasma Palpebrum; Xanthoma; Xanthoma of eyelid; Xanthoma of Eyelid; Xanthoma of periocular region; Xanthoma of the Eyelid</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Xanthelasma palpebrarum (238951005); Xanthelasma (238951005); Xanthoma of eyelid (238951005)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001114">HP:0001114</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">The presence of xanthomata in the skin of the eyelid. [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>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Xanthelasma</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="TLline"><a href="/medgen/869290" ref="tree=MeSH" title="MedGen record for Nodular changes affecting the eyelids">Nodular changes affecting the eyelids</a></span><ul><li><span class="matched_ds">Xanthelasma</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_6965"><div><strong>Hyperlipidemia, familial combined, LPL related</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6965</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020474</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018).&#13; Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (143890) and from familial hypertriglyceridemia (145750) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.&#13; Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia&#13; Also see FCHL1 (602491), associated with variation in the USF1 gene (191523) on chromosome 1q23, and FCHL2 (604499), mapped to chromosome 11.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6965">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_116041"><div><strong>Cholestanol storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116041</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0238052</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116041">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78644"><div><strong>Glucose-6-phosphate transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78644</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268146</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSD Ib are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSD I include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and kidney failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78644">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_87455"><div><strong>Phosphate transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87455</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0342749</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87455">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_152875"><div><strong>Hypercholesterolemia, familial, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152875</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0745103</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (&gt;500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/152875">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_309962"><div><strong>Hypercholesterolemia, autosomal dominant, type B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>309962</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1704417</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (&gt;500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/309962">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341248"><div><strong>Familial isolated deficiency of vitamin E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341248</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1848533</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Untreated ataxia with vitamin E deficiency (AVED) generally manifests between ages five and 15 years. The first manifestations include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. Although age of onset and disease course are more uniform within a given family, disease manifestations and their severity can vary even among sibs. When lifelong high-dose vitamin E supplementation is initiated in presymptomatic individuals, manifestations of AVED do not develop.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341248">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355007"><div><strong>Hypercholesterolemia, autosomal dominant, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355007</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1863551</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (&gt;500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355007">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_440869"><div><strong>Sitosterolemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440869</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2749759</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/440869">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_415885"><div><strong>Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>415885</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2919796</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSD Ib are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSD I include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and kidney failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/415885">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_896409"><div><strong>Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896409</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225270</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Kosaki overgrowth syndrome (KOGS) is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, and have large hands and feet. Skin is hyperelastic and fragile. Patients exhibit progressive dilatory and vascular changes in basilar/vertebral and coronary arteries starting in the teenage years (Takenouchi et al., 2015; Takenouchi et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/896409">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestanol storage disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial isolated deficiency of vitamin E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucose-6-phosphate transport defect</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_415885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia, autosomal dominant, 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_309962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia, autosomal dominant, type B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_152875" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia, familial, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipidemia, familial combined, LPL related</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phosphate transport defect</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sitosterolemia 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions 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/38281689">Evaluation and management of benign tumors of the eye and eyelid.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R,
Fard S,
Feng P,
Kerr PE</span><br />
<span class="medgenPMjournal">Clin Dermatol</span>
2024 Jul-Aug;42(4):343-350.
Epub 2024 Jan 26
doi: 10.1016/j.clindermatol.2024.01.005.
<span class="bold">PMID: </span><a href="/pubmed/38281689" target="_blank">38281689</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36098675">S2k guideline: Laser therapy of the skin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paasch U,
Zidane M,
Baron JM,
Bund T,
Cappius HJ,
Drosner M,
Feise K,
Fischer T,
Gauglitz G,
Gerber PA,
Grunewald S,
Herberger K,
Jung A,
Karsai S,
Kautz G,
Philipp C,
Schädel D,
Seitz AT,
Nast A</span><br />
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
2022 Sep;20(9):1248-1267.
Epub 2022 Sep 13
doi: 10.1111/ddg.14879.
<span class="bold">PMID: </span><a href="/pubmed/36098675" target="_blank">36098675</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30358038">Treatment of Grade I and II types of xanthelasma palpebrarum with intralesional heparin sodium.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ren J,
Zeng LY,
Chen MH</span><br />
<span class="medgenPMjournal">Dermatol Ther</span>
2018 Nov;31(6):e12723.
Epub 2018 Oct 24
doi: 10.1111/dth.12723.
<span class="bold">PMID: </span><a href="/pubmed/30358038" target="_blank">30358038</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22xanthelasma%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 (36)</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/36565218">Adverse reactions to the injection of face and neck aesthetic filling materials: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Machado RA,
Oliveira LQ,
Martelli-Júnior H,
Pires FR,
Carvas JB,
Rogerio VE,
Rabelo VD,
Coletta RD</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2023 May 1;28(3):e278-e284.
doi: 10.4317/medoral.25713.
<span class="bold">PMID: </span><a href="/pubmed/36565218" target="_blank">36565218</a><a href="/pmc/articles/PMC10181027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26452450">Signs and Related Mechanisms of Ethanol Hepatotoxicity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dinis-Oliveira RJ,
Mãgalhaes T,
Queirós O,
Proença JB,
Moreira R,
de Lourdes Bastos M,
Carvalho F</span><br />
<span class="medgenPMjournal">Curr Drug Abuse Rev</span>
2015;8(2):86-103.
doi: 10.2174/1874473708666150916113352.
<span class="bold">PMID: </span><a href="/pubmed/26452450" target="_blank">26452450</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24697530">Cutaneous stigmata associated with insulin resistance and increased cardiovascular risk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schilling WH,
Crook MA</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2014 Sep;53(9):1062-9.
Epub 2014 Apr 2
doi: 10.1111/ijd.12463.
<span class="bold">PMID: </span><a href="/pubmed/24697530" target="_blank">24697530</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9620478">Xanthelasma palpebrarum and risk of atherosclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bergman R</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
1998 May;37(5):343-5.
doi: 10.1046/j.1365-4362.1998.00362.x.
<span class="bold">PMID: </span><a href="/pubmed/9620478" target="_blank">9620478</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6472020">Xanthelasma palpebrarum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Parkes ML,
Waller TS</span><br />
<span class="medgenPMjournal">Laryngoscope</span>
1984 Sep;94(9):1238-40.
doi: 10.1288/00005537-198409000-00019.
<span class="bold">PMID: </span><a href="/pubmed/6472020" target="_blank">6472020</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xanthelasma%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 (135)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36565218">Adverse reactions to the injection of face and neck aesthetic filling materials: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Machado RA,
Oliveira LQ,
Martelli-Júnior H,
Pires FR,
Carvas JB,
Rogerio VE,
Rabelo VD,
Coletta RD</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2023 May 1;28(3):e278-e284.
doi: 10.4317/medoral.25713.
<span class="bold">PMID: </span><a href="/pubmed/36565218" target="_blank">36565218</a><a href="/pmc/articles/PMC10181027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34666405">Delayed Complications following Dermal Filler for Tear Trough Augmentation: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trinh LN,
McGuigan KC,
Gupta A</span><br />
<span class="medgenPMjournal">Facial Plast Surg</span>
2022 Jun;38(3):250-259.
Epub 2021 Oct 19
doi: 10.1055/s-0041-1736390.
<span class="bold">PMID: </span><a href="/pubmed/34666405" target="_blank">34666405</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24165503">Gastric xanthelasma: an unusual endoscopic finding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dhakal M,
Dhakal OP,
Bhandari D,
Gupta A</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2013 Oct 28;2013
doi: 10.1136/bcr-2013-201017.
<span class="bold">PMID: </span><a href="/pubmed/24165503" target="_blank">24165503</a><a href="/pmc/articles/PMC3822080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18216481">Orange palpebral spots.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Assouly P,
Cavelier-Balloy B,
Dupré T</span><br />
<span class="medgenPMjournal">Dermatology</span>
2008;216(2):166-70.
Epub 2008 Jan 23
doi: 10.1159/000111516.
<span class="bold">PMID: </span><a href="/pubmed/18216481" target="_blank">18216481</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12869045">Erdheim-Chester disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Opie KM,
Kaye J,
Vinciullo C</span><br />
<span class="medgenPMjournal">Australas J Dermatol</span>
2003 Aug;44(3):194-8.
doi: 10.1046/j.1440-0960.2003.00677.x.
<span class="bold">PMID: </span><a href="/pubmed/12869045" target="_blank">12869045</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xanthelasma%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 (116)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36565218">Adverse reactions to the injection of face and neck aesthetic filling materials: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Machado RA,
Oliveira LQ,
Martelli-Júnior H,
Pires FR,
Carvas JB,
Rogerio VE,
Rabelo VD,
Coletta RD</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2023 May 1;28(3):e278-e284.
doi: 10.4317/medoral.25713.
<span class="bold">PMID: </span><a href="/pubmed/36565218" target="_blank">36565218</a><a href="/pmc/articles/PMC10181027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34666405">Delayed Complications following Dermal Filler for Tear Trough Augmentation: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trinh LN,
McGuigan KC,
Gupta A</span><br />
<span class="medgenPMjournal">Facial Plast Surg</span>
2022 Jun;38(3):250-259.
Epub 2021 Oct 19
doi: 10.1055/s-0041-1736390.
<span class="bold">PMID: </span><a href="/pubmed/34666405" target="_blank">34666405</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26452450">Signs and Related Mechanisms of Ethanol Hepatotoxicity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dinis-Oliveira RJ,
Mãgalhaes T,
Queirós O,
Proença JB,
Moreira R,
de Lourdes Bastos M,
Carvalho F</span><br />
<span class="medgenPMjournal">Curr Drug Abuse Rev</span>
2015;8(2):86-103.
doi: 10.2174/1874473708666150916113352.
<span class="bold">PMID: </span><a href="/pubmed/26452450" target="_blank">26452450</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24165503">Gastric xanthelasma: an unusual endoscopic finding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dhakal M,
Dhakal OP,
Bhandari D,
Gupta A</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2013 Oct 28;2013
doi: 10.1136/bcr-2013-201017.
<span class="bold">PMID: </span><a href="/pubmed/24165503" target="_blank">24165503</a><a href="/pmc/articles/PMC3822080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6216854">Cosmetic dermatologic surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stegman SJ,
Tromovitch TA</span><br />
<span class="medgenPMjournal">Arch Dermatol</span>
1982 Dec;118(12):1013-6.
<span class="bold">PMID: </span><a href="/pubmed/6216854" target="_blank">6216854</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xanthelasma%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 (90)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39172709">Imaging in Erdheim-Chester Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aswani Y,
Patel A,
Zhan X,
Ansari S,
Marcelino LG,
Aswani N,
Patel DD,
Kandemirli S,
Averill S,
Bhatt S</span><br />
<span class="medgenPMjournal">Radiographics</span>
2024 Sep;44(9):e240011.
doi: 10.1148/rg.240011.
<span class="bold">PMID: </span><a href="/pubmed/39172709" target="_blank">39172709</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32149048">Gastric Xanthoma Associated with Gastric Cancer Development: An Updated Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moumin FA,
Mohamed AA,
Osman AA,
Cai J</span><br />
<span class="medgenPMjournal">Can J Gastroenterol Hepatol</span>
2020;2020:3578927.
Epub 2020 Feb 21
doi: 10.1155/2020/3578927.
<span class="bold">PMID: </span><a href="/pubmed/32149048" target="_blank">32149048</a><a href="/pmc/articles/PMC7054765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24165503">Gastric xanthelasma: an unusual endoscopic finding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dhakal M,
Dhakal OP,
Bhandari D,
Gupta A</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2013 Oct 28;2013
doi: 10.1136/bcr-2013-201017.
<span class="bold">PMID: </span><a href="/pubmed/24165503" target="_blank">24165503</a><a href="/pmc/articles/PMC3822080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20152950">Synophrys.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Möhrenschlager M,
Lauenstein M,
Ring J,
Steiner C</span><br />
<span class="medgenPMjournal">Eur J Med Genet</span>
2010 Jul-Aug;53(4):225-6.
Epub 2010 Feb 10
doi: 10.1016/j.ejmg.2010.02.001.
<span class="bold">PMID: </span><a href="/pubmed/20152950" target="_blank">20152950</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9348469">Aesthetic considerations in patients of color.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kelly AP</span><br />
<span class="medgenPMjournal">Dermatol Clin</span>
1997 Oct;15(4):687-93.
doi: 10.1016/s0733-8635(05)70478-2.
<span class="bold">PMID: </span><a href="/pubmed/9348469" target="_blank">9348469</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xanthelasma%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 (59)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39172709">Imaging in Erdheim-Chester Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aswani Y,
Patel A,
Zhan X,
Ansari S,
Marcelino LG,
Aswani N,
Patel DD,
Kandemirli S,
Averill S,
Bhatt S</span><br />
<span class="medgenPMjournal">Radiographics</span>
2024 Sep;44(9):e240011.
doi: 10.1148/rg.240011.
<span class="bold">PMID: </span><a href="/pubmed/39172709" target="_blank">39172709</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34619007">Animal experimental research of intralesional bleomycin and pingyangmycin in the treatment of xanthoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin XZ,
Hu H,
Zhao X,
Qian YX,
Wang H,
Jiang H,
Zhu L</span><br />
<span class="medgenPMjournal">J Cosmet Dermatol</span>
2022 Jul;21(7):2977-2983.
Epub 2021 Oct 7
doi: 10.1111/jocd.14500.
<span class="bold">PMID: </span><a href="/pubmed/34619007" target="_blank">34619007</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32149048">Gastric Xanthoma Associated with Gastric Cancer Development: An Updated Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moumin FA,
Mohamed AA,
Osman AA,
Cai J</span><br />
<span class="medgenPMjournal">Can J Gastroenterol Hepatol</span>
2020;2020:3578927.
Epub 2020 Feb 21
doi: 10.1155/2020/3578927.
<span class="bold">PMID: </span><a href="/pubmed/32149048" target="_blank">32149048</a><a href="/pmc/articles/PMC7054765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18216481">Orange palpebral spots.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Assouly P,
Cavelier-Balloy B,
Dupré T</span><br />
<span class="medgenPMjournal">Dermatology</span>
2008;216(2):166-70.
Epub 2008 Jan 23
doi: 10.1159/000111516.
<span class="bold">PMID: </span><a href="/pubmed/18216481" target="_blank">18216481</a></div>
<div class="nl"><a target="_blank" href="/pubmed/13840594">Clinical observations regarding xanthelasma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">VACCA JB,
KNIGHT WA Jr,
BROUN GO Sr</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
1959 Nov;51:1019-31.
doi: 10.7326/0003-4819-51-5-1019.
<span class="bold">PMID: </span><a href="/pubmed/13840594" target="_blank">13840594</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xanthelasma%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 (62)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36565218">Adverse reactions to the injection of face and neck aesthetic filling materials: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Machado RA,
Oliveira LQ,
Martelli-Júnior H,
Pires FR,
Carvas JB,
Rogerio VE,
Rabelo VD,
Coletta RD</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2023 May 1;28(3):e278-e284.
doi: 10.4317/medoral.25713.
<span class="bold">PMID: </span><a href="/pubmed/36565218" target="_blank">36565218</a><a href="/pmc/articles/PMC10181027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35554519">The association of xanthelasma palpebrum with cardiovascular events: systematic review with meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lousa R,
Alves M,
Mota C,
Brito D,
Almeida AG,
Pinto FJ,
Caldeira D</span><br />
<span class="medgenPMjournal">Eur J Prev Cardiol</span>
2022 Oct 18;29(13):1740-1743.
doi: 10.1093/eurjpc/zwac070.
<span class="bold">PMID: </span><a href="/pubmed/35554519" target="_blank">35554519</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34666405">Delayed Complications following Dermal Filler for Tear Trough Augmentation: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trinh LN,
McGuigan KC,
Gupta A</span><br />
<span class="medgenPMjournal">Facial Plast Surg</span>
2022 Jun;38(3):250-259.
Epub 2021 Oct 19
doi: 10.1055/s-0041-1736390.
<span class="bold">PMID: </span><a href="/pubmed/34666405" target="_blank">34666405</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31499151">Serum lipids and risk of atherosclerosis in xanthelasma palpebrarum: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chang HC,
Sung CW,
Lin MH</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2020 Mar;82(3):596-605.
Epub 2019 Sep 6
doi: 10.1016/j.jaad.2019.08.082.
<span class="bold">PMID: </span><a href="/pubmed/31499151" target="_blank">31499151</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28181222">Systematic review of laser therapy in xanthelasma palpebrarum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen AH,
Vaudreuil AM,
Huerter CJ</span><br />
<span class="medgenPMjournal">Int J Dermatol</span>
2017 Mar;56(3):e47-e55.
doi: 10.1111/ijd.13534.
<span class="bold">PMID: </span><a href="/pubmed/28181222" target="_blank">28181222</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Xanthelasma%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 (5)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22xanthelasma%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Xanthelasma%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Xanthelasma" target="_blank">MedlinePlus</a></li></ul></div>
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