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<meta name="keywords" content="C0018920, cavernoma, cavernous angioma, cavernous haemangioma, cavernous hemangioma, cavernous hemangioma (morphologic abnormality), cavernous hemangiomas, cavernous nevus, collection of dilated blood vessels that forms mass, hemangioma, cavernous, hemangioma, strawberry, hemangiomas, cavernous, hemangiomas, strawberry, neoplastic process, strawberry hemangioma, strawberry hemangiomas, 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 a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Cavernous hemangioma (Concept Id: C0018920)
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<!--
UID=9184
ConceptID=C0018920
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cavernous hemangioma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9184</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.">C0018920</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Cavernous Hemangioma; Cavernous Hemangiomas; Hemangioma, Cavernous; Hemangioma, Strawberry; Hemangiomas, Cavernous; Hemangiomas, Strawberry; Strawberry Hemangioma; Strawberry Hemangiomas</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Cavernous hemangioma (416824008); Cavernous nevus (416824008); Strawberry hemangioma (56975005); Cavernous hemangioma (33377007)</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:0001048">HP:0001048</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0003155" target="_blank">MONDO:0003155</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0018920[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=9184">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=9184" ref="ncbi_uid=9184">V</a></span></span><span class="TLline">Cavernous hemangioma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/235364" ref="tree=MeSH" title="MedGen record for Neoplasm by Special Category">Neoplasm by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/39483" ref="tree=MeSH" title="MedGen record for Benign neoplasm">Benign neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/83866" ref="tree=MeSH" title="MedGen record for Benign connective and soft tissue neoplasm">Benign connective and soft tissue neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/235124" ref="tree=MeSH" title="MedGen record for Benign vascular tumor">Benign vascular tumor</a></span><ul><li><span class="TLline"><a href="/medgen/195779" ref="tree=MeSH" title="MedGen record for Benign blood vessel neoplasm">Benign blood vessel neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/5477" ref="tree=MeSH" title="MedGen record for Hemangioma">Hemangioma</a></span><ul><li><span class="matched_ds">Cavernous hemangioma</span><ul><li><span class="TLline"><a href="/medgen/310589" ref="tree=MeSH" title="MedGen record for Cardiac Cavernous Hemangioma">Cardiac Cavernous Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/232084" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of colon">Cavernous hemangioma of colon</a></span></li><li><span class="TLline"><a href="/medgen/138059" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of orbit">Cavernous hemangioma of orbit</a></span></li><li><span class="TLline"><a href="/medgen/152678" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of retina">Cavernous hemangioma of retina</a></span></li><li><span class="TLline"><a href="/medgen/234097" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of the face">Cavernous hemangioma of the face</a></span></li><li><span class="TLline"><a href="/medgen/199825" ref="tree=MeSH" title="MedGen record for Central Nervous System Cavernous Hemangioma">Central Nervous System Cavernous Hemangioma</a></span><ul><li><span class="TLline"><a href="/medgen/232659" ref="tree=MeSH" title="MedGen record for Intracranial cavernous angioma">Intracranial cavernous angioma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272670" ref="tree=MeSH" title="MedGen record for Giant hemangioma">Giant hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/482990" ref="tree=MeSH" title="MedGen record for Liver cavernous hemangioma">Liver cavernous hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/313709" ref="tree=MeSH" title="MedGen record for Skin Cavernous Hemangioma">Skin Cavernous Hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1668115" ref="tree=MeSH" title="MedGen record for Thyroid Gland Cavernous Hemangioma">Thyroid Gland Cavernous Hemangioma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_266149"><div><strong>Cardio-facio-cutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266149</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.">C1275081</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/266149">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331098"><div><strong>Hemangiomas of small intestine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331098</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.">C1841654</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A hemangioma that involves the small intestine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331098">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_435914"><div><strong>Mucolipidosis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435914</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.">C2673377</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/435914">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863407"><div><strong>Adams-Oliver syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863407</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.">C4014970</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).&#13; For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863407">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840915"><div><strong>Lymphatic malformation 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840915</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.">C5830279</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018).&#13; For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840915">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardio-facio-cutaneous syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemangiomas of small intestine</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucolipidosis type II</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></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/36717293">Mediastinal cavernous hemangioma with concurrent primary lung adenocarcinoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
Li J,
Wang J</span><br />
<span class="medgenPMjournal">Pulmonology</span>
2023 Sep-Oct;29(5):446-447.
Epub 2023 Jan 28
doi: 10.1016/j.pulmoe.2022.12.002.
<span class="bold">PMID: </span><a href="/pubmed/36717293" target="_blank">36717293</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27841223">Extracranial temporal cavernous hemangioma: Differential diagnosis, and a review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Turel MK,
Kiehl TR,
Gentili F</span><br />
<span class="medgenPMjournal">Neurol India</span>
2016 Nov-Dec;64(6):1347-1351.
doi: 10.4103/0028-3886.193800.
<span class="bold">PMID: </span><a href="/pubmed/27841223" target="_blank">27841223</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8364292">Treatment of cavernous hemangioma with vincristine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boehm DK,
Kobrinsky NL</span><br />
<span class="medgenPMjournal">Ann Pharmacother</span>
1993 Jul-Aug;27(7-8):981.
doi: 10.1177/106002809302700735.
<span class="bold">PMID: </span><a href="/pubmed/8364292" target="_blank">8364292</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cavernous%20hemangioma%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 (33)</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/36690143">Vascular Malformations: A Histopathologic and Conceptual Appraisal.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez-Flores A,
Cassarino D,
Colmenero I</span><br />
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
2023 Mar;114(3):T213-T228.
Epub 2023 Jan 20
doi: 10.1016/j.ad.2022.10.039.
<span class="bold">PMID: </span><a href="/pubmed/36690143" target="_blank">36690143</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36309042">Vascular Malformations: A Histopathologic and Conceptual Appraisal.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez-Flores A,
Cassarino D,
Colmenero I</span><br />
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
2023 Mar;114(3):213-228.
Epub 2022 Oct 26
doi: 10.1016/j.ad.2022.10.035.
<span class="bold">PMID: </span><a href="/pubmed/36309042" target="_blank">36309042</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35074077">Cavernous malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ganz JC</span><br />
<span class="medgenPMjournal">Prog Brain Res</span>
2022;268(1):115-132.
Epub 2022 Jan 6
doi: 10.1016/bs.pbr.2021.10.029.
<span class="bold">PMID: </span><a href="/pubmed/35074077" target="_blank">35074077</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31096254">Leksell Stereotactic Radiosurgery for Cavernous Malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lunsford LD,
Niranjan A,
Kano H,
Monaco Iii EA,
Flickinger JC</span><br />
<span class="medgenPMjournal">Prog Neurol Surg</span>
2019;34:260-266.
Epub 2019 May 16
doi: 10.1159/000493072.
<span class="bold">PMID: </span><a href="/pubmed/31096254" target="_blank">31096254</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29046973">Clinical Management of Cavernous Malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flemming KD</span><br />
<span class="medgenPMjournal">Curr Cardiol Rep</span>
2017 Oct 18;19(12):122.
doi: 10.1007/s11886-017-0931-1.
<span class="bold">PMID: </span><a href="/pubmed/29046973" target="_blank">29046973</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cavernous%20hemangioma%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 (1498)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36229132">Cavernous Malformations: Updates in Surgical Management and Biology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dammann P,
Santos AN,
Wan XY,
Zhu Y,
Sure U</span><br />
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
2022 Oct;33(4):449-460.
Epub 2022 Sep 11
doi: 10.1016/j.nec.2022.05.001.
<span class="bold">PMID: </span><a href="/pubmed/36229132" target="_blank">36229132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26398050">Retinal Cavernous Hemangioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bloch E,
Hakim J</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2015 Oct;122(10):2037.
doi: 10.1016/j.ophtha.2015.07.006.
<span class="bold">PMID: </span><a href="/pubmed/26398050" target="_blank">26398050</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26098013">Cerebral cavernous malformations: natural history and clinical management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gross BA,
Du R</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2015;15(7):771-7.
Epub 2015 Jun 22
doi: 10.1586/14737175.2015.1055323.
<span class="bold">PMID: </span><a href="/pubmed/26098013" target="_blank">26098013</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22502911">Characteristics of cavernomas of the brain and spine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kivelev J,
Niemelä M,
Hernesniemi J</span><br />
<span class="medgenPMjournal">J Clin Neurosci</span>
2012 May;19(5):643-8.
doi: 10.1016/j.jocn.2011.08.024.
<span class="bold">PMID: </span><a href="/pubmed/22502911" target="_blank">22502911</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20827863">Cavernous malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giannotta SL,
Barrow DL</span><br />
<span class="medgenPMjournal">Neurosurg Focus</span>
2010 Sep;29(3):Introduction.
doi: 10.3171/2010.9.focus.intro.
<span class="bold">PMID: </span><a href="/pubmed/20827863" target="_blank">20827863</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cavernous%20hemangioma%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 (3212)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/31637968">Nontraumatic Pediatric Intracerebral Hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boulouis G,
Blauwblomme T,
Hak JF,
Benichi S,
Kirton A,
Meyer P,
Chevignard M,
Tournier-Lasserve E,
Mackay MT,
Chabrier S,
Cordonnier C,
Kossorotoff M,
Naggara O</span><br />
<span class="medgenPMjournal">Stroke</span>
2019 Dec;50(12):3654-3661.
Epub 2019 Oct 22
doi: 10.1161/STROKEAHA.119.025783.
<span class="bold">PMID: </span><a href="/pubmed/31637968" target="_blank">31637968</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30909834">Familial Cerebral Cavernous Malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zafar A,
Quadri SA,
Farooqui M,
Ikram A,
Robinson M,
Hart BL,
Mabray MC,
Vigil C,
Tang AT,
Kahn ML,
Yonas H,
Lawton MT,
Kim H,
Morrison L</span><br />
<span class="medgenPMjournal">Stroke</span>
2019 May;50(5):1294-1301.
doi: 10.1161/STROKEAHA.118.022314.
<span class="bold">PMID: </span><a href="/pubmed/30909834" target="_blank">30909834</a><a href="/pmc/articles/PMC6924279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29046973">Clinical Management of Cavernous Malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flemming KD</span><br />
<span class="medgenPMjournal">Curr Cardiol Rep</span>
2017 Oct 18;19(12):122.
doi: 10.1007/s11886-017-0931-1.
<span class="bold">PMID: </span><a href="/pubmed/29046973" target="_blank">29046973</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2261175">Lateral orbitotomy--a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McNab AA,
Wright JE</span><br />
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
1990 Aug;18(3):281-6.
<span class="bold">PMID: </span><a href="/pubmed/2261175" target="_blank">2261175</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4873079">Methotrexate in dermatology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Burrows D,
Shanks RG,
Stevenson CJ</span><br />
<span class="medgenPMjournal">Br J Dermatol</span>
1968 May;80(5):348-52.
doi: 10.1111/j.1365-2133.1968.tb12317.x.
<span class="bold">PMID: </span><a href="/pubmed/4873079" target="_blank">4873079</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cavernous%20hemangioma%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 (585)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28552146">Epidemiology of cavernous malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein HE,
Solomon RA</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2017;143:241-247.
doi: 10.1016/B978-0-444-63640-9.00023-0.
<span class="bold">PMID: </span><a href="/pubmed/28552146" target="_blank">28552146</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27072991">Pendulous hepatic hemangioma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ibáñez VM,
Zamora AS,
Morote SC,
Crespo ML,
Rodríguez EF,
Soria JE</span><br />
<span class="medgenPMjournal">Surgery</span>
2017 Jun;161(6):1735-1736.
Epub 2016 Apr 9
doi: 10.1016/j.surg.2016.02.036.
<span class="bold">PMID: </span><a href="/pubmed/27072991" target="_blank">27072991</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22161554">Ultrasound in portal hypertension--part 1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Berzigotti A,
Piscaglia F</span><br />
<span class="medgenPMjournal">Ultraschall Med</span>
2011 Dec;32(6):548-68; quiz 569-71.
Epub 2011 Dec 9
doi: 10.1055/s-0031-1281856.
<span class="bold">PMID: </span><a href="/pubmed/22161554" target="_blank">22161554</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10783555">Intramedullary cavernous malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chabert E,
Morandi X,
Carney MP,
Riffaud L,
Louail C,
Carsin-Nicol B</span><br />
<span class="medgenPMjournal">J Neuroradiol</span>
1999 Dec;26(4):262-8.
<span class="bold">PMID: </span><a href="/pubmed/10783555" target="_blank">10783555</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8295987">Radiation therapy in the unresectable cavernous hemangioma of the liver.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gaspar L,
Mascarenhas F,
da Costa MS,
Dias JS,
Afonso JG,
Silvestre ME</span><br />
<span class="medgenPMjournal">Radiother Oncol</span>
1993 Oct;29(1):45-50.
doi: 10.1016/0167-8140(93)90172-5.
<span class="bold">PMID: </span><a href="/pubmed/8295987" target="_blank">8295987</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cavernous%20hemangioma%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 (1089)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34892032">Radiomics-based Prediction of Re-hemorrhage in Cerebral Cavernous Malformation after Gamma Knife Radiosurgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuo PH,
Lee CC,
Lu CF</span><br />
<span class="medgenPMjournal">Annu Int Conf IEEE Eng Med Biol Soc</span>
2021 Nov;2021:3668-3671.
doi: 10.1109/EMBC46164.2021.9629762.
<span class="bold">PMID: </span><a href="/pubmed/34892032" target="_blank">34892032</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27320373">Brainstem cavernous malformations: Natural history versus surgical management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walcott BP,
Choudhri O,
Lawton MT</span><br />
<span class="medgenPMjournal">J Clin Neurosci</span>
2016 Oct;32:164-5.
Epub 2016 Jun 16
doi: 10.1016/j.jocn.2016.03.021.
<span class="bold">PMID: </span><a href="/pubmed/27320373" target="_blank">27320373</a><a href="/pmc/articles/PMC5011020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26098013">Cerebral cavernous malformations: natural history and clinical management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gross BA,
Du R</span><br />
<span class="medgenPMjournal">Expert Rev Neurother</span>
2015;15(7):771-7.
Epub 2015 Jun 22
doi: 10.1586/14737175.2015.1055323.
<span class="bold">PMID: </span><a href="/pubmed/26098013" target="_blank">26098013</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19050659">Symptomatic brainstem cavernomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hauck EF,
Barnett SL,
White JA,
Samson D</span><br />
<span class="medgenPMjournal">Neurosurgery</span>
2009 Jan;64(1):61-70; discussion 70-1.
doi: 10.1227/01.NEU.0000335158.11692.53.
<span class="bold">PMID: </span><a href="/pubmed/19050659" target="_blank">19050659</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8295987">Radiation therapy in the unresectable cavernous hemangioma of the liver.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gaspar L,
Mascarenhas F,
da Costa MS,
Dias JS,
Afonso JG,
Silvestre ME</span><br />
<span class="medgenPMjournal">Radiother Oncol</span>
1993 Oct;29(1):45-50.
doi: 10.1016/0167-8140(93)90172-5.
<span class="bold">PMID: </span><a href="/pubmed/8295987" target="_blank">8295987</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cavernous%20hemangioma%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 (875)</a></div></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tos SM,
Shaaban A,
Mantziaris G,
Dumot C,
Kotecha R,
Fariselli L,
Gorgulho A,
Levivier M,
Ma L,
Paddick I,
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Regis J,
Suh JH,
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Sahgal A,
Sheehan JP</span><br />
<span class="medgenPMjournal">World Neurosurg</span>
2024 Dec;192:e366-e401.
Epub 2024 Oct 18
doi: 10.1016/j.wneu.2024.09.106.
<span class="bold">PMID: </span><a href="/pubmed/39341276" target="_blank">39341276</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35705835">A Comprehensive Review of Hepatic Hemangioma Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz H,
Brown ZJ,
Baghdadi A,
Kamel IR,
Pawlik TM</span><br />
<span class="medgenPMjournal">J Gastrointest Surg</span>
2022 Sep;26(9):1998-2007.
Epub 2022 Jun 15
doi: 10.1007/s11605-022-05382-1.
<span class="bold">PMID: </span><a href="/pubmed/35705835" target="_blank">35705835</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28387823">Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Akers A,
Al-Shahi Salman R,
A Awad I,
Dahlem K,
Flemming K,
Hart B,
Kim H,
Jusue-Torres I,
Kondziolka D,
Lee C,
Morrison L,
Rigamonti D,
Rebeiz T,
Tournier-Lasserve E,
Waggoner D,
Whitehead K</span><br />
<span class="medgenPMjournal">Neurosurgery</span>
2017 May 1;80(5):665-680.
doi: 10.1093/neuros/nyx091.
<span class="bold">PMID: </span><a href="/pubmed/28387823" target="_blank">28387823</a><a href="/pmc/articles/PMC5808153" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20809764">Emerging clinical imaging techniques for cerebral cavernous malformations: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell PG,
Jabbour P,
Yadla S,
Awad IA</span><br />
<span class="medgenPMjournal">Neurosurg Focus</span>
2010 Sep;29(3):E6.
doi: 10.3171/2010.5.FOCUS10120.
<span class="bold">PMID: </span><a href="/pubmed/20809764" target="_blank">20809764</a><a href="/pmc/articles/PMC3708641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19404127">Brainstem cavernous malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gross BA,
Batjer HH,
Awad IA,
Bendok BR</span><br />
<span class="medgenPMjournal">Neurosurgery</span>
2009 May;64(5):E805-18; discussion E818.
doi: 10.1227/01.NEU.0000343668.44288.18.
<span class="bold">PMID: </span><a href="/pubmed/19404127" target="_blank">19404127</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cavernous%20hemangioma%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 (63)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0018920%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
<li><a href="/gtr/tests?term=C0018920%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
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