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117 KiB
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<meta name="keywords" content="C0027830, benign neurofibroma, multiple neurofibromas, neoplastic process, neurofibroma, neurofibroma (who grade i), neurofibroma, benign, neurofibromas, neurofibromata, neurofibromatosis, nfib, 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="A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=45058
|
||
ConceptID=C0027830
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurofibroma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45058</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Neurofibromas</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Neurofibroma (404029005); Benign neurofibroma (1156930004)</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:0001067">HP:0001067</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016755" target="_blank">MONDO:0016755</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252183">ORPHA252183</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. [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>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C0027830[DISCUI]&test_type=Clinical" ref="ncbi_uid=45058">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&from_uid=45058" ref="ncbi_uid=45058">V</a></span></span><span class="TLline">Neurofibroma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843306" ref="tree=MeSH" title="MedGen record for Benign peripheral nerve sheath tumor">Benign peripheral nerve sheath tumor</a></span><ul><li><span class="matched_ds">Neurofibroma</span><ul><li><span class="TLline"><a href="/medgen/1786129" ref="tree=MeSH" title="MedGen record for Breast Neurofibroma">Breast Neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/275699" ref="tree=MeSH" title="MedGen record for Cellular neurofibroma">Cellular neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/577256" ref="tree=MeSH" title="MedGen record for Cutaneous Neurofibroma">Cutaneous Neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/96598" ref="tree=MeSH" title="MedGen record for Diffuse Neurofibroma">Diffuse Neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/226902" ref="tree=MeSH" title="MedGen record for Epithelioid neurofibroma">Epithelioid neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/277354" ref="tree=MeSH" title="MedGen record for Mediastinum neurofibroma">Mediastinum neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/137790" ref="tree=MeSH" title="MedGen record for Melanotic Neurofibroma">Melanotic Neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/1841620" ref="tree=MeSH" title="MedGen record for Neurofibroma by anatomical location">Neurofibroma by anatomical location</a></span><ul><li><span class="TLline"><a href="/medgen/1841595" ref="tree=MeSH" title="MedGen record for Gastric neurofibroma">Gastric neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/242755" ref="tree=MeSH" title="MedGen record for Neurofibroma of the heart">Neurofibroma of the heart</a></span></li><li><span class="TLline"><a href="/medgen/870537" ref="tree=MeSH" title="MedGen record for Paraspinal neurofibroma">Paraspinal neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/1841909" ref="tree=MeSH" title="MedGen record for Renal neurofibroma">Renal neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/869787" ref="tree=MeSH" title="MedGen record for Spinal neurofibroma">Spinal neurofibroma</a></span><ul><li><span class="TLline"><a href="/medgen/320297" ref="tree=MeSH" title="MedGen record for Symmetric spinal nerve root neurofibromas">Symmetric spinal nerve root neurofibromas</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/741742" ref="tree=MeSH" title="MedGen record for Subcutaneous neurofibroma">Subcutaneous neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/1842086" ref="tree=MeSH" title="MedGen record for Tongue neurofibroma">Tongue neurofibroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232540" ref="tree=MeSH" title="MedGen record for Neurofibroma of gallbladder">Neurofibroma of gallbladder</a></span></li><li><span class="TLline"><a href="/medgen/234804" ref="tree=MeSH" title="MedGen record for Neurofibroma of spinal cord">Neurofibroma of spinal cord</a></span></li><li><span class="TLline"><a href="/medgen/232164" ref="tree=MeSH" title="MedGen record for Neurofibroma of the esophagus">Neurofibroma of the esophagus</a></span></li><li><span class="TLline"><a href="/medgen/1793874" ref="tree=MeSH" title="MedGen record for Neurofibroma with Atypia">Neurofibroma with Atypia</a></span></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span><ul><li><span class="TLline"><a href="/medgen/68621" ref="tree=MeSH" title="MedGen record for Aggravated Neurofibromatosis">Aggravated Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/18013" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 1">Neurofibromatosis, type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1726802" ref="tree=MeSH" title="MedGen record for Chromosome 17q11.2 deletion syndrome, 1.4Mb">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></span></li><li><span class="TLline"><a href="/medgen/1842855" ref="tree=MeSH" title="MedGen record for Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion">Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</a></span></li><li><span class="TLline"><a href="/medgen/1643872" ref="tree=MeSH" title="MedGen record for Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas">Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas</a></span></li><li><span class="TLline"><a href="/medgen/1668269" ref="tree=MeSH" title="MedGen record for Recurrent Neurofibromatosis Type 1">Recurrent Neurofibromatosis Type 1</a></span></li><li><span class="TLline"><a href="/medgen/1656136" ref="tree=MeSH" title="MedGen record for Refractory Neurofibromatosis Type 1">Refractory Neurofibromatosis Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18014" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type 2">Neurofibromatosis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67393" ref="tree=MeSH" title="MedGen record for Neurofibromatosis, type IV, of Riccardi">Neurofibromatosis, type IV, of Riccardi</a></span></li><li><span class="TLline"><a href="/medgen/104927" ref="tree=MeSH" title="MedGen record for Neurofibrosarcoma">Neurofibrosarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/155614" ref="tree=MeSH" title="MedGen record for Malignant peripheral nerve sheath tumor">Malignant peripheral nerve sheath tumor</a></span><ul><li><span class="TLline"><a href="/medgen/75845" ref="tree=MeSH" title="MedGen record for Adult malignant schwannoma">Adult malignant schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/927346" ref="tree=MeSH" title="MedGen record for Cervical Malignant Peripheral Nerve Sheath Tumor">Cervical Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/83582" ref="tree=MeSH" title="MedGen record for Childhood malignant schwannoma">Childhood malignant schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/272104" ref="tree=MeSH" title="MedGen record for Epithelioid malignant peripheral nerve sheath tumor">Epithelioid malignant peripheral nerve sheath tumor</a></span></li><li><span class="TLline"><a href="/medgen/457127" ref="tree=MeSH" title="MedGen record for Esophageal Malignant Peripheral Nerve Sheath Tumor">Esophageal Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/232285" ref="tree=MeSH" title="MedGen record for High Grade Malignant Peripheral Nerve Sheath Tumor">High Grade Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/457128" ref="tree=MeSH" title="MedGen record for Intraocular Malignant Peripheral Nerve Sheath Tumor">Intraocular Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/232702" ref="tree=MeSH" title="MedGen record for Low Grade Malignant Peripheral Nerve Sheath Tumor">Low Grade Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/233146" ref="tree=MeSH" title="MedGen record for Malignant cardiac peripheral nerve sheath neoplasm">Malignant cardiac peripheral nerve sheath neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/232558" ref="tree=MeSH" title="MedGen record for Malignant glandular tumor of peripheral nerve sheath">Malignant glandular tumor of peripheral nerve sheath</a></span></li><li><span class="TLline"><a href="/medgen/99184" ref="tree=MeSH" title="MedGen record for Malignant melanocytic neoplasm of the peripheral nerve sheath">Malignant melanocytic neoplasm of the peripheral nerve sheath</a></span></li><li><span class="TLline"><a href="/medgen/220432" ref="tree=MeSH" title="MedGen record for Malignant perineurioma">Malignant perineurioma</a></span></li><li><span class="TLline"><a href="/medgen/1735957" ref="tree=MeSH" title="MedGen record for Malignant Peripheral Nerve Sheath Tumor of the Skin">Malignant Peripheral Nerve Sheath Tumor of the Skin</a></span></li><li><span class="TLline"><a href="/medgen/457456" ref="tree=MeSH" title="MedGen record for Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation">Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation</a></span></li><li><span class="TLline"><a href="/medgen/90816" ref="tree=MeSH" title="MedGen record for Malignant triton tumor">Malignant triton tumor</a></span></li><li><span class="TLline"><a href="/medgen/235312" ref="tree=MeSH" title="MedGen record for Mediastinal Malignant Peripheral Nerve Sheath Tumor">Mediastinal Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/233182" ref="tree=MeSH" title="MedGen record for Metastatic Malignant Peripheral Nerve Sheath Tumor">Metastatic Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1709893" ref="tree=MeSH" title="MedGen record for NF1-Associated Malignant Peripheral Nerve Sheath Tumor">NF1-Associated Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1696160" ref="tree=MeSH" title="MedGen record for Penile Malignant Peripheral Nerve Sheath Tumor">Penile Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1717779" ref="tree=MeSH" title="MedGen record for Radiation-Induced Malignant Peripheral Nerve Sheath Tumor">Radiation-Induced Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/233396" ref="tree=MeSH" title="MedGen record for Recurrent Malignant Peripheral Nerve Sheath Tumor">Recurrent Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1665858" ref="tree=MeSH" title="MedGen record for Refractory Malignant Peripheral Nerve Sheath Tumor">Refractory Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1753079" ref="tree=MeSH" title="MedGen record for Sinonasal Malignant Peripheral Nerve Sheath Tumor">Sinonasal Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1716654" ref="tree=MeSH" title="MedGen record for Sporadic Malignant Peripheral Nerve Sheath Tumor">Sporadic Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1653931" ref="tree=MeSH" title="MedGen record for Thyroid Gland Malignant Peripheral Nerve Sheath Tumor">Thyroid Gland Malignant Peripheral Nerve Sheath Tumor</a></span></li><li><span class="TLline"><a href="/medgen/1714529" ref="tree=MeSH" title="MedGen record for Unresectable Malignant Peripheral Nerve Sheath Tumor">Unresectable Malignant Peripheral Nerve Sheath Tumor</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/87273" ref="tree=MeSH" title="MedGen record for Pacinian tumor">Pacinian tumor</a></span></li><li><span class="TLline"><a href="/medgen/1685823" ref="tree=MeSH" title="MedGen record for Penile Neurofibroma">Penile Neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/64640" ref="tree=MeSH" title="MedGen record for Plexiform neurofibroma">Plexiform neurofibroma</a></span><ul><li><span class="TLline"><a href="/medgen/1792120" ref="tree=MeSH" title="MedGen record for Unresectable Plexiform Neurofibroma">Unresectable Plexiform Neurofibroma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1744371" ref="tree=MeSH" title="MedGen record for Sinonasal Neurofibroma">Sinonasal Neurofibroma</a></span></li><li><span class="TLline"><a href="/medgen/1686556" ref="tree=MeSH" title="MedGen record for Urinary bladder neurofibroma">Urinary bladder neurofibroma</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19729&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Neurofibroma</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_18014"><div><strong>Neurofibromatosis, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18014</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027832</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and (very rarely) low-grade astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/18014">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_116049"><div><strong>Gastrointestinal stromal tumor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116049</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/116049">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_107817"><div><strong>Café-au-lait macules with pulmonary stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0553586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Watson syndrome (WTSN) is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107817">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_320296"><div><strong>Neurofibromatosis, familial spinal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320296</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/320296">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_370709"><div><strong>Legius syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370709</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1969623</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/370709">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_419089"><div><strong>Neurofibromatosis-Noonan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419089</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419089">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1726802"><div><strong>Chromosome 17q11.2 deletion syndrome, 1.4Mb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1726802</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5401456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1726802">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1841087"><div><strong>Basal cell nevus syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1841087">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal cell nevus syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Café-au-lait macules with pulmonary stenosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1726802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17q11.2 deletion syndrome, 1.4Mb</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal stromal tumor</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Legius syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, familial spinal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis-Noonan syndrome</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/37328781">Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AE,
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Belzberg AJ,
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Crawford JR,
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Hirbe AC,
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Wang ZJ</span><br />
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<span class="medgenPMjournal">BMC Cancer</span>
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2023 Jun 16;23(1):553.
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doi: 10.1186/s12885-023-10996-y.
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<span class="bold">PMID: </span><a href="/pubmed/37328781" target="_blank">37328781</a><a href="/pmc/articles/PMC10273716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31582003">The Diagnosis and Management of Neurofibromatosis Type 1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ly KI,
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Blakeley JO</span><br />
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<span class="medgenPMjournal">Med Clin North Am</span>
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2019 Nov;103(6):1035-1054.
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doi: 10.1016/j.mcna.2019.07.004.
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<span class="bold">PMID: </span><a href="/pubmed/31582003" target="_blank">31582003</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/23931823">Neurofibromatosis type 1 (NF1): diagnosis and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ferner RE,
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Gutmann DH</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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2013;115:939-55.
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doi: 10.1016/B978-0-444-52902-2.00053-9.
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<span class="bold">PMID: </span><a href="/pubmed/23931823" target="_blank">23931823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22neurofibroma%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 (77)</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/38691597">Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarin KY,
|
||
Bradshaw M,
|
||
O'Mara C,
|
||
Shahryari J,
|
||
Kincaid J,
|
||
Kempers S,
|
||
Tu JH,
|
||
Dhawan S,
|
||
DuBois J,
|
||
Wilson D,
|
||
Horwath P,
|
||
de Souza MP,
|
||
Powala C,
|
||
Kochendoerfer GG,
|
||
Plotkin SR,
|
||
Webster GF,
|
||
Le LQ</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2024 May 3;10(18):eadk4946.
|
||
Epub 2024 May 1
|
||
doi: 10.1126/sciadv.adk4946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38691597" target="_blank">38691597</a><a href="/pmc/articles/PMC11062565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37328781">Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AE,
|
||
Belzberg AJ,
|
||
Crawford JR,
|
||
Hirbe AC,
|
||
Wang ZJ</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2023 Jun 16;23(1):553.
|
||
doi: 10.1186/s12885-023-10996-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37328781" target="_blank">37328781</a><a href="/pmc/articles/PMC10273716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35609578">Magnetic Resonance Imaging of Nerve Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behzad B,
|
||
Dianat S</span><br />
|
||
<span class="medgenPMjournal">Semin Musculoskelet Radiol</span>
|
||
2022 Apr;26(2):172-181.
|
||
Epub 2022 May 24
|
||
doi: 10.1055/s-0042-1742704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35609578" target="_blank">35609578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33588442">Diagnostic Pathology of Tumors of Peripheral Nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belakhoua SM,
|
||
Rodriguez FJ</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
2021 Feb 16;88(3):443-456.
|
||
doi: 10.1093/neuros/nyab021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33588442" target="_blank">33588442</a><a href="/pmc/articles/PMC7884141" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7943637">Plexiform schwannoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Megahed M</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
1994 Jun;16(3):288-93.
|
||
doi: 10.1097/00000372-199406000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7943637" target="_blank">7943637</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurofibroma%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 (995)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38198164">Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo YX,
|
||
Wang HX,
|
||
Wang SS,
|
||
Croitoru D,
|
||
Piguet V,
|
||
Gao XH,
|
||
Xu XG</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2024 Mar 1;160(3):366-368.
|
||
doi: 10.1001/jamadermatol.2023.5338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38198164" target="_blank">38198164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34527162">Classical neurofibroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harjpal PL,
|
||
Kovela RK</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2021;39:146.
|
||
Epub 2021 Jun 23
|
||
doi: 10.11604/pamj.2021.39.146.30169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34527162" target="_blank">34527162</a><a href="/pmc/articles/PMC8418172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26503354">Endobronchial neurofibroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivali N,
|
||
Boland JM,
|
||
Ryu JH</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2016 Apr;109(4):273-4.
|
||
Epub 2015 Oct 25
|
||
doi: 10.1093/qjmed/hcv199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26503354" target="_blank">26503354</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21053645">Solitary oral neurofibroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Jornet P,
|
||
Gomez-Garcia E,
|
||
Camacho-Alonso F</span><br />
|
||
<span class="medgenPMjournal">N Y State Dent J</span>
|
||
2010 Aug-Sep;76(5):54-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21053645" target="_blank">21053645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7943637">Plexiform schwannoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Megahed M</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
1994 Jun;16(3):288-93.
|
||
doi: 10.1097/00000372-199406000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7943637" target="_blank">7943637</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurofibroma%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 (2238)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38691597">Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarin KY,
|
||
Bradshaw M,
|
||
O'Mara C,
|
||
Shahryari J,
|
||
Kincaid J,
|
||
Kempers S,
|
||
Tu JH,
|
||
Dhawan S,
|
||
DuBois J,
|
||
Wilson D,
|
||
Horwath P,
|
||
de Souza MP,
|
||
Powala C,
|
||
Kochendoerfer GG,
|
||
Plotkin SR,
|
||
Webster GF,
|
||
Le LQ</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2024 May 3;10(18):eadk4946.
|
||
Epub 2024 May 1
|
||
doi: 10.1126/sciadv.adk4946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38691597" target="_blank">38691597</a><a href="/pmc/articles/PMC11062565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37906356">Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R</span><br />
|
||
<span class="medgenPMjournal">Curr Oncol Rep</span>
|
||
2023 Dec;25(12):1409-1417.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1007/s11912-023-01451-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37906356" target="_blank">37906356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37328781">Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Armstrong AE,
|
||
Belzberg AJ,
|
||
Crawford JR,
|
||
Hirbe AC,
|
||
Wang ZJ</span><br />
|
||
<span class="medgenPMjournal">BMC Cancer</span>
|
||
2023 Jun 16;23(1):553.
|
||
doi: 10.1186/s12885-023-10996-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37328781" target="_blank">37328781</a><a href="/pmc/articles/PMC10273716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32767931">NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui XW,
|
||
Ren JY,
|
||
Gu YH,
|
||
Li QF,
|
||
Wang ZC</span><br />
|
||
<span class="medgenPMjournal">Curr Gene Ther</span>
|
||
2020;20(2):100-108.
|
||
doi: 10.2174/1566523220666200806111451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32767931" target="_blank">32767931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32187457">Selumetinib in Children with Inoperable Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross AM,
|
||
Wolters PL,
|
||
Dombi E,
|
||
Baldwin A,
|
||
Whitcomb P,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Bornhorst M,
|
||
Shah AC,
|
||
Martin S,
|
||
Roderick MC,
|
||
Pichard DC,
|
||
Carbonell A,
|
||
Paul SM,
|
||
Therrien J,
|
||
Kapustina O,
|
||
Heisey K,
|
||
Clapp DW,
|
||
Zhang C,
|
||
Peer CJ,
|
||
Figg WD,
|
||
Smith M,
|
||
Glod J,
|
||
Blakeley JO,
|
||
Steinberg SM,
|
||
Venzon DJ,
|
||
Doyle LA,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Apr 9;382(15):1430-1442.
|
||
Epub 2020 Mar 18
|
||
doi: 10.1056/NEJMoa1912735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32187457" target="_blank">32187457</a><a href="/pmc/articles/PMC7305659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurofibroma%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 (326)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37906356">Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown R</span><br />
|
||
<span class="medgenPMjournal">Curr Oncol Rep</span>
|
||
2023 Dec;25(12):1409-1417.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1007/s11912-023-01451-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37906356" target="_blank">37906356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28647116">Peripheral nerve sheath tumors of the breast.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charu V,
|
||
Cimino-Mathews A</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2017 Sep;34(5):420-426.
|
||
Epub 2017 May 27
|
||
doi: 10.1053/j.semdp.2017.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28647116" target="_blank">28647116</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21053645">Solitary oral neurofibroma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Jornet P,
|
||
Gomez-Garcia E,
|
||
Camacho-Alonso F</span><br />
|
||
<span class="medgenPMjournal">N Y State Dent J</span>
|
||
2010 Aug-Sep;76(5):54-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21053645" target="_blank">21053645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10752112">Malignant spinal neurofibrosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kett-White R,
|
||
Martin JL,
|
||
Jones EW,
|
||
O'Brien C</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2000 Mar 15;25(6):752-5.
|
||
doi: 10.1097/00007632-200003150-00019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10752112" target="_blank">10752112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2126128">Nasal schwannoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasic TR,
|
||
Makielski K</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
1990 Dec;103(6):943-6.
|
||
doi: 10.1177/019459989010300610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2126128" target="_blank">2126128</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurofibroma%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 (670)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38691597">Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarin KY,
|
||
Bradshaw M,
|
||
O'Mara C,
|
||
Shahryari J,
|
||
Kincaid J,
|
||
Kempers S,
|
||
Tu JH,
|
||
Dhawan S,
|
||
DuBois J,
|
||
Wilson D,
|
||
Horwath P,
|
||
de Souza MP,
|
||
Powala C,
|
||
Kochendoerfer GG,
|
||
Plotkin SR,
|
||
Webster GF,
|
||
Le LQ</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2024 May 3;10(18):eadk4946.
|
||
Epub 2024 May 1
|
||
doi: 10.1126/sciadv.adk4946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38691597" target="_blank">38691597</a><a href="/pmc/articles/PMC11062565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32187457">Selumetinib in Children with Inoperable Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross AM,
|
||
Wolters PL,
|
||
Dombi E,
|
||
Baldwin A,
|
||
Whitcomb P,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Bornhorst M,
|
||
Shah AC,
|
||
Martin S,
|
||
Roderick MC,
|
||
Pichard DC,
|
||
Carbonell A,
|
||
Paul SM,
|
||
Therrien J,
|
||
Kapustina O,
|
||
Heisey K,
|
||
Clapp DW,
|
||
Zhang C,
|
||
Peer CJ,
|
||
Figg WD,
|
||
Smith M,
|
||
Glod J,
|
||
Blakeley JO,
|
||
Steinberg SM,
|
||
Venzon DJ,
|
||
Doyle LA,
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||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Apr 9;382(15):1430-1442.
|
||
Epub 2020 Mar 18
|
||
doi: 10.1056/NEJMoa1912735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32187457" target="_blank">32187457</a><a href="/pmc/articles/PMC7305659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28551330">Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miettinen MM,
|
||
Antonescu CR,
|
||
Fletcher CDM,
|
||
Kim A,
|
||
Lazar AJ,
|
||
Quezado MM,
|
||
Reilly KM,
|
||
Stemmer-Rachamimov A,
|
||
Stewart DR,
|
||
Viskochil D,
|
||
Widemann B,
|
||
Perry A</span><br />
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||
<span class="medgenPMjournal">Hum Pathol</span>
|
||
2017 Sep;67:1-10.
|
||
Epub 2017 May 24
|
||
doi: 10.1016/j.humpath.2017.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28551330" target="_blank">28551330</a><a href="/pmc/articles/PMC5628119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28029918">Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dombi E,
|
||
Baldwin A,
|
||
Marcus LJ,
|
||
Fisher MJ,
|
||
Weiss B,
|
||
Kim A,
|
||
Whitcomb P,
|
||
Martin S,
|
||
Aschbacher-Smith LE,
|
||
Rizvi TA,
|
||
Wu J,
|
||
Ershler R,
|
||
Wolters P,
|
||
Therrien J,
|
||
Glod J,
|
||
Belasco JB,
|
||
Schorry E,
|
||
Brofferio A,
|
||
Starosta AJ,
|
||
Gillespie A,
|
||
Doyle AL,
|
||
Ratner N,
|
||
Widemann BC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2016 Dec 29;375(26):2550-2560.
|
||
doi: 10.1056/NEJMoa1605943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28029918" target="_blank">28029918</a><a href="/pmc/articles/PMC5508592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15923807">Radiotherapy and radiosurgery for benign neurofibromas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chopra R,
|
||
Morris CG,
|
||
Friedman WA,
|
||
Mendenhall WM</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Oncol</span>
|
||
2005 Jun;28(3):317-20.
|
||
doi: 10.1097/01.coc.0000156923.52181.3d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15923807" target="_blank">15923807</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurofibroma%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 (639)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/38502338">Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han Y,
|
||
Li B,
|
||
Yu X,
|
||
Liu J,
|
||
Zhao W,
|
||
Zhang D,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 May;271(5):2379-2389.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1007/s00415-024-12301-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38502338" target="_blank">38502338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35759947">A Systematic Review of Recent and Ongoing Clinical Trials in Patients With the Neurofibromatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acar S,
|
||
Nieblas-Bedolla E,
|
||
Armstrong AE,
|
||
Hirbe AC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 Sep;134:1-6.
|
||
Epub 2022 Jun 10
|
||
doi: 10.1016/j.pediatrneurol.2022.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35759947" target="_blank">35759947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34739882">Multidisciplinary approach for repair of a large ventral thoracic meningocele in neurofibromatosis-1; a systematic review of the literature and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehner K,
|
||
Lubelski D,
|
||
Witham T,
|
||
Luciano M,
|
||
Tuffaha S,
|
||
Yang R,
|
||
Yang S,
|
||
Belzberg A</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Nov;210:106996.
|
||
Epub 2021 Oct 22
|
||
doi: 10.1016/j.clineuro.2021.106996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34739882" target="_blank">34739882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31156019">Pacinian neuromas and neurofibromas of the hands and fingers: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fassola I,
|
||
Wenzke L,
|
||
Ertel W,
|
||
Krasnici S</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2019 Nov;44(9):925-931.
|
||
Epub 2019 Jun 2
|
||
doi: 10.1177/1753193419852118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31156019" target="_blank">31156019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31149956">Zebras in Foreskin Dermatopathology: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alhatem A,
|
||
Patel N,
|
||
Lambert WC,
|
||
Heller DS</span><br />
|
||
<span class="medgenPMjournal">J Low Genit Tract Dis</span>
|
||
2019 Jul;23(3):235-240.
|
||
doi: 10.1097/LGT.0000000000000478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31149956" target="_blank">31149956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurofibroma%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 (19)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0027830%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027830%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0027830%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=252183" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurofibroma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(%22neurofibroma%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(%22Neurofibroma%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&query=Neurofibroma" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7191/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<a href="/pubmed/clinical?term=Neurofibroma" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Neurofibroma%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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||
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=45058" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0027830[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0027830[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=45058" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=45058" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=45058" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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<h3>Recent activity</h3>
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
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<div class="row">
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<li>
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||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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||
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
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||
</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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