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<!--
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||
UID=396266
|
||
ConceptID=C1861975
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cafe au lait spots, multiple</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396266</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.">C1861975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Neurofibromatosis type 6</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Multiple café-au-lait syndrome (1208340009); NF6 - neurofibromatosis type 6 (1208340009); Neurofibromatosis type 6 (1208340009); Familial café-au-lait spots (1208340009); Multiple café-au-lait spots (1208340009); Familial CALMs (café-au-lait macules) isolated (1208340009); Familial isolated café-au-lait spots (1208340009); Familial isolated café-au-lait macules (1208340009)</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:0007565">HP:0007565</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007245" target="_blank">MONDO:0007245</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/114030" target="_blank">114030</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">The presence of six or more cafe-au-lait spots. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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|
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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=C1861975[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=396266">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=396266" target="_blank" href="/omim/114030">O</a></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=396266" ref="ncbi_uid=396266">V</a></span></span><span class="TLline">Cafe au lait spots, multiple</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/107500" ref="tree=MeSH" title="MedGen record for Disorder of pigmentation">Disorder of pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/113157" ref="tree=MeSH" title="MedGen record for Cafe-au-lait spot">Cafe-au-lait spot</a></span><ul><li><span class="matched_ds">Cafe au lait spots, multiple</span></li></ul></li></ul></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=2446&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Cafe au lait spots, multiple</span> in Orphanet.</div></div></div>
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||
</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_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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107817">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323015"><div><strong>Fanconi anemia complementation group J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323015</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.">C1836860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323015">Condition Record</a></div></div>
|
||
<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."><span class="highlight" style="background-color:">C2931482</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419089">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854017"><div><strong>Fanconi anemia complementation group G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854017</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.">C3469527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934739"><div><strong>Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934739</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.">C4310772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RERE-related disorders are characterized by neurodevelopmental problems with or without structural anomalies of the eyes, heart, kidneys, and genitourinary tract and mild sensorineural hearing loss. Hypotonia and feeding problems are common among affected individuals. Developmental delay and intellectual disability range from mild to profound. Behavior problems may include attention-deficit/hyperactivity disorder, self-injurious behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's anomaly) and vision issues (myopia, anisometropia, astigmatism, exotropia, esotropia) have been reported. Congenital heart defects, most commonly septal defects, have also been described. Genitourinary abnormalities include vesicoureteral reflux, and cryptorchidism and hypospadias in males. Sensorineural hearing loss can be unilateral or bilateral.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934739">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748029"><div><strong>Mismatch repair cancer syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748029</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.">C5399763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748029">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750327"><div><strong>Mismatch repair cancer syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750327</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.">C5436806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750327">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1733656"><div><strong>Mismatch repair cancer syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1733656</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.">C5436807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1733656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1745382"><div><strong>Mismatch repair cancer syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745382</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.">C5436817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1745382">Condition Record</a></div></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group J</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1733656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1745382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</a></div>
|
||
<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>
|
||
<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>
|
||
</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/26056819">Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Tong H,
|
||
Fu X,
|
||
Zhang Y,
|
||
Liu J,
|
||
Cheng R,
|
||
Liang J,
|
||
Peng J,
|
||
Sun Z,
|
||
Liu H,
|
||
Zhang F,
|
||
Lu W,
|
||
Li M,
|
||
Yao Z</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2015 Jun 9;5:11291.
|
||
doi: 10.1038/srep11291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26056819" target="_blank">26056819</a><a href="/pmc/articles/PMC4460887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19687427">Diagnostic and management considerations posed by multiple café au lait spots.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riccardi VM</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2009 Aug;145(8):929-30.
|
||
doi: 10.1001/archdermatol.2009.180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19687427" target="_blank">19687427</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cafe%20au%20lait%20spots%2C%20multiple%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 (2)</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/31573083">Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castellanos E,
|
||
Rosas I,
|
||
Negro A,
|
||
Gel B,
|
||
Alibés A,
|
||
Baena N,
|
||
Pineda M,
|
||
Pi G,
|
||
Pintos G,
|
||
Salvador H,
|
||
Lázaro C,
|
||
Blanco I,
|
||
Vilageliu L,
|
||
Brems H,
|
||
Grinberg D,
|
||
Legius E,
|
||
Serra E</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Feb;97(2):264-275.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1111/cge.13649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31573083" target="_blank">31573083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30680470">Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiu C,
|
||
Loth S,
|
||
Kuhlen M,
|
||
Ginzel S,
|
||
Schaper J,
|
||
Rosenbaum T,
|
||
Pietsch T,
|
||
Borkhardt A,
|
||
Hoell JI</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2019 Jul;18(3):353-358.
|
||
doi: 10.1007/s10689-019-00121-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30680470" target="_blank">30680470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27666661">Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li M,
|
||
Yao Z</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2016 Nov;14(5):4023-4029.
|
||
Epub 2016 Sep 22
|
||
doi: 10.3892/mmr.2016.5760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27666661" target="_blank">27666661</a><a href="/pmc/articles/PMC5112360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27469520">Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">St John J,
|
||
Summe H,
|
||
Csikesz C,
|
||
Wiss K,
|
||
Hay B,
|
||
Belazarian L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Sep;33(5):526-9.
|
||
Epub 2016 Jul 28
|
||
doi: 10.1111/pde.12936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27469520" target="_blank">27469520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10220149">A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters H,
|
||
Hess D,
|
||
Fahsold R,
|
||
Schülke M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
1999;13(4):337.
|
||
doi: 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu12>3.0.co;2-f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10220149" target="_blank">10220149</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cafe%20au%20lait%20spots%2C%20multiple%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28371884">Neurofibromatosis type 1 and disseminated malignant peripheral nerve sheath tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pannu AK,
|
||
Sharma N</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2017 Sep 1;110(9):583-584.
|
||
doi: 10.1093/qjmed/hcx071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28371884" target="_blank">28371884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27666661">Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Li M,
|
||
Yao Z</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2016 Nov;14(5):4023-4029.
|
||
Epub 2016 Sep 22
|
||
doi: 10.3892/mmr.2016.5760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27666661" target="_blank">27666661</a><a href="/pmc/articles/PMC5112360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27469520">Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">St John J,
|
||
Summe H,
|
||
Csikesz C,
|
||
Wiss K,
|
||
Hay B,
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||
Belazarian L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Sep;33(5):526-9.
|
||
Epub 2016 Jul 28
|
||
doi: 10.1111/pde.12936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27469520" target="_blank">27469520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24311457">Multiple café au lait spots in familial patients with MAP2K2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takenouchi T,
|
||
Shimizu A,
|
||
Torii C,
|
||
Kosaki R,
|
||
Takahashi T,
|
||
Saya H,
|
||
Kosaki K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Feb;164A(2):392-6.
|
||
Epub 2013 Dec 5
|
||
doi: 10.1002/ajmg.a.36288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24311457" target="_blank">24311457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21593660">Unknown case: Low back pain in a patient with café au lait spots.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flavin K,
|
||
Mitra R</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2011 Jun;36(13):1069.
|
||
doi: 10.1097/BRS.0b013e3181d0cb5a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21593660" target="_blank">21593660</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cafe%20au%20lait%20spots%2C%20multiple%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28371884">Neurofibromatosis type 1 and disseminated malignant peripheral nerve sheath tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pannu AK,
|
||
Sharma N</span><br />
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||
<span class="medgenPMjournal">QJM</span>
|
||
2017 Sep 1;110(9):583-584.
|
||
doi: 10.1093/qjmed/hcx071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28371884" target="_blank">28371884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26531733">Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waheed W,
|
||
Nathan MH,
|
||
Allen GB,
|
||
Borden NM,
|
||
Babi MA,
|
||
Tandan R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Nov 3;2015
|
||
doi: 10.1136/bcr-2015-210816.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26531733" target="_blank">26531733</a><a href="/pmc/articles/PMC4654154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cafe%20au%20lait%20spots%2C%20multiple%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31573083">Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castellanos E,
|
||
Rosas I,
|
||
Negro A,
|
||
Gel B,
|
||
Alibés A,
|
||
Baena N,
|
||
Pineda M,
|
||
Pi G,
|
||
Pintos G,
|
||
Salvador H,
|
||
Lázaro C,
|
||
Blanco I,
|
||
Vilageliu L,
|
||
Brems H,
|
||
Grinberg D,
|
||
Legius E,
|
||
Serra E</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Feb;97(2):264-275.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1111/cge.13649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31573083" target="_blank">31573083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30680470">Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiu C,
|
||
Loth S,
|
||
Kuhlen M,
|
||
Ginzel S,
|
||
Schaper J,
|
||
Rosenbaum T,
|
||
Pietsch T,
|
||
Borkhardt A,
|
||
Hoell JI</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2019 Jul;18(3):353-358.
|
||
doi: 10.1007/s10689-019-00121-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30680470" target="_blank">30680470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26458495">Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao R,
|
||
Wang L,
|
||
Yu Y,
|
||
Wang J,
|
||
Shen Y</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2016 May;43(5):537-42.
|
||
Epub 2015 Oct 13
|
||
doi: 10.1111/1346-8138.13169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26458495" target="_blank">26458495</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cafe%20au%20lait%20spots%2C%20multiple%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26458495">Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao R,
|
||
Wang L,
|
||
Yu Y,
|
||
Wang J,
|
||
Shen Y</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2016 May;43(5):537-42.
|
||
Epub 2015 Oct 13
|
||
doi: 10.1111/1346-8138.13169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26458495" target="_blank">26458495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24311457">Multiple café au lait spots in familial patients with MAP2K2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takenouchi T,
|
||
Shimizu A,
|
||
Torii C,
|
||
Kosaki R,
|
||
Takahashi T,
|
||
Saya H,
|
||
Kosaki K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Feb;164A(2):392-6.
|
||
Epub 2013 Dec 5
|
||
doi: 10.1002/ajmg.a.36288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24311457" target="_blank">24311457</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cafe%20au%20lait%20spots%2C%20multiple%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1861975%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1861975%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1861975%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=114030" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cafe%20au%20lait%20spots,%20multiple" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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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=(%22cafe%20au%20lait%20spots%2C%20multiple%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(%22Cafe%20au%20lait%20spots%2C%20multiple%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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=114030" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cafe_au_lait_spots_multiple_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cafe%20au%20lait%20spots,%20multiple" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3967/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Cafe%20au%20lait%20spots,%20multiple" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cafe%20au%20lait%20spots,%20multiple%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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</li>
|
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<div class="portlet brieflink">
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=396266" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1861975[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1861975[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=396266" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=396266" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=396266" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=396266" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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