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<meta name="keywords" content="C1834297, finding, freckles in groin region, inguinal freckling, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=320315
|
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ConceptID=C1834297
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inguinal freckling</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320315</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.">C1834297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Freckles in groin region</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:0030052">HP:0030052</a></td></tr>
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</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 in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [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>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Inguinal freckling</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/224697" ref="tree=MeSH" title="MedGen record for Abnormality of skin pigmentation">Abnormality of skin pigmentation</a></span><ul><li><span class="TLline"><a href="/medgen/5272" ref="tree=MeSH" title="MedGen record for Freckling">Freckling</a></span><ul><li><span class="matched_ds">Inguinal freckling</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_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_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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18014">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_370709"><div><strong>Legius syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370709</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1969623</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370709">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_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>
|
||
<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_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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1726802">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_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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Legius syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_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_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>
|
||
<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></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/37073110">Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gjorgjievska M,
|
||
Bozhinovski G,
|
||
Sukarova-Angelovska E,
|
||
Kocova M,
|
||
Kanzoska LM,
|
||
Plaseska-Karanfilska D</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2023 Jul 12;40(4):252-261.
|
||
Epub 2023 Apr 19
|
||
doi: 10.4274/balkanmedj.galenos.2023.2022-12-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37073110" target="_blank">37073110</a><a href="/pmc/articles/PMC10339848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34418705">Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ece Solmaz A,
|
||
Isik E,
|
||
Atik T,
|
||
Ozkinay F,
|
||
Onay H</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Sep;208:106884.
|
||
Epub 2021 Aug 12
|
||
doi: 10.1016/j.clineuro.2021.106884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34418705" target="_blank">34418705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22inguinal%20freckling%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/37073110">Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gjorgjievska M,
|
||
Bozhinovski G,
|
||
Sukarova-Angelovska E,
|
||
Kocova M,
|
||
Kanzoska LM,
|
||
Plaseska-Karanfilska D</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2023 Jul 12;40(4):252-261.
|
||
Epub 2023 Apr 19
|
||
doi: 10.4274/balkanmedj.galenos.2023.2022-12-28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37073110" target="_blank">37073110</a><a href="/pmc/articles/PMC10339848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31847678">The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hom GL,
|
||
Moodley S,
|
||
Rothner AD,
|
||
Moodley M</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2020 Mar;35(3):242-246.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1177/0883073819889713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31847678" target="_blank">31847678</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31443616">Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kokkinou E,
|
||
Roka K,
|
||
Alexopoulos A,
|
||
Tsina E,
|
||
Nikas I,
|
||
Krallis P,
|
||
Thanopoulou I,
|
||
Nasi L,
|
||
Makrygianni E,
|
||
Tsoutsou E,
|
||
Kosma K,
|
||
Tsipi M,
|
||
Tzetis M,
|
||
Frysira H,
|
||
Kattamis A,
|
||
Pons R</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2019 Sep;131(7):445-452.
|
||
Epub 2019 Sep 12
|
||
doi: 10.1080/00325481.2019.1659708.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31443616" target="_blank">31443616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26314566">High prevalence of elevated blood pressure among children with neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dubov T,
|
||
Toledano-Alhadef H,
|
||
Chernin G,
|
||
Constantini S,
|
||
Cleper R,
|
||
Ben-Shachar S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 Jan;31(1):131-6.
|
||
Epub 2015 Aug 28
|
||
doi: 10.1007/s00467-015-3191-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26314566" target="_blank">26314566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23095048">Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Descheemaeker MJ,
|
||
Plasschaert E,
|
||
Frijns JP,
|
||
Legius E</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2013 Sep;57(9):874-86.
|
||
Epub 2012 Oct 24
|
||
doi: 10.1111/j.1365-2788.2012.01648.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23095048" target="_blank">23095048</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inguinal%20freckling%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35749292">Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang MX,
|
||
Dillman JR,
|
||
Guccione J,
|
||
Habiba A,
|
||
Maher M,
|
||
Kamel S,
|
||
Panse PM,
|
||
Jensen CT,
|
||
Elsayes KM</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2022 Jul-Aug;42(4):1123-1144.
|
||
Epub 2022 Jun 24
|
||
doi: 10.1148/rg.210235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35749292" target="_blank">35749292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30885426">Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alves Júnior SF,
|
||
Zanetti G,
|
||
Alves de Melo AS,
|
||
Souza AS Jr,
|
||
Souza LS,
|
||
de Souza Portes Meirelles G,
|
||
Irion KL,
|
||
Hochhegger B,
|
||
Marchiori E</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2019 Mar;149:9-15.
|
||
Epub 2019 Jan 17
|
||
doi: 10.1016/j.rmed.2019.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30885426" target="_blank">30885426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21715194">A rare vulvar manifestation of neurofibromatosis 1 in a teen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skorupski JC,
|
||
Hafener HK,
|
||
Smith YR,
|
||
Quint EH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2011 Oct;24(5):e103-5.
|
||
Epub 2011 Jun 29
|
||
doi: 10.1016/j.jpag.2011.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21715194" target="_blank">21715194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18700436">Ocular manifestations of neurofibromatosis 1--m. Recklinghausen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gromova M,
|
||
Gerinec A</span><br />
|
||
<span class="medgenPMjournal">Bratisl Lek Listy</span>
|
||
2008;109(6):259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18700436" target="_blank">18700436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18634177">Ocular manifestations of neurofibromatosis 1 - m. Recklinghausen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gromova M,
|
||
Gerinec A</span><br />
|
||
<span class="medgenPMjournal">Bratisl Lek Listy</span>
|
||
2008;109(5):246-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18634177" target="_blank">18634177</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inguinal%20freckling%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30885426">Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alves Júnior SF,
|
||
Zanetti G,
|
||
Alves de Melo AS,
|
||
Souza AS Jr,
|
||
Souza LS,
|
||
de Souza Portes Meirelles G,
|
||
Irion KL,
|
||
Hochhegger B,
|
||
Marchiori E</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2019 Mar;149:9-15.
|
||
Epub 2019 Jan 17
|
||
doi: 10.1016/j.rmed.2019.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30885426" target="_blank">30885426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30711963">Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehlan J,
|
||
Schüttauf F,
|
||
Salamon JM,
|
||
Kordes U,
|
||
Friedrich RE,
|
||
Mautner VF</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2019 Feb;39(2):827-831.
|
||
doi: 10.21873/anticanres.13181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30711963" target="_blank">30711963</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inguinal%20freckling%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/30885426">Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alves Júnior SF,
|
||
Zanetti G,
|
||
Alves de Melo AS,
|
||
Souza AS Jr,
|
||
Souza LS,
|
||
de Souza Portes Meirelles G,
|
||
Irion KL,
|
||
Hochhegger B,
|
||
Marchiori E</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2019 Mar;149:9-15.
|
||
Epub 2019 Jan 17
|
||
doi: 10.1016/j.rmed.2019.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30885426" target="_blank">30885426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28776093">Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrari L,
|
||
Scuvera G,
|
||
Tucci A,
|
||
Bianchessi D,
|
||
Rusconi F,
|
||
Menni F,
|
||
Battaglioli E,
|
||
Milani D,
|
||
Riva P</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2017 Oct;136(10):1329-1339.
|
||
Epub 2017 Aug 3
|
||
doi: 10.1007/s00439-017-1832-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28776093" target="_blank">28776093</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inguinal%20freckling%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34418705">Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ece Solmaz A,
|
||
Isik E,
|
||
Atik T,
|
||
Ozkinay F,
|
||
Onay H</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Sep;208:106884.
|
||
Epub 2021 Aug 12
|
||
doi: 10.1016/j.clineuro.2021.106884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34418705" target="_blank">34418705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23095048">Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Descheemaeker MJ,
|
||
Plasschaert E,
|
||
Frijns JP,
|
||
Legius E</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2013 Sep;57(9):874-86.
|
||
Epub 2012 Oct 24
|
||
doi: 10.1111/j.1365-2788.2012.01648.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23095048" target="_blank">23095048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16138229">High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trovó-Marqui AB,
|
||
Goloni-Bertollo EM,
|
||
Valério NI,
|
||
Pavarino-Bertelli EC,
|
||
Muniz MP,
|
||
Teixeira MF,
|
||
Antonio JR,
|
||
Tajara EH</span><br />
|
||
<span class="medgenPMjournal">Braz J Med Biol Res</span>
|
||
2005 Sep;38(9):1441-7.
|
||
Epub 2005 Aug 26
|
||
doi: 10.1590/s0100-879x2005000900020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16138229" target="_blank">16138229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7979446">Familial multiple cafe au lait spots.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnsmeier SL,
|
||
Riccardi VM,
|
||
Paller AS</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1994 Nov;130(11):1425-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7979446" target="_blank">7979446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inguinal%20freckling%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22inguinal%20freckling%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(%22Inguinal%20freckling%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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