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<meta name="keywords" content="C0343111, disease or syndrome, franceschetti-jadassohn syndrome, krt14, naegeli syndrome, naegeli's syndrome, naegeli-franceschetti-jadassohn syndrome, nfj syndrome, nfjs, reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy, 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="Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=91010
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ConceptID=C0343111
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Naegeli-Franceschetti-Jadassohn syndrome<span class="h1sub">(NFJS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91010</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:">C0343111</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Naegeli syndrome; NFJ SYNDROME; NFJS; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Naegeli-Franceschetti-Jadassohn syndrome (239084001); Naegeli's syndrome (239084001); Franceschetti-Jadassohn syndrome (239084001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KRT14 - ID: 3861 - NCBI Gene" href="/gene/3861" class="medgenPMinfo">KRT14</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008059" target="_blank">MONDO:0008059</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/161000" target="_blank">161000</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=69087">ORPHA69087</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>
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||
<div class="portlet_content ln">Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).<br /><br />Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.<br /><br />Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life.<br /><br />NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints. <a target="_blank" href="https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis">https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1635750"><div><strong>Palmoplantar keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635750</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.">C4551675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal thickening of the skin of the palms of the hands and the soles of the feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635750">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratoderma%22%5BClinical%20Features%5D%20OR%201635750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66659"><div><strong>Heat intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66659</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.">C0231274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The inability to maintain a comfortable body temperature in warm or hot weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66659">Feature record</a> | <a href="/medgen?term=%22Heat%20intolerance%22%5BClinical%20Features%5D%20OR%2066659%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8288"><div><strong>Carious teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8288</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.">C0011334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8288">Feature record</a> | <a href="/medgen?term=%22Carious%20teeth%22%5BClinical%20Features%5D%20OR%208288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66678"><div><strong>Premature loss of teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66678</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.">C0232513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66678">Feature record</a> | <a href="/medgen?term=%22Premature%20loss%20of%20teeth%22%5BClinical%20Features%5D%20OR%2066678%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43796"><div><strong>Hypohidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43796</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.">C0020620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally diminished capacity to sweat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43796">Feature record</a> | <a href="/medgen?term=%22Hypohidrosis%22%5BClinical%20Features%5D%20OR%2043796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338832"><div><strong>Reticular hyperpigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338832</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.">C1851972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased pigmentation of the skin with a netlike (reticular) pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338832">Feature record</a> | <a href="/medgen?term=%22Reticular%20hyperpigmentation%22%5BClinical%20Features%5D%20OR%20338832%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338875"><div><strong>Adermatoglyphia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338875</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.">C1852150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338875">Feature record</a> | <a href="/medgen?term=%22Adermatoglyphia%22%5BClinical%20Features%5D%20OR%20338875%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341661"><div><strong>Fragile nails</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341661</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.">C1856963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nails that easily break.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341661">Feature record</a> | <a href="/medgen?term=%22Fragile%20nails%22%5BClinical%20Features%5D%20OR%20341661%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carious teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature loss of teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1635750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratoderma</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heat intolerance</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338875" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adermatoglyphia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile nails</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticular hyperpigmentation</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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=C0343111[DISCUI]&test_type=Clinical" ref="ncbi_uid=91010">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=91010" target="_blank" href="/omim/148066">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=91010" ref="ncbi_uid=91010">V</a></span></span><span class="TLline">Naegeli-Franceschetti-Jadassohn syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842991" ref="tree=MeSH" title="MedGen record for Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature">Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature</a></span><ul><li><span class="matched_ds">Naegeli-Franceschetti-Jadassohn syndrome</span></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=10921&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Naegeli-Franceschetti-Jadassohn syndrome</span> in Orphanet.</div></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/39139099">An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohapatra L,
|
||
Sardana K,
|
||
Panda M,
|
||
Mahajan R</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2024 Dec 23;50(1):12-20.
|
||
doi: 10.1093/ced/llae322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39139099" target="_blank">39139099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37372478">Inherited Reticulate Pigmentary Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin MH,
|
||
Chou PC,
|
||
Lee IC,
|
||
Yang SF,
|
||
Yu HS,
|
||
Yu S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jun 20;14(6)
|
||
doi: 10.3390/genes14061300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37372478" target="_blank">37372478</a><a href="/pmc/articles/PMC10298214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8496458">Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Lautenschlager S,
|
||
Meyer R,
|
||
Mevorah B,
|
||
Rufli T</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1993 Jun;28(6):942-50.
|
||
doi: 10.1016/0190-9622(93)70135-g.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8496458" target="_blank">8496458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Naegeli-Franceschetti-Jadassohn%20syndrome%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24261749">Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tubaigy SM,
|
||
Hassan HM</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2014 Mar;59(2):555-8.
|
||
Epub 2013 Nov 21
|
||
doi: 10.1111/1556-4029.12316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24261749" target="_blank">24261749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9812038">Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Lautenschlager S</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1998;197(3):281-90.
|
||
doi: 10.1159/000018015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9812038" target="_blank">9812038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9125768">Reticulate hyperpigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnur RE,
|
||
Heymann WR</span><br />
|
||
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
|
||
1997 Mar;16(1):72-80.
|
||
doi: 10.1016/s1085-5629(97)80038-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9125768" target="_blank">9125768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8496458">Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Lautenschlager S,
|
||
Meyer R,
|
||
Mevorah B,
|
||
Rufli T</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1993 Jun;28(6):942-50.
|
||
doi: 10.1016/0190-9622(93)70135-g.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8496458" target="_blank">8496458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/939040">Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sparrow GP,
|
||
Samman PD,
|
||
Wells RS</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
1976 Jun;1(2):127-40.
|
||
doi: 10.1111/j.1365-2230.1976.tb01408.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/939040" target="_blank">939040</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Naegeli-Franceschetti-Jadassohn%20syndrome%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9125768">Reticulate hyperpigmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnur RE,
|
||
Heymann WR</span><br />
|
||
<span class="medgenPMjournal">Semin Cutan Med Surg</span>
|
||
1997 Mar;16(1):72-80.
|
||
doi: 10.1016/s1085-5629(97)80038-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9125768" target="_blank">9125768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Naegeli-Franceschetti-Jadassohn%20syndrome%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24261749">Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tubaigy SM,
|
||
Hassan HM</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2014 Mar;59(2):555-8.
|
||
Epub 2013 Nov 21
|
||
doi: 10.1111/1556-4029.12316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24261749" target="_blank">24261749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16960809">Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lugassy J,
|
||
Itin P,
|
||
Ishida-Yamamoto A,
|
||
Holland K,
|
||
Huson S,
|
||
Geiger D,
|
||
Hennies HC,
|
||
Indelman M,
|
||
Bercovich D,
|
||
Uitto J,
|
||
Bergman R,
|
||
McGrath JA,
|
||
Richard G,
|
||
Sprecher E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2006 Oct;79(4):724-30.
|
||
Epub 2006 Aug 25
|
||
doi: 10.1086/507792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16960809" target="_blank">16960809</a><a href="/pmc/articles/PMC1592572" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8496458">Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itin PH,
|
||
Lautenschlager S,
|
||
Meyer R,
|
||
Mevorah B,
|
||
Rufli T</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1993 Jun;28(6):942-50.
|
||
doi: 10.1016/0190-9622(93)70135-g.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8496458" target="_blank">8496458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Naegeli-Franceschetti-Jadassohn%20syndrome%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/39139099">An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohapatra L,
|
||
Sardana K,
|
||
Panda M,
|
||
Mahajan R</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2024 Dec 23;50(1):12-20.
|
||
doi: 10.1093/ced/llae322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39139099" target="_blank">39139099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18049449">KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lugassy J,
|
||
McGrath JA,
|
||
Itin P,
|
||
Shemer R,
|
||
Verbov J,
|
||
Murphy HR,
|
||
Ishida-Yamamoto A,
|
||
Digiovanna JJ,
|
||
Bercovich D,
|
||
Karin N,
|
||
Vitenshtein A,
|
||
Uitto J,
|
||
Bergman R,
|
||
Richard G,
|
||
Sprecher E</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2008 Jun;128(6):1517-24.
|
||
Epub 2007 Nov 29
|
||
doi: 10.1038/sj.jid.5701187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18049449" target="_blank">18049449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16960809">Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lugassy J,
|
||
Itin P,
|
||
Ishida-Yamamoto A,
|
||
Holland K,
|
||
Huson S,
|
||
Geiger D,
|
||
Hennies HC,
|
||
Indelman M,
|
||
Bercovich D,
|
||
Uitto J,
|
||
Bergman R,
|
||
McGrath JA,
|
||
Richard G,
|
||
Sprecher E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2006 Oct;79(4):724-30.
|
||
Epub 2006 Aug 25
|
||
doi: 10.1086/507792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16960809" target="_blank">16960809</a><a href="/pmc/articles/PMC1592572" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12230514">Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sprecher E,
|
||
Itin P,
|
||
Whittock NV,
|
||
McGrath JA,
|
||
Meyer R,
|
||
DiGiovanna JJ,
|
||
Bale SJ,
|
||
Uitto J,
|
||
Richard G</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2002 Sep;119(3):692-8.
|
||
doi: 10.1046/j.1523-1747.2002.01855.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12230514" target="_blank">12230514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10998145">The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whittock NV,
|
||
Coleman CM,
|
||
McLean WH,
|
||
Ashton GH,
|
||
Acland KM,
|
||
Eady RA,
|
||
McGrath JA</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
2000 Oct;115(4):694-8.
|
||
doi: 10.1046/j.1523-1747.2000.00097.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10998145" target="_blank">10998145</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Naegeli-Franceschetti-Jadassohn%20syndrome%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 (6)</a></div></div>
|
||
</div>
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="rightCol mgCol">
|
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<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><li><a href="/gtr/tests?term=C0343111%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0343111%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0343111%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0343111%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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