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<meta name="keywords" content="C0263491, coarse, dry, lusterless hair which breaks off easily, finding, flattened and twisted hair, pili torti, pili torti (disease), pili torti, early-onset, pili torti, ronchese type, twisted hair, 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="Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=82670
|
||
ConceptID=C0263491
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pili torti</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82670</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.">C0263491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PILI TORTI, EARLY-ONSET; PILI TORTI, RONCHESE TYPE; TWISTED HAIR</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pili torti (17170005); Twisted hair (17170005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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:0003777">HP:0003777</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009870" target="_blank">MONDO:0009870</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/261900" target="_blank">261900</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=2889">ORPHA2889</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_3730"><div><strong>Enamel hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3730</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.">C0011351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the dental enamel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3730">Feature record</a> | <a href="/medgen?term=%22Enamel%20hypoplasia%22%5BClinical%20Features%5D%20OR%203730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120480"><div><strong>Brittle hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120480</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.">C0263490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fragile, easily breakable hair, i.e., with reduced tensile strength.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120480">Feature record</a> | <a href="/medgen?term=%22Brittle%20hair%22%5BClinical%20Features%5D%20OR%20120480%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82670"><div><strong>Pili torti</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82670</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.">C0263491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82670">Feature record</a> | <a href="/medgen?term=%22Pili%20torti%22%5BClinical%20Features%5D%20OR%2082670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124454"><div><strong>Coarse hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124454</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.">C0277959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hair shafts are rough in texture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124454">Feature record</a> | <a href="/medgen?term=%22Coarse%20hair%22%5BClinical%20Features%5D%20OR%20124454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75809"><div><strong>Dry hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75809</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.">C0277960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hair that lacks the luster (shine or gleam) of normal hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75809">Feature record</a> | <a href="/medgen?term=%22Dry%20hair%22%5BClinical%20Features%5D%20OR%2075809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871158"><div><strong>Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871158</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.">C4025631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871158">Feature record</a> | <a href="/medgen?term=%22Hair%20shafts%20flattened%20at%20irregular%20intervals%20and%20twisted%20through%20180%20degrees%20about%20their%20axes%22%5BClinical%20Features%5D%20OR%20871158%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_3730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enamel hypoplasia</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_120480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brittle hair</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse hair</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dry hair</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pili torti</a></span></li></ul></li></ul></div></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><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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82670" target="_blank" href="/omim/261900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Pili torti</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/869100" ref="tree=MeSH" title="MedGen record for Abnormal skin adnexa morphology">Abnormal skin adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/56381" ref="tree=MeSH" title="MedGen record for Abnormal hair morphology">Abnormal hair morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1815044" ref="tree=MeSH" title="MedGen record for Abnormal hairshaft morphology">Abnormal hairshaft morphology</a></span><ul><li><span class="matched_ds">Pili torti</span></li></ul></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=2618&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Pili torti</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_82670"><div><strong>Pili torti</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82670</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.">C0263491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82670">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82728"><div><strong>Pili torti-deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82728</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.">C0266006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82728">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82793"><div><strong>Cutis laxa, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82793</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.">C0268353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82793">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_87539"><div><strong>Follicular atrophoderma and basal cell epitheliomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87539</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.">C0346104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87539">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98032"><div><strong>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98032</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.">C0406709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98032">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_316921"><div><strong>Congenital hypotrichosis with juvenile macular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316921</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.">C1832162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by hair loss followed by progressive macular degeneration and early blindness. Scalp hair is lost during the first months of life, with onset of retinal degeneration and vision loss a few years to 2 decades later (summary by Sprecher et al., 2001 and Indelman et al., 2002).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/316921">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332073"><div><strong>Autosomal recessive congenital ichthyosis 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332073</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.">C1835851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332073">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335812"><div><strong>Hypotrichosis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335812</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.">C1842839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hypotrichosis-6 (HYPT6) is a localized autosomal recessive hypotrichosis characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis LAH2 (HYPT7; 604379) is caused by mutation in the LIPH gene (607365) on chromosome 3q27, and LAH3 (HYPT8; 278150) is caused by mutation in the LPAR6 (P2RY5) gene (609239) on chromosome 13q14.12-q14.2. See also hypotrichosis and recurrent skin vesicles (613102), which is caused by mutation in the DSC3 gene (600271).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335812">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342358"><div><strong>Pili torti-developmental delay-neurological abnormalities syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342358</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.">C1849811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (summary by Sharma et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342358">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355730"><div><strong>Trichothiodystrophy 1, photosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355730</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.">C1866504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. </div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355730">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_444067"><div><strong>Cleft lip/palate-ectodermal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444067</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.">C2931488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/444067">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462157"><div><strong>Ectodermal dysplasia-syndactyly syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462157</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.">C3150807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462157">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_870434"><div><strong>Ectodermal dysplasia 4, hair/nail type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870434</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.">C4024880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/870434">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 11</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft lip/palate-ectodermal dysplasia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hypotrichosis with juvenile macular dystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, X-linked</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_870434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 4, hair/nail type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia-syndactyly syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular atrophoderma and basal cell epitheliomata</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotrichosis 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pili torti</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pili torti-deafness syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pili torti-developmental delay-neurological abnormalities syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 1, photosensitive</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/27293153">Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh G,
|
||
Miteva M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Sep;33(5):481-7.
|
||
Epub 2016 Jun 13
|
||
doi: 10.1111/pde.12902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27293153" target="_blank">27293153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27292719">Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh G,
|
||
Miteva M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Sep;33(5):473-80.
|
||
Epub 2016 Jun 13
|
||
doi: 10.1111/pde.12894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27292719" target="_blank">27292719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pili%20torti%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/37816838">Cochlear implantation in Bjornstad syndrome: a case series with literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gülşen S,
|
||
Çıkrıkcı S</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 Feb;281(2):1047-1052.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1007/s00405-023-08265-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37816838" target="_blank">37816838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31372982">Dermoscopic features of lichen planopilaris in Northern Iran: a prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eftekhari H,
|
||
Azimi SZ,
|
||
Rafiei R,
|
||
Darjani A,
|
||
Alizadeh N,
|
||
Rafiei E,
|
||
Ghadarjani R,
|
||
Gharaei Nejad K</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2019 Dec;58(12):1406-1414.
|
||
Epub 2019 Aug 1
|
||
doi: 10.1111/ijd.14589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31372982" target="_blank">31372982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30810707">Acquired Pili Torti.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans JB,
|
||
Hastings JG,
|
||
Kaffenberger BH</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2019 Apr 1;155(4):488.
|
||
doi: 10.1001/jamadermatol.2018.4677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30810707" target="_blank">30810707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24566562">Alopecia in genetic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calvieri S,
|
||
Rossi A</span><br />
|
||
<span class="medgenPMjournal">G Ital Dermatol Venereol</span>
|
||
2014 Feb;149(1):1-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24566562" target="_blank">24566562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24251687">Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shao L,
|
||
Newell B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2014 Jan-Feb;17(1):36-43.
|
||
Epub 2013 Nov 19
|
||
doi: 10.2350/13-09-1375-OA.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24251687" target="_blank">24251687</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pili%20torti%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32498605">Visual Dermatology: Menkes Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez Ballesteros MD,
|
||
Gómez-Moyano E</span><br />
|
||
<span class="medgenPMjournal">J Cutan Med Surg</span>
|
||
2021 Mar-Apr;25(2):211.
|
||
Epub 2020 Jun 5
|
||
doi: 10.1177/1203475420932516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32498605" target="_blank">32498605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30810707">Acquired Pili Torti.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans JB,
|
||
Hastings JG,
|
||
Kaffenberger BH</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2019 Apr 1;155(4):488.
|
||
doi: 10.1001/jamadermatol.2018.4677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30810707" target="_blank">30810707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29288599">Pili torti, pale and elastic skin, and severe neurological impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gironi LC,
|
||
Peruzzi C,
|
||
Chierici V,
|
||
Marolda A,
|
||
Papa A,
|
||
Zottarelli F,
|
||
Savoia P,
|
||
Bona G,
|
||
Colombo E</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2018 Mar;16(3):360-363.
|
||
Epub 2017 Dec 30
|
||
doi: 10.1111/ddg.13407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29288599" target="_blank">29288599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25808203">Steatocystoma multiplex with hair shaft abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pietrzak A,
|
||
Bartosinska J,
|
||
Filip AA,
|
||
Rakowska A,
|
||
Adamczyk M,
|
||
Szumilo J,
|
||
Kanitakis J</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2015 May;42(5):521-3.
|
||
Epub 2015 Mar 21
|
||
doi: 10.1111/1346-8138.12837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25808203" target="_blank">25808203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3422852">Uncombable-hair syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matis WL,
|
||
Baden H,
|
||
Green R,
|
||
Boiko S,
|
||
Lucky AW,
|
||
Hornstein L,
|
||
Ashraf M,
|
||
Hood AF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
1987 Nov;4(3):215-9.
|
||
doi: 10.1111/j.1525-1470.1987.tb00781.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3422852" target="_blank">3422852</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pili%20torti%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 (48)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37816838">Cochlear implantation in Bjornstad syndrome: a case series with literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gülşen S,
|
||
Çıkrıkcı S</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 Feb;281(2):1047-1052.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1007/s00405-023-08265-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37816838" target="_blank">37816838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37709132">Progressive Kinking of the Hair and Pili Torti Secondary to Acitretin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballesteros-Redondo M,
|
||
Fernández-Domper L,
|
||
Montesinos-Villaescusa E</span><br />
|
||
<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2024 Apr;115(4):406.
|
||
Epub 2023 Sep 12
|
||
doi: 10.1016/j.ad.2023.01.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37709132" target="_blank">37709132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30810707">Acquired Pili Torti.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans JB,
|
||
Hastings JG,
|
||
Kaffenberger BH</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2019 Apr 1;155(4):488.
|
||
doi: 10.1001/jamadermatol.2018.4677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30810707" target="_blank">30810707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1638075">Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomita Y,
|
||
Kondo Y,
|
||
Ito S,
|
||
Hara M,
|
||
Yoshimura T,
|
||
Igarashi H,
|
||
Tagami H</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
1992;185(1):66-8.
|
||
doi: 10.1159/000247407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1638075" target="_blank">1638075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/876703">Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams DM,
|
||
Atkin CL,
|
||
Frens DB,
|
||
Bray PF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
1977 Jul;11(7):823-6.
|
||
doi: 10.1203/00006450-197707000-00009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/876703" target="_blank">876703</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pili%20torti%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31372982">Dermoscopic features of lichen planopilaris in Northern Iran: a prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eftekhari H,
|
||
Azimi SZ,
|
||
Rafiei R,
|
||
Darjani A,
|
||
Alizadeh N,
|
||
Rafiei E,
|
||
Ghadarjani R,
|
||
Gharaei Nejad K</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2019 Dec;58(12):1406-1414.
|
||
Epub 2019 Aug 1
|
||
doi: 10.1111/ijd.14589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31372982" target="_blank">31372982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27293153">Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh G,
|
||
Miteva M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Sep;33(5):481-7.
|
||
Epub 2016 Jun 13
|
||
doi: 10.1111/pde.12902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27293153" target="_blank">27293153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27292719">Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh G,
|
||
Miteva M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Sep;33(5):473-80.
|
||
Epub 2016 Jun 13
|
||
doi: 10.1111/pde.12894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27292719" target="_blank">27292719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10694305">Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selvaag E</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
2000 Mar;10(2):91-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10694305" target="_blank">10694305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7648886">Helical hairs: a new hair anomaly in a patient with Netherton's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lurie R,
|
||
Garty BZ</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
1995 Jun;55(6):349-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7648886" target="_blank">7648886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pili%20torti%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37816838">Cochlear implantation in Bjornstad syndrome: a case series with literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gülşen S,
|
||
Çıkrıkcı S</span><br />
|
||
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
|
||
2024 Feb;281(2):1047-1052.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1007/s00405-023-08265-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37816838" target="_blank">37816838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33085121">Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peña-Romero AG,
|
||
Sáez-de-Ocariz M,
|
||
Toussaint-Caire S,
|
||
Morán-Villaseñor E,
|
||
Orozco-Covarrubias L,
|
||
Durán-McKinster C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2021 Mar;38(2):442-448.
|
||
Epub 2020 Oct 21
|
||
doi: 10.1111/pde.14415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33085121" target="_blank">33085121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31372982">Dermoscopic features of lichen planopilaris in Northern Iran: a prospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eftekhari H,
|
||
Azimi SZ,
|
||
Rafiei R,
|
||
Darjani A,
|
||
Alizadeh N,
|
||
Rafiei E,
|
||
Ghadarjani R,
|
||
Gharaei Nejad K</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2019 Dec;58(12):1406-1414.
|
||
Epub 2019 Aug 1
|
||
doi: 10.1111/ijd.14589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31372982" target="_blank">31372982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30201151">Trichoscopy in Hair Shaft Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnicka L,
|
||
Olszewska M,
|
||
Waśkiel A,
|
||
Rakowska A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2018 Oct;36(4):421-430.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.det.2018.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30201151" target="_blank">30201151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12712334">Hair anomalies as a sign of mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silengo M,
|
||
Valenzise M,
|
||
Spada M,
|
||
Ferrero GB,
|
||
Ferraris S,
|
||
Dassi P,
|
||
Jarre L</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2003 Jul;162(7-8):459-461.
|
||
Epub 2003 Apr 24
|
||
doi: 10.1007/s00431-003-1228-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12712334" target="_blank">12712334</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pili%20torti%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 (25)</a></div></div>
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