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<meta name="keywords" content="C3714949, disease or syndrome, krt6b, krt6b pachyonychia congenita, pachyonychia congenita 4, pachyonychia congenita caused by mutation in krt6b, pachyonychia congenita type 4, pc4, 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="Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=811524
|
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ConceptID=C3714949
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-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1280/bin/pc-Image001.gif" src-large="/books/NBK1280/bin/pc-Image001.jpg" /></a><br /><a href="/books/NBK1280/figure/pc.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1280/bin/pc-Image002.gif" src-large="/books/NBK1280/bin/pc-Image002.jpg" /></a><br /><a href="/books/NBK1280/figure/pc.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Pachyonychia congenita 4<span class="h1sub">(PC4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811524</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:">C3714949</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>PC4</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="KRT6B - ID: 3854 - NCBI Gene" href="/gene/3854" class="medgenPMinfo">KRT6B</a> (12q13.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014325" target="_blank">MONDO:0014325</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615728" target="_blank">615728</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_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1280" target="_blank">Pachyonychia Congenita</a></div><div>Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1280#pc.Summary" target="NBK1280">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Diagnosis" target="NBK1280">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Clinical_Characteristics" target="NBK1280">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Genetically_Related_Allelic_Disorders" target="NBK1280">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Differential_Diagnosis" target="NBK1280">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Management" target="NBK1280">Management</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Genetic_Counseling" target="NBK1280">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Resources" target="NBK1280">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Molecular_Genetics" target="NBK1280">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.Chapter_Notes" target="NBK1280">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1280#pc.References" target="NBK1280">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Frances JD Smith | C David Hansen | Peter R Hull<i>, et. al.</i> <a href="/books/NBK1280" target="NBK1280" title="NCBI Bookshelf: Pachyonychia Congenita">view full author information</a></div></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_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).
|
||
For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200.
|
||
Historical Classification of Pachyonychia Congenita
|
||
Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.
|
||
Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.
|
||
On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. <a target="_blank" href="http://www.omim.org/entry/615728">http://www.omim.org/entry/615728</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia congenita can also affect the voice box (larynx), causing hoarseness or breathing problems. <br /><br />Researchers used to classigy pachyonychia congenita as either PC-1 or PC-2 based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the signs and symptoms of the types overlapped considerably. Pachyonychia congenita is now classified into five types based on the gene that is altered.<br /><br />Pachyonychia congenita can have several additional features. These features include thickened skin on the palms of the hands (palmar keratoderma), which can be painful; thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps that develop around hair follicles (follicular keratoses) on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis).<br /><br />Most people with pachyonychia congenita also show some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. The number of affected nails varies.<br /><br />Almost everyone with pachyonychia congenita develops very painful calluses on the soles of the feet. This condition is known as plantar keratoderma. Calluses usually begin to form on the feet in childhood when kids first start to walk. The calluses can make walking painful or impossible. In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the calluses, increasing pain and discomfort.<br /><br />Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pachyonychia-congenita">https://medlineplus.gov/genetics/condition/pachyonychia-congenita</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_75476"><div><strong>Steatocystoma multiplex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75476</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.">C0259771</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75476">Feature record</a> | <a href="/medgen?term=%22Steatocystoma%20multiplex%22%5BClinical%20Features%5D%20OR%2075476%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_66368"><div><strong>Nail dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66368</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.">C0221260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66368">Feature record</a> | <a href="/medgen?term=%22Nail%20dystrophy%22%5BClinical%20Features%5D%20OR%2066368%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 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 the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail dystrophy</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatocystoma multiplex</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265334[DISCUI]&test_type=Clinical" ref="ncbi_uid=78556">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1280/" ref="ncbi_uid=78556">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/78556" ref="tree=GTR&ncbi_uid=78556&link_uid=78556" title="View MedGen record for 'Pachyonychia congenita syndrome'">Pachyonychia congenita syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1706595[DISCUI]&test_type=Clinical" ref="ncbi_uid=353335">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=353335" target="_blank" href="/omim/148067">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1280/" ref="ncbi_uid=353335">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=353335" ref="ncbi_uid=353335">V</a></span></span><span class="TLline"><a href="/medgen/353335" ref="tree=GTR&ncbi_uid=353335&link_uid=353335" title="View MedGen record for 'Pachyonychia congenita 1'">Pachyonychia congenita 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1721007[DISCUI]&test_type=Clinical" ref="ncbi_uid=314107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=314107" target="_blank" href="/omim/148069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1280/" ref="ncbi_uid=314107">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=314107" ref="ncbi_uid=314107">V</a></span></span><span class="TLline"><a href="/medgen/314107" ref="tree=GTR&ncbi_uid=314107&link_uid=314107" title="View MedGen record for 'Pachyonychia congenita 2'">Pachyonychia congenita 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714948[DISCUI]&test_type=Clinical" ref="ncbi_uid=811523">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811523" target="_blank" href="/omim/148041">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1280/" ref="ncbi_uid=811523">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811523" ref="ncbi_uid=811523">V</a></span></span><span class="TLline"><a href="/medgen/811523" ref="tree=GTR&ncbi_uid=811523&link_uid=811523" title="View MedGen record for 'Pachyonychia congenita 3'">Pachyonychia congenita 3</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714949[DISCUI]&test_type=Clinical" ref="ncbi_uid=811524">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811524" target="_blank" href="/omim/148042">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1280/" ref="ncbi_uid=811524">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811524" ref="ncbi_uid=811524">V</a></span></span><span class="TLline">Pachyonychia congenita 4</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842766" ref="tree=MeSH" title="MedGen record for Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature">Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature</a></span><ul><li><span class="TLline"><a href="/medgen/78556" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita syndrome">Pachyonychia congenita syndrome</a></span><ul><li><span class="matched_ds">Pachyonychia congenita 4</span></li></ul></li></ul></li></ul></div></div></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/37994233">Successful treatment of pachyonychia congenita with simvastatin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iqneibi M,
|
||
Al-Khawaga S,
|
||
Wafi O,
|
||
Steinhoff M</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2024 Apr;38(4):e356-e358.
|
||
Epub 2023 Nov 22
|
||
doi: 10.1111/jdv.19630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994233" target="_blank">37994233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658016">Phenotype and genotype features of Vietnamese children with pachyonychia congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu HT,
|
||
Dinh Duong TA,
|
||
Le DH,
|
||
Le TV,
|
||
Nguyen BB,
|
||
Dang CV,
|
||
Vu QV</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neonatol</span>
|
||
2023 Jul;64(4):405-410.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1016/j.pedneo.2022.09.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658016" target="_blank">36658016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31127950">A treatment protocol for botulinum toxin injections in the treatment of pachyonychia congenita-associated keratoderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koren A,
|
||
Sprecher E,
|
||
Reider E,
|
||
Artzi O</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2020 Mar;182(3):671-677.
|
||
Epub 2019 Sep 8
|
||
doi: 10.1111/bjd.18169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31127950" target="_blank">31127950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pachyonychia%20congenita%204)%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 (5)</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/36658016">Phenotype and genotype features of Vietnamese children with pachyonychia congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu HT,
|
||
Dinh Duong TA,
|
||
Le DH,
|
||
Le TV,
|
||
Nguyen BB,
|
||
Dang CV,
|
||
Vu QV</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neonatol</span>
|
||
2023 Jul;64(4):405-410.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1016/j.pedneo.2022.09.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658016" target="_blank">36658016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36443263">Defining patient-centered research priorities in pediatric dermatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neale H,
|
||
Schrandt S,
|
||
Abbott BM,
|
||
Austin J,
|
||
Brand C,
|
||
Camp K,
|
||
Devenport K,
|
||
Hall M,
|
||
Isbell L,
|
||
Miciano C,
|
||
Pry S,
|
||
Quinn P,
|
||
Rittle J,
|
||
Tenconi F,
|
||
Terrell J,
|
||
Weiss M,
|
||
Zavitz S,
|
||
Siegel M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2023 Mar;40(2):250-257.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1111/pde.15199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36443263" target="_blank">36443263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33190296">Molecular epidemiology of pachyonychia congenita in the Israeli population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavlovsky M,
|
||
Peled A,
|
||
Samuelov L,
|
||
Malki L,
|
||
Malovitski K,
|
||
Assaf S,
|
||
Mohamad J,
|
||
Meijers O,
|
||
Eskin-Schwartz M,
|
||
Sarig O,
|
||
Sprecher E</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
2021 Jun;46(4):663-668.
|
||
Epub 2020 Dec 20
|
||
doi: 10.1111/ced.14509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33190296" target="_blank">33190296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11453928">Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Steensel MA,
|
||
Koedam MI,
|
||
Swinkels OQ,
|
||
Rietveld F,
|
||
Steijlen PM</span><br />
|
||
<span class="medgenPMjournal">Br J Dermatol</span>
|
||
2001 Jul;145(1):157-61.
|
||
doi: 10.1046/j.1365-2133.2001.04303.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11453928" target="_blank">11453928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3053803">Pachyonychia congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feinstein A,
|
||
Friedman J,
|
||
Schewach-Millet M</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1988 Oct;19(4):705-11.
|
||
doi: 10.1016/s0190-9622(88)70226-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3053803" target="_blank">3053803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%204%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38619174">A Rare Case of Pachyonychia Congenita and the Need for Awareness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kork H,
|
||
Yıldırım G,
|
||
Altan Ferhatoğlu Z</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2024 Jul 5;41(4):317-318.
|
||
Epub 2024 Apr 15
|
||
doi: 10.4274/balkanmedj.galenos.2024.2024-2-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38619174" target="_blank">38619174</a><a href="/pmc/articles/PMC11588907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38099888">Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Toole EA,
|
||
Kelsell DP,
|
||
Caterina MJ,
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<div class="nl"><a target="_blank" href="/pubmed/36658016">Phenotype and genotype features of Vietnamese children with pachyonychia congenita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chu HT,
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Dinh Duong TA,
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Le DH,
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Le TV,
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2023 Jul;64(4):405-410.
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<div class="portlet_content ln"><span class="medgenPMauthor">Chotai N,
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2021 Apr;27(4):389-390.
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<span class="bold">PMID: </span><a href="/pubmed/33527591" target="_blank">33527591</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piraccini BM,
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2014 Aug;26(4):440-5.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%204%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 (25)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31845382">The histopathological features of the nail plate in pachyonychia congenita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stewart CL,
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2020 Apr;47(4):357-362.
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<span class="bold">PMID: </span><a href="/pubmed/31845382" target="_blank">31845382</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31343433">Intravenous Ketamine as an Adjunct for Pachyonychia Congenita-Associated Pain: A Case Report.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paul JM,
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Orlovich DS,
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Patton JW,
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Qian X</span><br />
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2019 Oct 15;13(8):319-321.
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doi: 10.1213/XAA.0000000000001066.
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<span class="bold">PMID: </span><a href="/pubmed/31343433" target="_blank">31343433</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29277538">Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kerns ML,
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Hakim JMC,
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Zieman A,
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Lu RG,
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Coulombe PA</span><br />
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<span class="medgenPMjournal">J Invest Dermatol</span>
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2018 May;138(5):1094-1100.
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Epub 2017 Dec 24
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<span class="bold">PMID: </span><a href="/pubmed/29277538" target="_blank">29277538</a><a href="/pmc/articles/PMC5912985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/24886951">Nail disorders in infants and children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piraccini BM,
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Starace M</span><br />
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<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
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2014 Aug;26(4):440-5.
|
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doi: 10.1097/MOP.0000000000000116.
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||
<span class="bold">PMID: </span><a href="/pubmed/24886951" target="_blank">24886951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16536826">Treatment of pachyonychia congenita with plantar injections of botulinum toxin.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Swartling C,
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Vahlquist A</span><br />
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doi: 10.1111/j.1365-2133.2005.07115.x.
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<span class="bold">PMID: </span><a href="/pubmed/16536826" target="_blank">16536826</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%204%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24132595">Pachyonychia congenita in pediatric patients: natural history, features, and impact.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Shah S,
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Boen M,
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Kenner-Bell B,
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Schwartz M,
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Rademaker A,
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Paller AS</span><br />
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<span class="medgenPMjournal">JAMA Dermatol</span>
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2014 Feb;150(2):146-53.
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doi: 10.1001/jamadermatol.2013.6448.
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<span class="bold">PMID: </span><a href="/pubmed/24132595" target="_blank">24132595</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22264670">A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Eliason MJ,
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Leachman SA,
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Feng BJ,
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Schwartz ME,
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Hansen CD</span><br />
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
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2012 Oct;67(4):680-6.
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<span class="bold">PMID: </span><a href="/pubmed/22264670" target="_blank">22264670</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15102078">A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Xiao SX,
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Feng YG,
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Ren XR,
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Tan SS,
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Li L,
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Wang JM,
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Shi YZ</span><br />
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2004 Apr;122(4):892-5.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%204%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/37317732">Walking a day in a pachyonychia congenita patient's shoes: Impact on plantar pain and activity levels measured with wristband activity trackers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipner SR,
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Falotico JM,
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Matushansky JT,
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Evans H,
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2023 Nov-Dec;89(6):850-853.
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doi: 10.25259/IJDVL_939_2022.
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<span class="bold">PMID: </span><a href="/pubmed/37317732" target="_blank">37317732</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29210461">Chronic pain in pachyonychia congenita: evidence for neuropathic origin.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Brill S,
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Sprecher E,
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Smith FJD,
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Geva N,
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Gruener H,
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Nahman-Averbuch H,
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<span class="medgenPMjournal">Br J Dermatol</span>
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2018 Jul;179(1):154-162.
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Epub 2018 Apr 25
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<span class="bold">PMID: </span><a href="/pubmed/29210461" target="_blank">29210461</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21576551">Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pho LN,
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Konecki D,
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Bale S,
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Cohen B,
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2011 Sep;147(9):1077-80.
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<span class="bold">PMID: </span><a href="/pubmed/21576551" target="_blank">21576551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12688839">The molecular genetics of keratin disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Smith F</span><br />
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2003;4(5):347-64.
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<span class="bold">PMID: </span><a href="/pubmed/12688839" target="_blank">12688839</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11453928">Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Steensel MA,
|
||
Koedam MI,
|
||
Swinkels OQ,
|
||
Rietveld F,
|
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Steijlen PM</span><br />
|
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<span class="medgenPMjournal">Br J Dermatol</span>
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2001 Jul;145(1):157-61.
|
||
doi: 10.1046/j.1365-2133.2001.04303.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11453928" target="_blank">11453928</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%204%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 (15)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3714949%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714949%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3714949%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615728" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pachyonychia%20congenita%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pachyonychia%20congenita%204)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=148042" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3854[geneid]" target="_blank">View KRT6B variations in ClinVar</a></li><li><a href="/nuccore/194473708" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=615728" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/pachyonychia_congenita_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pachyonychia%20congenita%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pachyonychia-congenita" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16006/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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