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<meta name="keywords" content="C1706595, disease or syndrome, jadassohn lewandowski syndrome (pc 1), jadassohn lewandowsky syndrome, jadassohn-lewandowski syndrome (pc-1), jadassohn-lewandowsky syndrome, jadassohn-lewandowsky syndrome, formerly, krt16, krt16 pachyonychia congenita, krt16-related pachyonychia congenita, krt6a-related pachyonychia congenita, pachyonychia congenita 1, pachyonychia congenita caused by mutation in krt16, pachyonychia congenita jadassohn lewandowsky type, pachyonychia congenita tarda, type 1, pachyonychia congenita type 1, pachyonychia congenita, jadassohn lewandowsky type, pachyonychia congenita, jadassohn-lewandowsky type, pachyonychia congenita, jadassohn-lewandowsky type, formerly, pachyonychia congenita, late onset, pachyonychia congenita, type 1, pc1, syndrome, jadassohn-lewandowski (pc-1), type 1 pachyonychia congenita, 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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<title>Pachyonychia congenita 1 (Concept Id: C1706595)
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<!--
UID=353335
ConceptID=C1706595
-->
<!--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 1<span class="h1sub">(PC1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>353335</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)&#10;Click for more information.">C1706595</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Jadassohn Lewandowsky syndrome; KRT16-Related Pachyonychia Congenita; KRT6A-Related Pachyonychia Congenita; Pachyonychia congenita Jadassohn Lewandowsky type; PACHYONYCHIA CONGENITA, LATE ONSET; PC1</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Jadassohn-Lewandowsky syndrome (39427000)</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="KRT16 - ID: 3868 - NCBI Gene" href="/gene/3868" class="medgenPMinfo">KRT16</a> (17q21.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008173" target="_blank">MONDO:0008173</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/167200" target="_blank">167200</a></td></tr>
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<div class="portlet mgSection" id="ID_101">
<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>
<div class="portlet mgSection" id="ID_117">
<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).&#13;
Historical Classification of Pachyonychia Congenita&#13;
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.&#13;
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.&#13;
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.&#13;
Genetic Heterogeneity of Pachyonychia Congenita&#13;
See pachyonychia congenita-2 (PC2; 167210), caused by mutation in the KRT17 gene (148069) on chromosome 17; PC3 (615726), caused by mutation in the KRT6A gene (148041) on chromosome 2; and PC4 (615728), caused by mutation or in the KRT6B gene (148042) on chromosome 12.&#13;
See 260130 for a possible autosomal recessive form of pachyonychia congenita.  <a target="_blank" href="http://www.omim.org/entry/167200">http://www.omim.org/entry/167200</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_44017"><div><strong>Palmoplantar keratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44017</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)&#10;Click for more information.">C0022596</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 localized to the palm of the hand and the sole of the foot.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44017">Feature record</a> | <a href="/medgen?term=%22Palmoplantar%20keratosis%22%5BClinical%20Features%5D%20OR%2044017%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9738"><div><strong>Oral mucosa leukoplakia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9738</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)&#10;Click for more information.">C0023532</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A thickened white patch on the oral mucosa that cannot be rubbed off.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9738">Feature record</a> | <a href="/medgen?term=%22Oral%20mucosa%20leukoplakia%22%5BClinical%20Features%5D%20OR%209738%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)&#10;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="divPopper rprt" id="clin_83101"><div><strong>Phrynoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83101</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)&#10;Click for more information.">C0334013</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83101">Feature record</a> | <a href="/medgen?term=%22Phrynoderma%22%5BClinical%20Features%5D%20OR%2083101%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_9738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral mucosa leukoplakia</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmoplantar keratosis</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phrynoderma</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]&amp;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&amp;ncbi_uid=78556&amp;link_uid=78556" title="View MedGen record for 'Pachyonychia congenita syndrome'">Pachyonychia congenita syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1706595[DISCUI]&amp;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&amp;from_uid=353335" ref="ncbi_uid=353335">V</a></span></span><span class="TLline">Pachyonychia congenita 1</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]&amp;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&amp;from_uid=314107" ref="ncbi_uid=314107">V</a></span></span><span class="TLline"><a href="/medgen/314107" ref="tree=GTR&amp;ncbi_uid=314107&amp;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]&amp;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&amp;from_uid=811523" ref="ncbi_uid=811523">V</a></span></span><span class="TLline"><a href="/medgen/811523" ref="tree=GTR&amp;ncbi_uid=811523&amp;link_uid=811523" title="View MedGen record for 'Pachyonychia congenita 3'">Pachyonychia congenita 3</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=C3714949[DISCUI]&amp;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&amp;from_uid=811524" ref="ncbi_uid=811524">V</a></span></span><span class="TLline"><a href="/medgen/811524" ref="tree=GTR&amp;ncbi_uid=811524&amp;link_uid=811524" title="View MedGen record for 'Pachyonychia congenita 4'">Pachyonychia congenita 4</a></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 1</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/38805703">Pachyonychia congenita: pathogenesis of pain and approaches to treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy RL,
de Brito M,
O'Toole EA</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2024 Nov 22;49(12):1510-1517.
doi: 10.1093/ced/llae199.
<span class="bold">PMID: </span><a href="/pubmed/38805703" target="_blank">38805703</a></div>
<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/32236980">Successful treatment of Pachyonychia congenita with Rosuvastatin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Frommherz L,
Has C</span><br />
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
2020 Sep;34(9):e480-e482.
Epub 2020 May 27
doi: 10.1111/jdv.16393.
<span class="bold">PMID: </span><a href="/pubmed/32236980" target="_blank">32236980</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pachyonychia%20congenita%201)%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 (18)</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/37938900">The Pachyonychia Congenita Virtual Support Group Meeting: Patient Insights and Pearls.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lipner SR,
Falotico JM</span><br />
<span class="medgenPMjournal">J Am Podiatr Med Assoc</span>
2023 Sep-Oct;113(5)
doi: 10.7547/22-078.
<span class="bold">PMID: </span><a href="/pubmed/37938900" target="_blank">37938900</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
Diotallevi F,
Radi G,
Campanati A,
Offidani A</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2021 Feb 5;13(2)
doi: 10.3390/toxins13020120.
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25903724">Association of copeptin and cortisol in newly diagnosed multiple sclerosis patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baranowska-Bik A,
Kochanowski J,
Uchman D,
Litwiniuk A,
Kalisz M,
Martynska L,
Wolinska-Witort E,
Baranowska B,
Bik W</span><br />
<span class="medgenPMjournal">J Neuroimmunol</span>
2015 May 15;282:21-4.
Epub 2015 Mar 11
doi: 10.1016/j.jneuroim.2015.03.011.
<span class="bold">PMID: </span><a href="/pubmed/25903724" target="_blank">25903724</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7539673">Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McLean WH,
Rugg EL,
Lunny DP,
Morley SM,
Lane EB,
Swensson O,
Dopping-Hepenstal PJ,
Griffiths WA,
Eady RA,
Higgins C</span><br />
<span class="medgenPMjournal">Nat Genet</span>
1995 Mar;9(3):273-8.
doi: 10.1038/ng0395-273.
<span class="bold">PMID: </span><a href="/pubmed/7539673" target="_blank">7539673</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%201%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 (52)</a></div><h3 class="subhead">Diagnosis</h3>
<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,
de Brito M,
Hansen D,
Hickerson RP,
Hovnanian A,
Kaspar R,
Lane EB,
Paller AS,
Schwartz J,
Shroot B,
Teng J,
Titeux M,
Coulombe PA,
Sprecher E</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2024 Apr;144(4):748-754.
Epub 2023 Dec 15
doi: 10.1016/j.jid.2023.10.030.
<span class="bold">PMID: </span><a href="/pubmed/38099888" target="_blank">38099888</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37289311">Pachyonychia Congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan Y,
Ma DL</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2024 Mar;91(3):300-301.
Epub 2023 Jun 8
doi: 10.1007/s12098-023-04567-z.
<span class="bold">PMID: </span><a href="/pubmed/37289311" target="_blank">37289311</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24992963">Acute airway obstruction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tran CM,
Stark MW,
Jeyakumar A</span><br />
<span class="medgenPMjournal">JAMA Otolaryngol Head Neck Surg</span>
2014 Aug;140(8):775-6.
doi: 10.1001/jamaoto.2014.1120.
<span class="bold">PMID: </span><a href="/pubmed/24992963" target="_blank">24992963</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22679266">Steatocystoma multiplex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Varshney M,
Aziz M,
Maheshwari V,
Alam K,
Jain A,
Arif SH,
Gaur K</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2011 Sep 26;2011
doi: 10.1136/bcr.04.2011.4165.
<span class="bold">PMID: </span><a href="/pubmed/22679266" target="_blank">22679266</a><a href="/pmc/articles/PMC3185371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/581082">Pachyonychia congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Langford JH</span><br />
<span class="medgenPMjournal">J Am Podiatry Assoc</span>
1978 Aug;68(8):587-91.
doi: 10.7547/87507315-68-8-587.
<span class="bold">PMID: </span><a href="/pubmed/581082" target="_blank">581082</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%201%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 (133)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
Diotallevi F,
Radi G,
Campanati A,
Offidani A</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2021 Feb 5;13(2)
doi: 10.3390/toxins13020120.
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24852470">Carbon dioxide laser perforation and extirpation of steatocystoma multiplex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bakkour W,
Madan V</span><br />
<span class="medgenPMjournal">Dermatol Surg</span>
2014 Jun;40(6):658-62.
doi: 10.1111/dsu.0000000000000013.
<span class="bold">PMID: </span><a href="/pubmed/24852470" target="_blank">24852470</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16250209">Gene therapy for autosomal dominant disorders of keratin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lewin AS,
Glazer PM,
Milstone LM</span><br />
<span class="medgenPMjournal">J Investig Dermatol Symp Proc</span>
2005 Oct;10(1):47-61.
doi: 10.1111/j.1087-0024.2005.10207.x.
<span class="bold">PMID: </span><a href="/pubmed/16250209" target="_blank">16250209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10954990">Pachyonychia congenita tarda.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hannaford RS,
Stapleton K</span><br />
<span class="medgenPMjournal">Australas J Dermatol</span>
2000 Aug;41(3):175-7.
doi: 10.1046/j.1440-0960.2000.00425.x.
<span class="bold">PMID: </span><a href="/pubmed/10954990" target="_blank">10954990</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6237131">Hereditary callosities with blisters. Report of a family and review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baden HP,
Bronstein BR,
Rand RE</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
1984 Sep;11(3):409-15.
doi: 10.1016/s0190-9622(84)70182-4.
<span class="bold">PMID: </span><a href="/pubmed/6237131" target="_blank">6237131</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%201%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 (48)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30306595">Keratin 17 in disease pathogenesis: from cancer to dermatoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
Zhang S,
Wang G</span><br />
<span class="medgenPMjournal">J Pathol</span>
2019 Feb;247(2):158-165.
Epub 2018 Dec 7
doi: 10.1002/path.5178.
<span class="bold">PMID: </span><a href="/pubmed/30306595" target="_blank">30306595</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29077501">Management of Plantar Keratodermas(Lessons from Pachyonychia Congenita).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Porter RM,
Bravo AA,
Smith FJD</span><br />
<span class="medgenPMjournal">J Am Podiatr Med Assoc</span>
2017 Sep;107(5):428-435.
doi: 10.7547/16-043.
<span class="bold">PMID: </span><a href="/pubmed/29077501" target="_blank">29077501</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24852470">Carbon dioxide laser perforation and extirpation of steatocystoma multiplex.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bakkour W,
Madan V</span><br />
<span class="medgenPMjournal">Dermatol Surg</span>
2014 Jun;40(6):658-62.
doi: 10.1111/dsu.0000000000000013.
<span class="bold">PMID: </span><a href="/pubmed/24852470" target="_blank">24852470</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17914454">Single-nucleotide-specific siRNA targeting in a dominant-negative skin model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hickerson RP,
Smith FJ,
Reeves RE,
Contag CH,
Leake D,
Leachman SA,
Milstone LM,
McLean WH,
Kaspar RL</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2008 Mar;128(3):594-605.
Epub 2007 Oct 11
doi: 10.1038/sj.jid.5701060.
<span class="bold">PMID: </span><a href="/pubmed/17914454" target="_blank">17914454</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16250208">Mouse models in preclinical studies for pachyonychia congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
Roop DR</span><br />
<span class="medgenPMjournal">J Investig Dermatol Symp Proc</span>
2005 Oct;10(1):37-46.
doi: 10.1111/j.1087-0024.2005.10206.x.
<span class="bold">PMID: </span><a href="/pubmed/16250208" target="_blank">16250208</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%201%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/25903724">Association of copeptin and cortisol in newly diagnosed multiple sclerosis patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baranowska-Bik A,
Kochanowski J,
Uchman D,
Litwiniuk A,
Kalisz M,
Martynska L,
Wolinska-Witort E,
Baranowska B,
Bik W</span><br />
<span class="medgenPMjournal">J Neuroimmunol</span>
2015 May 15;282:21-4.
Epub 2015 Mar 11
doi: 10.1016/j.jneuroim.2015.03.011.
<span class="bold">PMID: </span><a href="/pubmed/25903724" target="_blank">25903724</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25620412">Keratins and skin disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knöbel M,
O'Toole EA,
Smith FJ</span><br />
<span class="medgenPMjournal">Cell Tissue Res</span>
2015 Jun;360(3):583-9.
Epub 2015 Jan 27
doi: 10.1007/s00441-014-2105-4.
<span class="bold">PMID: </span><a href="/pubmed/25620412" target="_blank">25620412</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17914454">Single-nucleotide-specific siRNA targeting in a dominant-negative skin model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hickerson RP,
Smith FJ,
Reeves RE,
Contag CH,
Leake D,
Leachman SA,
Milstone LM,
McLean WH,
Kaspar RL</span><br />
<span class="medgenPMjournal">J Invest Dermatol</span>
2008 Mar;128(3):594-605.
Epub 2007 Oct 11
doi: 10.1038/sj.jid.5701060.
<span class="bold">PMID: </span><a href="/pubmed/17914454" target="_blank">17914454</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16250208">Mouse models in preclinical studies for pachyonychia congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
Roop DR</span><br />
<span class="medgenPMjournal">J Investig Dermatol Symp Proc</span>
2005 Oct;10(1):37-46.
doi: 10.1111/j.1087-0024.2005.10206.x.
<span class="bold">PMID: </span><a href="/pubmed/16250208" target="_blank">16250208</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7539673">Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McLean WH,
Rugg EL,
Lunny DP,
Morley SM,
Lane EB,
Swensson O,
Dopping-Hepenstal PJ,
Griffiths WA,
Eady RA,
Higgins C</span><br />
<span class="medgenPMjournal">Nat Genet</span>
1995 Mar;9(3):273-8.
doi: 10.1038/ng0395-273.
<span class="bold">PMID: </span><a href="/pubmed/7539673" target="_blank">7539673</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%201%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 (55)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/33562846">Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martina E,
Diotallevi F,
Radi G,
Campanati A,
Offidani A</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2021 Feb 5;13(2)
doi: 10.3390/toxins13020120.
<span class="bold">PMID: </span><a href="/pubmed/33562846" target="_blank">33562846</a><a href="/pmc/articles/PMC7915854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31074523">A systematic review of reported cases of pachyonychia congenita tarda.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tatiane A,
Slape D,
Lawless R,
Frew JW</span><br />
<span class="medgenPMjournal">Clin Exp Dermatol</span>
2019 Aug;44(6):606-612.
Epub 2019 May 10
doi: 10.1111/ced.13980.
<span class="bold">PMID: </span><a href="/pubmed/31074523" target="_blank">31074523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21958358">Eruptive vellus hair cysts: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torchia D,
Vega J,
Schachner LA</span><br />
<span class="medgenPMjournal">Am J Clin Dermatol</span>
2012 Feb 1;13(1):19-28.
doi: 10.2165/11589050-000000000-00000.
<span class="bold">PMID: </span><a href="/pubmed/21958358" target="_blank">21958358</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pachyonychia%20congenita%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
</div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
<div class="rightCol mgCol">
<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1706595%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
<li><a href="/gtr/tests?term=C1706595%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1706595%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
</ul></div>
</div>
<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=167200" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pachyonychia%20congenita%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_121">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pachyonychia%20congenita%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Pachyonychia%20congenita%201%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=148067" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3868[geneid]" target="_blank">View KRT16 variations in ClinVar</a></li><li><a href="/nuccore/194473712" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=167200" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/pachyonychia_congenita_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Pachyonychia%20congenita%201" 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/15102/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<li>
<a href="/pubmed/20301457" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
</li>
<li>
<a href="/pubmed/clinical?term=Pachyonychia%20congenita%201" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Pachyonychia%20congenita%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=353335" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=353335" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1706595[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1706595[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&amp;from_uid=353335" ref="log$=recordlinks">MeSH</a>
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&amp;from_uid=353335" ref="log$=recordlinks">NCBI Bookshelf</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
</li>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=353335" ref="log$=recordlinks">OMIM</a>
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&amp;from_uid=353335" ref="log$=recordlinks">OMIM(Genes)</a>
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=353335" ref="log$=recordlinks">PMC Articles</a>
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=353335" ref="log$=recordlinks">PubMed</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&amp;from_uid=353335" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&amp;from_uid=353335" ref="log$=recordlinks">PubMed (GeneReviews)</a>
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&amp;from_uid=353335" ref="log$=recordlinks">PubMed (OMIM)</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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