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<meta name="keywords" content="C0268374, adult junctional epidermolysis bullosa, col17a1-related junctional epidermolysis bullosa, disease or syndrome, epidermolysis bullosa junctionalis, disentis type, epidermolysis bullosa junctionalis, non-herlitz type, epidermolysis bullosa junctionalis, progressive, epidermolysis bullosa junctionalis, severe nonlethal, epidermolysis bullosa, generalised atrophic benign, epidermolysis bullosa, generalized atrophic benign, epidermolysis bullosa, junctional 1a, generalized intermediate, epidermolysis bullosa, junctional 1a, intermediate, epidermolysis bullosa, junctional 1a, non-herlitz type, epidermolysis bullosa, junctional, localisata variant, epidermolysis bullosa, junctional, non-herlitz type, epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant, jeb-i, jeb-nh, jeb1a, jen-nh, junctional epidermolysis bullosa inversa, junctional epidermolysis bullosa non-herlitz type, junctional epidermolysis bullosa, non-herlitz type, lamb3, 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="Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=82798
ConceptID=C0268374
-->
<!--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/NBK1125/bin/ebj-Image002.gif" src-large="/books/NBK1125/bin/ebj-Image002.jpg" /></a><br /><a href="/books/NBK1125/figure/ebj.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1125/bin/ebj-Image001.gif" src-large="/books/NBK1125/bin/ebj-Image001.jpg" /></a><br /><a href="/books/NBK1125/figure/ebj.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Junctional epidermolysis bullosa, non-Herlitz type<span class="h1sub">(JEB1A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82798</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.">C0268374</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>Adult junctional epidermolysis bullosa; COL17A1-Related Junctional Epidermolysis Bullosa; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; Epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Junctional epidermolysis bullosa non-Herlitz type (724225008)</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="LAMB3 - ID: 3914 - NCBI Gene" href="/gene/3914" class="medgenPMinfo">LAMB3</a> (1q32.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0009180" target="_blank">MONDO:0009180</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/226650" target="_blank">226650</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
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<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 />Intermediate junctional epidermolysis bullosa 1A (JEB1A) is an autosomal recessive blistering disease of skin and mucous membranes. Generalized trauma-induced blistering occurs from birth. Blistering is less severe than in severe JEB (see 226700), usually without the tendency for developing chronic granulation tissue. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nail dystrophy or loss and dental enamel defects are present. Scarring or nonscarring alopecia and diffuse hair loss may occur (summary by Has et al., 2020). Blistering does not affect the life span of affected individuals (Pulkkinen and Uitto, 1998; Sybert, 2010).&#13;
Genetic Heterogeneity of Junctional Epidermolysis Bullosa&#13;
Another form of JEB that is caused by mutation in the LAMB3 gene is severe JEB1B (226700).&#13;
Forms of JEB caused by mutation in the LAMA3 gene (600805) are intermediate JEB2A (619783), severe JEB2B (619784), and laryngoonychocutaneous JEB2C (245660).&#13;
Forms of JEB caused by mutation in the LAMC2 gene (150292) are intermediate JEB3A (619785) and severe JEB3B (619786).&#13;
Intermediate JEB4 (619787) is caused by mutation in the COL17A1 gene (113811).&#13;
Forms of JEB caused by mutation in the ITGB4 gene (147557) are intermediate JEB5A (619816) and JEB with pyloric atresia (JEB5B; 226730).&#13;
Another form of JEB that includes pyloric atresia (JEB6; 619817) is caused by mutation in the ITGA6 gene (147556).&#13;
JEB with interstitial lung disease and nephrotic syndrome (JEB7; 614748), also known as interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB), is caused by mutation in the ITGA3 gene (605025).&#13;
Reviews&#13;
Pulkkinen and Uitto (1999) reviewed the pathophysiology and phenotypic and genetic heterogeneity of epidermolysis bullosa.  <a target="_blank" href="http://www.omim.org/entry/226650">http://www.omim.org/entry/226650</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes.<br /><br />JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.<br /><br />The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.<br /><br />Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa">https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa</a></div></div>
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<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_346478"><div><strong>Palmar hyperhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346478</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.">C1856953</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346478">Feature record</a> | <a href="/medgen?term=%22Palmar%20hyperhidrosis%22%5BClinical%20Features%5D%20OR%20346478%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98041"><div><strong>Camptodactyly of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98041</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.">C0409348</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98041">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%20of%20finger%22%5BClinical%20Features%5D%20OR%2098041%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8288"><div><strong>Carious teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8288</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0011334</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8288">Feature record</a> | <a href="/medgen?term=%22Carious%20teeth%22%5BClinical%20Features%5D%20OR%208288%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3730"><div><strong>Enamel hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3730</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0011351</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental hypoplasia of the dental enamel.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3730">Feature record</a> | <a href="/medgen?term=%22Enamel%20hypoplasia%22%5BClinical%20Features%5D%20OR%203730%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_43794"><div><strong>Hypodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43794</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.">C0020608</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400.&#13; Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978).&#13; Genetic Heterogeneity of Selective Tooth Agenesis&#13; Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13.&#13; A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216).&#13; Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.&#13; Genotype-Phenotype Correlations&#13; Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43794">Feature record</a> | <a href="/medgen?term=%22Hypodontia%22%5BClinical%20Features%5D%20OR%2043794%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_208888"><div><strong>Oral mucosal blisters</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208888</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.">C0853945</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Blisters arising in the mouth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208888">Feature record</a> | <a href="/medgen?term=%22Oral%20mucosal%20blisters%22%5BClinical%20Features%5D%20OR%20208888%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341658"><div><strong>Plantar hyperkeratosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341658</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.">C1856954</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperkeratosis affecting the sole of the foot.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341658">Feature record</a> | <a href="/medgen?term=%22Plantar%20hyperkeratosis%22%5BClinical%20Features%5D%20OR%20341658%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341661"><div><strong>Fragile nails</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341661</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856963</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Nails that easily break.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341661">Feature record</a> | <a href="/medgen?term=%22Fragile%20nails%22%5BClinical%20Features%5D%20OR%20341661%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_350774"><div><strong>Patchy alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350774</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.">C1862862</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350774">Feature record</a> | <a href="/medgen?term=%22Patchy%20alopecia%22%5BClinical%20Features%5D%20OR%20350774%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_412159"><div><strong>Abnormal blistering of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412159</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.">C2132198</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/412159">Feature record</a> | <a href="/medgen?term=%22Abnormal%20blistering%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20412159%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_8288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carious teeth</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enamel hypoplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypodontia</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_346478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palmar hyperhidrosis</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_412159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal blistering of the skin</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fragile nails</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_208888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral mucosal blisters</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350774" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patchy alopecia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plantar hyperkeratosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly of finger</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=C0079301[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=86898">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=86898" target="_blank" href="/omim/226650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1125/" ref="ncbi_uid=86898">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=86898" ref="ncbi_uid=86898">V</a></span></span><span class="TLline"><a href="/medgen/86898" ref="tree=GTR&amp;ncbi_uid=86898&amp;link_uid=86898" title="View MedGen record for 'Junctional epidermolysis bullosa'">Junctional epidermolysis bullosa</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=C0079683[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=36328">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=36328" target="_blank" href="/omim/150310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1125/" ref="ncbi_uid=36328">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=36328" ref="ncbi_uid=36328">V</a></span></span><span class="TLline"><a href="/medgen/36328" ref="tree=GTR&amp;ncbi_uid=36328&amp;link_uid=36328" title="View MedGen record for 'Junctional epidermolysis bullosa gravis of Herlitz'">Junctional epidermolysis bullosa gravis of Herlitz</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=C0268374[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82798">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82798" target="_blank" href="/omim/150310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1125%20OR%20NBK1304)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=82798">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82798" ref="ncbi_uid=82798">V</a></span></span><span class="TLline">Junctional epidermolysis bullosa, non-Herlitz type</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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/11449" ref="tree=MeSH" title="MedGen record for Congenital anomaly of skin">Congenital anomaly of skin</a></span><ul><li><span class="TLline"><a href="/medgen/41832" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa">Epidermolysis bullosa</a></span><ul><li><span class="TLline"><a href="/medgen/86898" ref="tree=MeSH" title="MedGen record for Junctional epidermolysis bullosa">Junctional epidermolysis bullosa</a></span><ul><li><span class="matched_ds">Junctional epidermolysis bullosa, non-Herlitz type</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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/21624701">Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuen WY,
Jonkman MF</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2011 Oct;65(4):780-789.
Epub 2011 May 31
doi: 10.1016/j.jaad.2010.07.006.
<span class="bold">PMID: </span><a href="/pubmed/21624701" target="_blank">21624701</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%20epidermolysis%20bullosa%2C%20non-Herlitz%20type%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/21624701">Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuen WY,
Jonkman MF</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2011 Oct;65(4):780-789.
Epub 2011 May 31
doi: 10.1016/j.jaad.2010.07.006.
<span class="bold">PMID: </span><a href="/pubmed/21624701" target="_blank">21624701</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%20epidermolysis%20bullosa%2C%20non-Herlitz%20type%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/21624701">Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuen WY,
Jonkman MF</span><br />
<span class="medgenPMjournal">J Am Acad Dermatol</span>
2011 Oct;65(4):780-789.
Epub 2011 May 31
doi: 10.1016/j.jaad.2010.07.006.
<span class="bold">PMID: </span><a href="/pubmed/21624701" target="_blank">21624701</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Junctional%20epidermolysis%20bullosa%2C%20non-Herlitz%20type%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 (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<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>
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<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=C0268374%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (45)</a></li>
<li><a href="/gtr/tests?term=C0268374%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (6)</a></li>
<li><a href="/gtr/tests?term=C0268374%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (59)</a></li>
<li><a href="/gtr/tests?term=C0268374%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268374%5bDISCUI%5d" target="_blank">See all (81)</a></total></li>
</ul></div>
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