{"orpha":251393,"name":"Localized junctional epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JEB-nH loc","Junctional epidermolysis bullosa, non-Herlitz localized type","Localized JEB"],"definition":"A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251393/","orphanet_url":"https://www.orpha.net/en/disease/detail/251393","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle localisée","synonyms":["EBJ localisée","EBJ-nH loc","Epidermolyse bulleuse jonctionnelle type non-Herlitz localisé"],"definition":"Forme d'épidermolyse bulleuse jonctionnelle caractérisée par la formation, pendant la période néonatale, de bulles localisées, et par des ongles dystrophiques ou absents. Les bulles cutanées se limitent principalement aux mains, aux pieds, à la partie inférieure des jambes et au visage. Les autres manifestations peuvent inclure une hypoplasie de l'émail dentaire et un risque accru de caries."},"de":{"name":"Epidermolysis bullosa, junktionale lokalisierte","synonyms":["Epidermolysis bullosa, junktionale lokalisierte, non-Herlitz Typ","JEB, lokalisierte","JEB-nH loc"],"definition":"Eine Form der junktionalen Epidermolysis bullosa, die durch eine im Neugeborenenalter einsetzende, lokalisierte Blasenbildung und dystrophische oder fehlende Nägel gekennzeichnet ist. Die Hautblasenbildung beschränkt sich hauptsächlich auf Hände, Füße, Unterschenkel und Gesicht. Weitere Befunde können eine Hypoplasie des Zahnschmelzes und ein erhöhtes Auftreten von Karies sein."},"es":{"name":"Epidermólisis ampollosa juntural localizada","synonyms":["Epidermólisis ampollosa juntural localizada tipo no Herlitz","Epidermólisis bullosa juntural localizada","JEB localizada"],"definition":"Es una forma de epidermólisis ampollosa juntural que se caracteriza por la aparición neonatal de ampollas localizadas, y uñas distróficas o ausentes. La formación de ampollas en la piel suele limitarse principalmente a manos, pies, la zona inferior de las piernas y la cara. Otros hallazgos adicionales pueden incluir hipoplasia del esmalte dental y una mayor incidencia de caries."},"it":{"name":"Epidermolisi bollosa giunzionale localizzata","synonyms":["Epidermolisi bollosa giunzionale, tipo non-Herlitz localizzato","JEB localizzata","JEB-nH loc"],"definition":"Si tratta di una forma di epidermolisi bollosa giunzionale, caratterizzata da vesciche localizzate ad esordio neonatale, e distrofia o agenesia delle unghie. Le vesciche cutanee interessano prevalentemente le mani, i piedi, la porzione inferiore delle gambe e il viso. I pazienti possono presentare anche ipoplasia dello smalto dei denti e una maggiore incidenza delle carie."},"nl":{"name":"Gelokaliseerde junctionele epidermolysis bullosa","synonyms":["Gelokaliseerde JEB","JEB-nH loc","Junctionele epidermolysis bullosa, niet-Herlitz gelokaliseerd type"],"definition":"Een vorm van junctionele epidermolysis bullosa, gekenmerkt door neonatale aanvang van gelokaliseerde blaarvorming, en dystrofische of afwezige nagels. Blaarvorming blijft hoofdzakelijk beperkt tot huid van handen, voeten, onderbenen, en aangezicht. Mogelijke bijkomende bevindingen zijn onder meer hypoplasie van tandglazuur en verhoogde incidentie van cariës."},"pt":{"name":"Epidermólise bolhosa juncional localizada","synonyms":["JEB localizada"],"definition":"Forma de epidermólise bolhosa juncional caracterizada pelo início neonatal de bolhas localizadas e unhas distróficas ou ausentes. A formação de bolhas na pele limita-se principalmente às mãos, pés, pernas e rosto. Os achados adicionais podem incluir hipoplasia do esmalte dentário e um aumento da incidência de cáries."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka zlokalizowane łączące","synonyms":["JEB-nH loc","Junctional epidermolysis bullosa, non-Herlitz localized type","Localized JEB"]},"cs":{"name":"Lokalizovaná junkční epidermolysis bullosa, non-Herlitzův typ","synonyms":["JEB-nH loc"]},"uk":{"name":"Локалізований межовий бульозний епідермоліз","synonyms":["JEB-nH loc","Бульозний епідермоліз суглобів, не-Герліц-локалізований тип","Локалізований JEB"],"definition":"A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries."},"zh":{"name":"局限性结合型大疱性表皮松解症，非herlitz型","synonyms":["JEB-nH loc","Junctional epidermolysis bullosa, non-Herlitz localized type","Localized JEB"],"definition":"局限性大疱性交界性表皮松解症是一种非Herlitz交界性大疱性表皮松解症(Jeb-NH，见该词条)，其特征是局部起泡、营养不良或指甲缺失。"},"tr":{"name":"Lokalize kavşak epidermolizis bülloza, Herlitz olmayan tip","synonyms":["JEB-nH loc"]}},"xrefs":[{"source":"OMIM","code":"226650","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1484617605"},{"source":"MONDO","code":"0016673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0474889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":305,"name":"Junctional epidermolysis bullosa","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"COL17A1","name":"collagen type XVII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2194","ensembl":"ENSG00000065618","omim":"113811","loci":["10q25.1"]},{"symbol":"ITGB4","name":"integrin subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6158","ensembl":"ENSG00000132470","omim":"147557","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-24","source":"28599695[PMID]_20301304[PMID]_2052329[PMID]_7706760[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031045","label":"Acral blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004529","label":"Atrophic, patchy alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009722","label":"Dental enamel pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032156","label":"Skin detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Very rare (<4-1%)","criteria":null}]}}