{"orpha":305,"name":"Junctional epidermolysis bullosa","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Epidermolysis bullosa atrophicans","JEB"],"definition":"A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-305/","orphanet_url":"https://www.orpha.net/en/disease/detail/305","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle","synonyms":["EBJ"],"definition":"Groupe d'épidermolyses bulleuses héréditaires caractérisées par une atteinte de la peau et des muqueuses, et définies par la formation de lésions vésiculeuses entre l'épiderme et le derme au niveau de la lamina lucida de la zone de la membrane basale cutanée et par la formation de lésions avec atrophie et/ou formation exubérante de tissu de granulation."},"de":{"name":"Epidermolysis bullosa, junktionale","synonyms":["EBJ","Epidermolysis bullosa atrophicans","JEB"],"definition":"Eine Gruppe von vererbten Epidermolysis bullosa-Erkrankungen, die durch eine Beteiligung der Haut und der Schleimhäute gekennzeichnet sind und durch die Bildung von blasenbildenden Läsionen zwischen der Epidermis und der Dermis auf der Ebene der Lamina lucida der kutanen Basalmembranzone sowie durch die Heilung von Läsionen mit Atrophie und/oder übermäßiger Bildung von Granulationsgewebe definiert sind."},"es":{"name":"Epidermólisis ampollosa juntural","synonyms":["Epidermólisis ampollosa atrófica","Epidermólisis bullosa juntural"],"definition":"Es un grupo de epidermólisis ampollosa hereditaria caracterizado por la afectación de la piel y las mucosas, y se define por la formación de lesiones ampollosas entre la epidermis y la dermis a nivel de la lámina lúcida de la zona de la membrana basal cutánea y por la cicatrización de lesiones con atrofia y/o formación de tejido de granulación exuberante."},"it":{"name":"Epidermolisi bollosa giunzionale","synonyms":["EBJ","Epidermolisi bollosa atrofica","Epidermolysis bullosa atrophicans","JEB"],"definition":"Si tratta di un gruppo di epidermolisi bollose ereditarie che interessano la cute e le mucose, caratterizzate dalla formazione di lesioni vescicali tra l'epidermide e il derma a livello della lamina lucida della zona della membrana basale cutanea; le lesioni guariscono lasciando aree atrofiche e/o tessuto di granulazione."},"nl":{"name":"Junctionele epidermolysis bullosa","synonyms":["Epidermolysis bullosa atrophicans","JEB"],"definition":"Een groep van erfelijke vormen van epidermolysis bullosa, gekenmerkt door betrokkenheid van huid en slijmvlies, en gedefinieerd door vorming van blaarvormende laesies tussen epidermis en dermis ter hoogte van lamina lucida van cutane basale membraan en door heling van laesies met atrofie en/of excessieve vorming van granulatieweefsel."},"pt":{"name":"Epidermólise bolhosa juncional","synonyms":["EBJ"],"definition":"Grupo da epidermólise bolhosa hereditária caracterizado pelo envolvimento da pele e membranas mucosas, sendo definido pela formação de lesões bolhosas entre a epiderme e a derme ao nível da lâmina lúcida da zona da membrana basal cutânea e pela cicatrização das lesões com atrofia e/ou formação de tecido de granulação exuberante."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka postać graniczna","synonyms":["Pęcherzowe oddzielanie się naskórka stadium atroficzne"]},"cs":{"name":"Junkční epidermolysis bullosa","synonyms":["EBJ","Epidermolysis bullosa atrophicans","JEB"]},"uk":{"name":"Межовий бульозний епідермоліз","synonyms":["Атрофічний бульозний епідермоліз","JEB"],"definition":"A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation."},"zh":{"name":"交界型大疱性表皮松解症","synonyms":["萎缩性大疱性表皮松解症"]},"tr":{"name":"Kavşak epidermolizis bülloza","synonyms":["EBJ","JEB","Epidermolizis bülloza atrofikanlar"]}},"xrefs":[{"source":"ICD-11","code":"EC31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1501260457"},{"source":"MONDO","code":"0017612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079301","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2152","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79361,"name":"Inherited epidermolysis bullosa","classifications":[156,187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[{"orpha":79402,"name":"Intermediate generalized junctional epidermolysis bullosa","type":"Disease"},{"orpha":306504,"name":"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome","type":"Disease"},{"orpha":79405,"name":"Junctional epidermolysis bullosa inversa","type":"Disease"},{"orpha":79403,"name":"Junctional epidermolysis bullosa with pyloric atresia","type":"Disease"},{"orpha":2407,"name":"Laryngo-onycho-cutaneous syndrome","type":"Disease"},{"orpha":79406,"name":"Late-onset junctional epidermolysis bullosa","type":"Disease"},{"orpha":231556,"name":"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome","type":"Disease"},{"orpha":251393,"name":"Localized junctional epidermolysis bullosa","type":"Disease"},{"orpha":79404,"name":"Severe generalized junctional epidermolysis bullosa","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Sweden","status":"Validated","source":"ISBN:443048517[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Ireland","status":"Validated","source":"1419751[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Finland","status":"Validated","source":"6203284[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Italy","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Australia","status":"Validated","source":"20566927[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Japan","status":"Validated","source":"2601109[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"United States","status":"Validated","source":"ISBN:801860245[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"United States","status":"Validated","source":"ISBN:801860245[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"South Africa","status":"Validated","source":"ISBN:951563203[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.93,"area":"Netherlands","status":"Validated","source":"33095945[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Netherlands","status":"Validated","source":"33095945[PMID]"}],"phenotypes":null}