{"orpha":303,"name":"Dystrophic epidermolysis bullosa","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["DEB","Dermolytic epidermolysis bullosa","Epidermolysis bullosa dystrophica"],"definition":"A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-303/","orphanet_url":"https://www.orpha.net/en/disease/detail/303","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique","synonyms":["EBD","Epidermolyse bulleuse dermolytique"],"definition":"Groupe d'épidermolyses bulleuses (EB) héréditaires caractérisées par une fragilité cutanée et muqueuse entraînant des vésicules et des ulcérations superficielles qui se développent sous la lamina densa de la membrane basale cutanée et dont la cicatrisation entraîne d'importantes cicatrices avec grains de milium. L'épidermolyse bulleuse dystrophique (DEB pour dystrophic epidermolysis bullosa) comprend quatre sous-types majeurs et plusieurs sous-types rares, les trois plus courants étant la DEB dominante intermédiaire, la DEB récessive sévère et la DEB récessive intermédiaire."},"de":{"name":"Epidermolysis bullosa, dystrophe","synonyms":["DEB","EBD","Epidermolysis bullosa dystrophica","Epidermolysis bullosa, dermolytische"],"definition":"Eine Gruppe von vererbten Epidermolysis bullosa-Erkrankungen, die durch kutane und mukosale Fragilität gekennzeichnet ist und zu Blasen und oberflächlichen Ulzerationen führt, die sich unterhalb der Lamina densa der kutanen Basalmembran entwickeln und mit erheblicher Narbenbildung und Milienbildung abheilen. Die dystrophe Epidermolysis bullosa (DEB) umfasst vier Haupttypen und mehrere seltene Subtypen, wobei die drei häufigsten die intermediär-dominante DEB, die schwere rezessive DEB und die intermediär-rezessive DEB sind."},"es":{"name":"Epidermólisis ampollosa distrófica","synonyms":["DEB","Epidermólisis ampollosa dermolítica","Epidermólisis bullosa dermolítica","Epidermólisis bullosa distrófica"],"definition":"Es un grupo de epidermólisis ampollosa (EA) hereditaria caracterizado por fragilidad cutánea y de mucosas que produce ampollas y ulceraciones superficiales que se desarrollan por debajo de la lámina densa de la membrana basal cutánea y que curan con una lesión cicatricial significativa y formación de milia. La epidermólisis ampollosa distrófica (EAD) comprende cuatro subtipos principales y varios menos comunes, siendo los tres más frecuentes la EAD dominante intermedia, la EAD recesiva grave y la EAD recesiva intermedia."},"it":{"name":"Epidermolisi bollosa distrofica","synonyms":["DEB","Epidermolisi bollosa dermolitica"],"definition":"Si tratta di un gruppo di epidermolisi bollose (EB) ereditarie, caratterizzate da fragilità della cute e delle mucose, con la formazione di vesciche e ulcere superficiali che si sviluppano al di sotto della lamina densa della membrana basale cutanea, e che guariscono lasciando cicatrici significative e milia. L'epidermolisi bollosa distrofica (DEB) comprende quattro sottotipi principali e diversi sottotipi rari; i tre più comuni sono la DEB intermedia dominante, la DEB grave recessiva e la DEB intermedia recessiva."},"nl":{"name":"Dystrofische epidermolysis bullosa","synonyms":["DEB","Dermolytische epidermolysis bullosa","EBD","Epidermolysis bullosa dystrophica"],"definition":"Een groep van erfelijke vormen van epidermolysis bullosa (EB), gekenmerkt door fragiliteit van huid en mucosa, wat resulteert in blaren en oppervlakkige ulceraties die zich ontwikkelen onder de lamina densa van de cutane basale membraan en die helen met significante vorming van littekens en milia. Dystrofische epidermolysis bullosa (DEB) omvat vier hoofdtypes en verschillende zeldzame subtypes, waarvan de drie meest voorkomende intermediaire dominante DEB, ernstige recessieve DEB, en intermediaire recessieve DEB zijn."},"pt":{"name":"Epidermólise bolhosa distrófica","synonyms":["EBD","Epidermólise bolhosa dermolítica","Epidermólise bulhosa dermolítica"],"definition":"Grupo de epidermólise bolhosa (EB) hereditária caracterizada por fragilidade cutânea e mucosa que resulta na formação de vesículas e ulcerações superficiais que ocorrem abaixo da lâmina densa da membrana basal cutânea e cuja evolução ocorre com a formação de cicatrizes significativas e de milia. A epidermólise bolhosa distrófica (DEB) compreende quatro subtipos principais e vários raros, sendo os três mais comuns o EBD dominante intermediário, o EBD recessivo grave e o EBD recessivo intermediário."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka postać dystroficzna","synonyms":["DEB"]},"cs":{"name":"Dystrofická epidermolysis bullosa","synonyms":["DEB","Dermolytická epidermolysis bullosa","Epidermolysis bullosa dystrophica"]},"uk":{"name":"Дистрофічний бульозний епідермоліз","synonyms":["DEB","Бульозний дермолітичний епідермоліз","Бульозний дистрофічний епідермоліз"],"definition":"A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB."},"zh":{"name":"营养不良大疱性表皮松解症","synonyms":["营养不良性大疱性表皮松解症"]},"tr":{"name":"Distrofik epidermolizis bülloza","synonyms":["DEB","Dermolitik epidermolizis bülloza","Epidermolizis bülloza distrofika"]}},"xrefs":[{"source":"ICD-10","code":"Q81.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC32","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1060981106"},{"source":"MONDO","code":"0006543","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"6543","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079294","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2150","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]},{"orpha":717868,"name":"Rare skin disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[{"orpha":231568,"name":"Autosomal dominant generalized dystrophic epidermolysis bullosa","type":"Disease"},{"orpha":89842,"name":"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","type":"Disease"},{"orpha":79408,"name":"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","type":"Disease"},{"orpha":89843,"name":"Dystrophic epidermolysis bullosa pruriginosa","type":"Disease"},{"orpha":595356,"name":"Localized dystrophic epidermolysis bullosa","type":"Disease"},{"orpha":79409,"name":"Recessive dystrophic epidermolysis bullosa inversa","type":"Disease"},{"orpha":79411,"name":"Self-improving dystrophic epidermolysis bullosa","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.572,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Spain","status":"Validated","source":"23809583[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Australia","status":"Validated","source":"20566927[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"United States","status":"Validated","source":"27463098[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Romania","status":"Validated","source":"25201089[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.83,"area":"Netherlands","status":"Validated","source":"33095945[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.41,"area":"Netherlands","status":"Validated","source":"33095945[PMID]"}],"phenotypes":null}