{"orpha":79411,"name":"Self-improving dystrophic epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Self-improving DEB","Transient bullous dermolysis of the newborn"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79411/","orphanet_url":"https://www.orpha.net/en/disease/detail/79411","names":{"fr":{"name":"Dermolyse bulleuse transitoire du nouveau-né","synonyms":["EBD à rémission spontanée","Epidermolyse bulleuse dystrophique à rémission spontanée"],"definition":"Épidermolyse bulleuse dystrophique (EBD) rare caractérisée par la formation généralisée des cloques à la naissance, régressant généralement entre 6 et 24 premiers mois de la vie."},"de":{"name":"Epidermolysis bullosa, dystrophe, selbstheilende Form","synonyms":["DEB, selbstheilende","Dermolyse, bullöse transiente, des Neugeborenen"],"definition":"Eine seltene Form der dystrophen Epidermolysis bullosa (DEB), die durch eine generalisierte Blasenbildung bei der Geburt gekennzeichnet ist, die sich normalerweise innerhalb der ersten 6 bis 24 Lebensmonate zurückbildet."},"es":{"name":"Epidermólisis ampollosa distrófica autocurativa","synonyms":["Epidermólisis bullosa distrófica autocurativa","DEB autocurativa","Dermólisis ampollosa transitoria del recién nacido"],"definition":"Es una epidermólisis ampollosa distrófica (EAD) poco frecuente caracterizada por ampollas generalizadas al nacer que, por lo general, desaparecen dentro de los primeros 6 a 24 meses de vida."},"it":{"name":"Epidermolisi bollosa distrofica con miglioramento spontaneo","synonyms":["DEB con miglioramento spontaneo","Dermolisi bollosa transitoria del neonato"],"definition":"Si tratta di un'epidermolisi bollosa distrofica (DEB) rara, caratterizzata da vesciche congenite generalizzate, che in genere regrediscono nei primi 6-24 mesi di vita."},"nl":{"name":"Zelfhelende dystrofische epidermolysis bullosa","synonyms":["Transiënte bulleuze dermolyse van neonaat","Zelfhelende DEB"],"definition":"Een zeldzame dystrofische epidermolysis bullosa (DEB), gekenmerkt door gegeneraliseerde blaarvorming bij de geboorte die doorgaans afneemt binnen de eerste 6 tot 24 levensmaanden."},"pt":{"name":"Epidermólise bolhosa distrófica regenerativa","synonyms":["DEB regenerativa","Dermólise bolhosa transitória do recém-nascido"],"definition":"Epidermólise bolhosa distrófica rara (DEB) caracterizada por vesículas generalizadas ao nascimento que geralmente regridem nos primeiros 6 a 24 meses de vida."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka dystroficzne samopoprawiające się","synonyms":["Pęcherzowe oddzielanie się naskórka dystroficzne, pęcherzowa dermoliza noworodkowa"]},"cs":{"name":"Tranzientní bulózní dermolýza novorozenců","synonyms":["DEB-BDN","DEB, bulózní dermolýza novorozenců"]},"uk":{"name":"Самовідновлювальний дистрофічний бульозний епідермоліз","synonyms":["ДБЕ, що самопокращується","Транзиторний бульозний дермоліз новонароджених"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life."},"zh":{"name":"新生儿暂时性大疱性皮肤松解症","synonyms":["DEB，新生儿大疱性表皮松解症"]},"tr":{"name":"Yenidoğanın geçici büllöz dermolizisi","synonyms":["DEB-BDN","DEB, yenidoğanın büllöz dermolizisi"]}},"xrefs":[{"source":"OMIM","code":"131705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"423849200"},{"source":"MONDO","code":"0007548","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536979","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851573","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":303,"name":"Dystrophic epidermolysis bullosa","classifications":[147,152,156,187,233]}],"children":[],"genes":[{"symbol":"COL7A1","name":"collagen type VII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"2214","ensembl":"ENSG00000114270","omim":"120120","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":52.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2020-06-22","source":"20301481[PMID]_25639640[PMID]_17501948[PMID]_24690439[PMID]_26864810[PMID]","terms":[{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009723","label":"Abnormality of the subungual region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Excluded (0%)","criteria":null}]}}