{"orpha":595356,"name":"Localized dystrophic epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Localized DEB"],"definition":"A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-595356/","orphanet_url":"https://www.orpha.net/en/disease/detail/595356","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique localisée","synonyms":["EBD localisée"],"definition":"Forme localisée d'épidermolyse bulleuse dystrophique caractérisée par la présence de bulles, principalement limitée aux mains et aux pieds (forme acrale) ou à la région prétibiale. Une dystrophie ou une perte des ongles est courante et peut être la seule présentation de la maladie (forme unguéale isolée)."},"de":{"name":"Epidermolysis bullosa, dystrophe lokalisierte","synonyms":["DEB, lokalisierte"],"definition":"Eine lokalisierte Form der dystrophen Epidermolysis bullosa, die durch Blasen gekennzeichnet ist, die hauptsächlich an Händen und Füßen (akrale Form) oder im Bereich des Schambeins (prätibiale Form) auftreten. Nageldystrophie oder Nagelverlust ist häufig und kann ein isolierter Befund sein (nur Nagelform)."},"es":{"name":"Epidermólisis ampollosa distrófica localizada","synonyms":["EAD localizada"],"definition":"Es una forma localizada de epidermólisis ampollosa distrófica caracterizada por ampollas que se localizan principalmente en las manos y los pies (forma acral) o a la región pretibial (forma pretibial). La distrofia ungueal o pérdida de uñas es común y puede ser un hallazgo aislado (sólo ungueal)."},"it":{"name":"Epidermolisi bollosa distrofica localizzata","synonyms":["DEB localizzata"],"definition":"Si tratta di una forma localizzata di epidermolisi bollosa distrofica, caratterizzata da vesciche che interessano per lo più le mani e i piedi (forma acrale) o la regione pretibiale (forma pretibiale). La distrofia o la perdita delle unghie è comune e può essere l'unico segno clinico (forma esclusivamente ungueale)."},"nl":{"name":"Gelokaliseerde dystrofische epidermolysis bullosa","synonyms":["Gelokaliseerde DEB"],"definition":"Een gelokaliseerde vorm van dystrofische epidermolysis bullosa, gekenmerkt door blaren die hoofdzakelijk beperkt blijven tot handen en voeten (acrale vorm) of het pretibiale gebied (pretibiale vorm). Dystrofie of verlies van nagels is gangbaar, en kan een geïsoleerde bevinding zijn (vorm van de ziekte met aantasting van alleen nagels)."},"pt":{"name":"Epidermólise bolhosa distrófica localizada","synonyms":["DEB localizada"],"definition":"Forma localizada de epidermólise bolhosa distrófica caracterizada por vesículas localizadas principalmente nas mãos e pés (forma acral) ou na região pré-tibial (forma pré-tibial). A distrofia ou perda ungueal é comum e poderá constituir um achado isolado (forma ungueal apenas)."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka dystroficzne, postać zlokalizowana","synonyms":["Localized DEB"]},"cs":{"name":"Lokalizovaná dystrofická epidermolysis bullosa","synonyms":["Localized DEB"]},"uk":{"name":"Локалізований дистрофічний бульозний епідермоліз","synonyms":["Локалізований ДЕБ"],"definition":"A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form)."},"zh":{"name":"Localized dystrophic epidermolysis bullosa","synonyms":["Localized DEB"]},"tr":{"name":"Localized dystrophic epidermolysis bullosa","synonyms":["Localized DEB"]}},"xrefs":[{"source":"OMIM","code":"131850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607523","qualifier":"BTNT","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0474885","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":[{"orpha":158673,"name":"Localized dystrophic epidermolysis bullosa, acral form","type":"Clinical subtype"},{"orpha":158676,"name":"Localized dystrophic epidermolysis bullosa, nails only","type":"Clinical subtype"},{"orpha":79410,"name":"Localized dystrophic epidermolysis bullosa, pretibial form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":79410,"name":"Localized dystrophic epidermolysis bullosa, pretibial form"}},{"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"],"via":{"orpha":158673,"name":"Localized dystrophic epidermolysis bullosa, acral form"}},{"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"],"via":{"orpha":158676,"name":"Localized dystrophic epidermolysis bullosa, nails only"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"32017015[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"32017015[PMID]_ORPHANET"}],"phenotypes":null}