{"orpha":412189,"name":"Epidermolysis bullosa simplex due to exophilin 5 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS due to exophilin 5 deficiency"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412189/","orphanet_url":"https://www.orpha.net/en/disease/detail/412189","names":{"fr":{"name":"Epidermolyse bulleuse simple par déficit en exophiline 5","synonyms":["EBS par déficit en exophiline 5"],"definition":"Épidermolyse bulleuse simplex rare et héréditaire caractérisée par des croûtes cornéennes généralisées, induites par un traumatisme et des cloques intermittentes, parfois associées à des érosions, qui donnent lieu à une légère cicatrice et une hyperpigmentation post-inflammatoire. Les signes cliniques disparaissent avec l'âge."},"de":{"name":"Epidermolysis bullosa simplex durch Exophilin 5-Mangel","synonyms":["EBS durch Exophilin 5-Defizienz"],"definition":"Eine hereditäre Form der Epidermolysis bullosa simplex, die durch milde, generalisierte, traumabedingte Schuppenkrusten und intermittierende Blasenbildung, manchmal in Kombination mit Erosionen, gekennzeichnet ist und sich mit leichter Narbenbildung und postinflammatorischer Hyperpigmentierung erholt. Die klinischen Symptome verbessern sich mit zunehmendem Alter."},"es":{"name":"Epidermólisis ampollosa simple por deficiencia de exofilina 5","synonyms":["EBS por deficiencia de exofilina 5","Epidermólisis bullosa simple por deficiencia de exofilina 5"],"definition":"Es una epidermólisis ampollosa simple, poco frecuente y hereditaria, caracterizada por costras escamosas leves y generalizadas inducidas por traumatismos y ampollas intermitentes, en ocasiones combinadas con erosiones, que curan con una ligera cicatrización e hiperpigmentación posinflamatoria. Los síntomas clínicos mejoran con la edad."},"it":{"name":"Epidermolisi bollosa semplice da deficit di exofilina 5","synonyms":["EBS da deficit di exofilina 5"],"definition":"Si tratta di un'epidermolisi bollosa semplice ereditaria rara, caratterizzata da croste desquamative lievi e generalizzate indotte dai traumi e da vesciche intermittenti, occasionalmente associate ad erosione, che guariscono lasciando piccole cicatrici ed iperpigmentazione post-infiammatoria. I segni clinici migliorano con l'età."},"nl":{"name":"Epidermolysis bullosa simplex door exofiline-5-deficiëntie","synonyms":["EBS door exofiline-5-deficiëntie"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa simplex, gekarakteriseerd door milde, gegeneraliseerde, door trauma geïnduceerde schilferende korsten en intermitterende blaarvorming, soms gecombineerd met erosies, die herstellen met lichte littekenvorming en postinflammatoire hyperpigmentatie. Klinische symptomen verbeteren met het ouder worden."},"pt":{"name":"Epidermólise bolhosa simples por deficiência de exofilina 5"},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka spowodowana niedoborem egzofiliny 5","synonyms":["EBS due to exophilin 5 deficiency"],"definition":"*Postać prosta pęcherzowego oddzielania się naskórka spowodowana niedoborem egzofiliny 5 jest rzadką, dziedziczną, prostą postacią pęcherzowego oddzielania się naskórka w warstwie podstawnej, która charakteryzuje się powstawaniem pod wpływem urazu łagodnych, uogólnionych łuskowatych strupów i okresowych pęcherzy, którym czasami towarzyszą nadżerki i krwawienie i które ustępują z pozostawieniem niewielkich blizn i przebarwień pozapalnych. Objawy kliniczne ustępują wraz z wiekiem."},"cs":{"name":"Epidermolysis bullosa simplex způsobená deficitem exophilinu","synonyms":["EBS-AR exophilin 5"]},"uk":{"name":"Простий бульозний епідермоліз, зумовлений дефіцитом екзофіліну 5","synonyms":["ПБЕ внаслідок дефіциту екзофіліну 5"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age."},"zh":{"name":"exophilin5缺陷导致的单纯型大疱性表皮松解","synonyms":["EBS-AR 外泌素5"],"definition":"由于外泌素5缺乏引起的单纯型大疱性表皮松解症是一种罕见的，遗传性的，基底单纯型大疱性表皮松解症，其特征为轻度，全身性的外伤导致的鳞屑和间歇性起泡，有时合并糜烂和出血，并有轻微的疤痕和发炎后色素沉着。临床症状随着年龄的增长而改善。"},"tr":{"name":"Ekzofilin 5 eksikliğine bağlı epidermolizis bülloza simpleks","synonyms":["EBS-AR eksofilin 5"]}},"xrefs":[{"source":"OMIM","code":"615028","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1267488538"},{"source":"MONDO","code":"0014014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750918","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"EXPH5","name":"exophilin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23176819[PMID]","hgnc":"30578","ensembl":"ENSG00000110723","omim":"612878","loci":["11q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24690439[PMID]_23176819[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24690439[PMID]_23176819[PMID]"}],"phenotypes":null}