{"orpha":158681,"name":"Epidermolysis bullosa simplex with circinate migratory erythema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS with circinate migratory erythema","EBS-migr"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158681/","orphanet_url":"https://www.orpha.net/en/disease/detail/158681","names":{"fr":{"name":"Epidermolyse bulleuse simple avec érythème circiné migratoire","synonyms":["EBS avec érythème circiné migratoire","EBS-migr"],"definition":"Epidermolyse bulleuse simple héréditaire et rare, caractérisée par des zones d'érythème en bande, avec de multiples vésicules et de petites bulles que l'on observe sur le bord de l'érythème à mesure de son expansion. Les lésions apparaissent sur les membres et le tronc, et se résorbent en laissant une pigmentation marron sans cicatrice. Aucune atteinte extracutanée n'est observée. La maladie se déclare généralement à la naissance."},"de":{"name":"Epidermolysis bullosa simplex mit ringförmigem Erythema migrans","synonyms":["EBS-migr"],"definition":"Eine hereditäre Form der Epidermolysis bullosa simplex, die durch gürtelartige Erythemabereiche mit multiplen Bläschen und kleinen Blasen am fortschreitenden Rand des Erythems gekennzeichnet ist. Die Läsionen treten an den Gliedmaßen und am Rumpf auf und heilen mit brauner Pigmentierung, aber ohne Narbenbildung ab. Eine extrakutane Beteiligung ist nicht vorhanden. Die Krankheit beginnt in der Regel bei der Geburt."},"es":{"name":"Epidermólisis ampollosa simple con eritema migratorio circinado","synonyms":["EBS con eritema migratorio circinado","Epidermólisis bullosa simple con eritema migratorio circinado"],"definition":"Es una epidermólisis ampollosa simple poco frecuente y hereditaria caracterizada por zonas de eritema en banda con múltiples vesículas y pequeñas ampollas en el borde de avance del eritema. Las lesiones se producen en las extremidades y el tronco y curan con una pigmentación marrón pero sin cicatrización. La afectación extracutánea está ausente. La enfermedad suele presentarse al nacimiento."},"it":{"name":"Epidermolisi bollosa semplice con eritema migrante circinato","synonyms":["EBS con eritema migrante circinato","EBS-migr"],"definition":"Si tratta di un'epidermolisi bollosa semplice ereditaria rara, caratterizzata da zone eritematose ''a cintura'' con vescicole multiple e piccole vesciche ai bordi dell'eritema. Le lesioni si localizzano sugli arti e sul tronco, e guariscono lasciando una pigmentazione marrone, in assenza di cicatrici. Non è presente un interessamento extracutaneo. In genere la malattia è congenita."},"nl":{"name":"Epidermolysis bullosa simplex met circinair migrerend erytheem","synonyms":["EBS-migr","EBS met circinair migrerend erytheem"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa simplex, gekenmerkt door riem-achtige gebieden van erytheem met multipele vesikels en kleine blaren aan de voortschrijdende rand van het erytheem. De laesies komen voor op ledematen en romp, en genezen met bruine pigmentatie maar zonder littekenvorming. Extracutane betrokkenheid is afwezig. De ziekte vangt doorgaans aan bij de geboorte."},"pt":{"name":"Epidermólise bolhosa simples com eritema migratório circinado","synonyms":["EBS-migr"],"definition":"A epidermólise bolhosa simples com eritema circinado migratório (EBS-migr) é um subtipo basal de epidermólise bolhosa simples (EBS, consulte este termo), caracterizado por áreas em cinto de eritema com múltiplas vesículas e pequenas bolhas na borda do eritema"},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka z wędrującym rumieniem obrączkowatym","synonyms":["Postać prosta pęcherzowego oddzielania się naskórka-wędrujący rumień"]},"cs":{"name":"Prostá bulózní epidermolýza s circinárním migrujícím erytémem","synonyms":["EBS-migr"]},"uk":{"name":"Простий бульозний епідермоліз з кільцеподібною мігруючою еритемою","synonyms":["ЕБС з циркулярною мігруючою еритемою","EBS-migr"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth."},"zh":{"name":"单纯大疱性表皮松懈症伴可迁移性环状红斑","synonyms":["EBS with circinate migratory erythema","EBS-migr"],"definition":"单纯性大疱性表皮松解症伴环状迁移性红斑(EBS-MIGR)是单纯性大疱性表皮松解症(EBS，见该词条)的一种基本亚型，其特征是红斑呈带状分布，且红斑前缘有多个小水泡。"},"tr":{"name":"Epidermolizis bülloza simpleks, dolaşımda gezici eritemli","synonyms":["EBS-migr"]}},"xrefs":[{"source":"OMIM","code":"609352","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":"1778785415"},{"source":"MONDO","code":"0012258","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836284","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":"KRT5","name":"keratin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12925204[PMID]","hgnc":"6442","ensembl":"ENSG00000186081","omim":"148040","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-19","source":"27730678[PMID]_31965605[PMID]_12925204[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031045","label":"Acral blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031180","label":"Erythema migrans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003341","label":"Junctional split","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007585","label":"Skin fragility with non-scarring blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007599","label":"Generalized reticulate brown pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012221","label":"Pretibial blistering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Excluded (0%)","criteria":null}]}}