{"orpha":231573,"name":"Congenital erosive and vesicular dermatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CEVD","Congenital erosive and vesicular dermatosis with reticulated supple scarring"],"definition":"A rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231573/","orphanet_url":"https://www.orpha.net/en/disease/detail/231573","names":{"fr":{"name":"Dermatose érosive et vésiculaire congénitale","synonyms":["Dermatose érosive et vésiculeuse congénitale avec cicatrices réticulées"],"definition":"Maladie idiopathique rare de la peau caractérisée par des érosions et des vésicules superficielles congénitales étendues (affectant souvent plus de 75 % de la surface corporelle) qui guérissent en laissant des cicatrices souples, symétriques et réticulées, entraînant fréquemment une alopécie cicatricielle et une hyperthermie et/ou une hypohidrose. Des anomalies des ongles, des troubles neurodéveloppementaux et ophtalmologiques, une atrophie de la langue et des naissances prématurées, avec ou sans antécédents de chorioamniotite, sont fréquemment associés."},"de":{"name":"Dermatose, erosive und vesikuläre, kongenital","synonyms":["CEVD","Dermatose, erosive und vesikuläre, kongenitale, mit retikulärer weicher Vernarbung"]},"es":{"name":"Dermatosis erosiva y vesicular congénita","synonyms":["CEVD","Dermatosis vesicular y erosiva congénita con cicatrización flexible reticulada"],"definition":"Es una enfermedad idiopática de la piel, poco frecuente, caracterizada por unas erosiones y vesículas superficiales, congénitas y muy extendidas (que a menudo afectan a más del 75% del cuerpo) que se curan dejando cicatrices que siguen un patrón reticulado, flexible y simétrico, que frecuentemente resulta en una alopecia cicatricial e hipertermia y/o hipohidrosis. Por lo general, también se asocian alteraciones ungueales, del neurodesarrollo y oftalmológicas, así como una atrofia lingual y parto prematuro, con o sin antecedentes de corioamnionitis."},"it":{"name":"Dermatosi vescicolare ed erosiva congenita","definition":"La dermatosi vescicolare ed erosiva congenita è una malattia cutanea idiopatica rara, caratterizzata da erosioni e vesciche superficiali diffuse congenite (che spesso interessano oltre il 75% del corpo) che, guarendo, esitano in cicatrici elastiche reticolate simmetriche, che spesso causano un'alopecia cicatriziale ed ipertermia e/o ipoidrosi. Di solito i pazienti presentano anche anomalie delle unghie, dello sviluppo neurologico e degli occhi, atrofia della lingua ed un parto pretermine, con o senza una pregressa storia di corioamnionite."},"nl":{"name":"Congenitale erosieve en vesiculaire dermatose","synonyms":["CEVD","Congenitale erosieve en vesiculaire dermatose met reticulaire soepele littekens"],"definition":"Congenitale erosieve en vesiculaire dermatose is een zeldzame, idiopathische huidziekte, en wordt gekarakteriseerd door wijdverspreide, congenitale, oppervlakkige erosies en blaasjes (vaak met betrokkenheid van meer dan 75% van het lichaam) waarvan na helen littekens overblijven met een soepel, symmetrisch, netvormig patroon en die frequent leiden tot cicatriciële alopecie en hyperthermie en/of hypohidrose. Nagelanomalieën, afwijkingen van de neurologische ontwikkeling en oftalmologische afwijkingen, atrofie van de tong, en vroeggeboorte, met of zonder voorgeschiedenis met chorioamnionitis, zijn doorgaans geassocieerd."},"pt":{"name":"Dermatose erosiva e vesicular, congénita"},"pl":{"name":"Wrodzona nadżerkowa i pęcherzykowa choroba skóry","synonyms":["CEVD","Congenital erosive and vesicular dermatosis with reticulated supple scarring"]},"cs":{"name":"Vrozená erozivní a vezikulární dermatóza","synonyms":["CEVD","Congenital erosive and vesicular dermatosis with reticulated supple scarring"]},"uk":{"name":"Вроджені ерозивні та везикулярні дерматози","synonyms":["CEVD","Вроджений ерозивний та везикулярний дерматоз з сітчастим еластичним рубцюванням"],"definition":"A rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated."},"zh":{"name":"先天性糜烂和水疱性皮肤病","synonyms":["先天性糜烂和水疱性皮肤病伴网状柔软瘢痕"],"definition":"先天性糜烂和水泡性皮肤病是一种罕见的特发性皮肤病，其特征是广泛的、先天的、表面糜烂和水泡（通常覆盖75%以上的身体），这些水疱愈合后留下柔软、对称、网状的疤痕，经常导致瘢痕性脱发、高热和/或少汗症。常见的相关因素有指甲异常、神经发育和眼异常、舌萎缩和早产（无论是否有绒毛膜羊膜炎病史）。"},"tr":{"name":"Doğumsal aşındırıcı ve veziküler dermatoz","synonyms":["CEVD","Retiküle esnek yara izi ile seyreden doğumsal eroziv ve veziküler dermatoz"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KC31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2106762282"},{"source":"MONDO","code":"0016503","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":31.0,"area":"Worldwide","status":"Validated","source":"28247410[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28247410[PMID]"}],"phenotypes":null}