{"orpha":370059,"name":"NEVADA syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nevus epidermicus verrucosus with angiodysplasia and aneurysms"],"definition":"A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370059/","orphanet_url":"https://www.orpha.net/en/disease/detail/370059","names":{"fr":{"name":"Syndrome NEVADA","synonyms":["Naevus épidermique verruqueux avec angiodysplasie et anévrismes"],"definition":"Maladie rare de la peau, potentiellement létale, caractérisée par un nævus épidermique kératinocytaire présentant une hyperkératose blanche ou brunâtre épaisse, de type hystrix, associée à de multiples malformations vasculaires extracutanées, y compris une angiodysplasie avec des shunts artérioveineux affectant les gros vaisseaux qui peuvent être fatals pendant la période néonatale."},"de":{"name":"NEVADA-Syndrom","synonyms":["Naevus verrucosus mit Angiodysplasie und Aneurysmen"],"definition":"Eine seltene, lebensbedrohliche kutane Erkrankung, die durch einen keratinozytären epidermalen Naevus gekennzeichnet ist, der eine dicke, hystrixartige, weiße oder bräunliche Hyperkeratose aufweist, die mit multiplen extrakutanen vaskulären Fehlbildungen, einschließlich Angiodysplasien, einhergeht, die arteriovenöse Shunts großer Gefäße umfassen und in der Neugeborenenperiode tödlich sein können."},"es":{"name":"Síndrome NEVADA","synonyms":["Nevo epidérmico verrugoso con angiodisplasia y aneurismas"],"definition":"Es una enfermedad cutánea, poco frecuente y potencialmente mortal, caracterizada por unos nevos epidérmicos queratinocíticos que presentan una hiperqueratosis gruesa, blanca o parduzca, de superficie rugosa, asociada a múltiples malformaciones vasculares extracutáneas, incluyendo angiodisplasia, que afecta a fístulas arteriovenosas de grandes vasos y que puede resultar fatal durante el período neonatal."},"it":{"name":"Sindrome NEVADA","synonyms":["Nevo epidermico verrucoso con angiodisplasia e aneurismi"],"definition":"La sindrome NEVADA (nevo epidermico verrucoso con angiodisplasia ed aneurismi) è una malattia cutanea rara potenzialmente letale, caratterizzata da un nevo epidermico cheratinocitico con ipercheratosi spessa di colore bianco o tendente al marrone, che ricorda l'aspetto di un istrice, associato a malformazioni vascolari extracutanee multiple, tra le quali l'angiodisplasia che interessa gli shunt arterovenosi dei grandi vasi e può essere letale nel periodo neonatale."},"nl":{"name":"NEVADA-syndroom","synonyms":["Naevus epidermicus verrucosus met angiodysplasie en aneurysmata"],"definition":"Een zeldzame, levensbedreigende aandoening van huid, gekenmerkt door een keratinocytische epidermale naevus met dikke, hystrix-achtige, witte of bruine hyperkeratose geassocieerd met multipele extracutane vasculaire malformaties, waaronder angiodysplasie met arterioveneuze fistels van grote bloedvaten die fataal kunnen zijn tijdens de neonatale periode."},"pt":{"name":"Sindrome NEVADA"},"pl":{"name":"Zespół NEVADA","synonyms":["Znamię naskórkowe brodawkowate z angiodysplazją i tętniakami"],"definition":"*Zespół NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms; Brodawkowate znamię naskórkowe z dysplazją naczyń i tętniakami) jest rzadką, zagrażającą życiu chorobą skóry, która charakteryzuje się keratynocytowym znamieniem naskórkowym z grubą, kolcowatą hiperkeratozą o barwie białej lub brązowej, której towarzyszą mnogie, pozaskórne malformacje naczyniowe, takie jak angiodysplazja z przeciekami tętniczo-żylnymi dotyczącymi dużych naczyń, które mogą prowadzić do zgonu w okresie noworodkowym."},"cs":{"name":"NEVADA syndrom","synonyms":["Nevus epidermicus verrucosus s angiodysplázii a aneuryzmaty"]},"uk":{"name":"Синдром NEVADA","synonyms":["Веррукозний епідермальний невус з ангіодисплазією та аневризмами"],"definition":"A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period."},"zh":{"name":"NEVADA综合征","synonyms":["表皮疣状痣伴血管发育不良和动脉瘤"],"definition":"NEVADA(伴发血管发育不良和动脉瘤的疣状表皮样痣)综合征是一种罕见的、危及生命的皮肤病，其特征是角质形成细胞性表皮痣，表现为厚重、赘肉样、白色或褐色的角化过度，并伴有多种皮肤外血管畸形，包括涉及大血管动静脉分流的血管发育不良，在新生儿期可能致命。"},"tr":{"name":"NEVADA sendromu","synonyms":["Anjiyodisplazi ve anevrizmalarla seyreden Nevus epidermicus verrucosus"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BE2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}