{"orpha":370046,"name":"Didymosis aplasticosebacea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aplasia cutis congenita-nevus sebaceus syndrome"],"definition":"A rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370046/","orphanet_url":"https://www.orpha.net/en/disease/detail/370046","names":{"fr":{"name":"Syndrome d'aplasie cutanée congénitale-naevus sébacé","synonyms":["Didymosis aplasticosebacea"],"definition":"Maladie rare de la peau caractérisée par l'association d'un naevus sébacé et d'une aplasia cutis congenita situés soit de manière contiguë, soit rapprochée, et des anomalies oculaires comprenant des dermoïdes limbiques et un colobome de la conjonctive."},"de":{"name":"Didymosis aplasticosebacea","synonyms":["Aplasia cutis congenita-Naevus sebaceus-Syndrom"]},"es":{"name":"Didimosis aplasticosebácea","synonyms":["Síndrome de aplasia cutis congénita-nevo sebáceo"],"definition":"Es un trastorno cutáneo poco frecuente caracterizado por la coexistencia de nevos sebáceos y aplasia cutánea congénita, localizados bien en contigüidad o muy cercanos, asociados a anomalías oculares, incluyendo dermoides limbares y coloboma de la conjuntiva."},"it":{"name":"Didimosi aplastico-sebacea","synonyms":["Sindrome aplasia cutanea congenita-nevo sebaceo"],"definition":"La didimosi aplastico-sebacea è una malattia cutanea rara, caratterizzata da nevi sebacei associati ad aplasia cutis congenita in una regione adiacente o molto vicina, ed anomalie oculari (dermoidi nel limbus e colobomi della congiuntiva)."},"nl":{"name":"Didymosis aplasticosebacea","synonyms":["Aplasia cutis congenita - naevus sebaceus-syndroom"],"definition":"Didymosis aplasticosebacea is een zeldzame huidstoornis die gekarakteriseerd wordt door het samen voorkomen van talgkliernaevi met aangrenzend of in de dichte nabijheid aplasia cutis congenita en oculaire afwijkingen waaronder limbale dermoïden en coloboom van het bindvlies."},"pt":{"name":"Didimose aplasticosebácea"},"pl":{"name":"Didimos aplastycznołojowe","synonyms":["Zespół wrodzona aplazja skóry-znamię łojowe"],"definition":"*Didymos (bliźniak) aplastycznołojowy jest rzadkim schorzeniem skóry, które charakteryzuje się współwystępowaniem znamion łojowych z wrodzoną aplazją skórną, które zlokalizowane są w bezpośrednim lub bliskim sąsiedztwie i którym towarzyszą nieprawidłowości ocznymi, w tym dermoid (potworniak) rąbka i koloboma (rozszczep) spojówki."},"cs":{"name":"Didymosis aplasticosebacea","synonyms":["Syndrom zahrnující aplasia cutis congenita a sebaceózní névus"]},"uk":{"name":"Апластикозний дидимоз","synonyms":["Синдром вродженої аплазії шкірного покриву - невус сальних залоз"],"definition":"A rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva."},"zh":{"name":"先天性皮肤发育不全-皮脂腺痣综合征","synonyms":["先天性皮肤发育不全-皮脂腺痣综合征"],"definition":"再生障碍性皮肤病是一种罕见的皮肤病，其特征是皮脂痣与先天性皮肤再生障碍性疾病并存，并伴有眼部异常，包括角膜缘、皮样和结膜缺损。"},"tr":{"name":"Didimoz aplastikosebase","synonyms":["Aplazia kutis doğumsal-nevüs sebase sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC60","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751600","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"11385232[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}