{"orpha":370039,"name":"Angora hair nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Schauder syndrome"],"definition":"A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370039/","orphanet_url":"https://www.orpha.net/en/disease/detail/370039","names":{"fr":{"name":"Syndrome de Schauder","synonyms":["Naevus à poils angora"],"definition":"Nævus rare caractérisé par la présence de nævus épidermiques consistant en une hypertrichose dépigmentée se manifestant par de longs poils blancs et souples qui poussent dans des follicules dilatés en suivant les lignes de Blaschko, situés généralement sur le cuir chevelu, le cou, le visage, le tronc et/ou les membres. L' association avec des nævus épidermiques linéaires hyperpigmentés et hyperkératosiques, une macrocéphalie, une asymétrie corporelle, une fossette sacro-coccygienne et une koïlonychie, ainsi que des anomalies squelettiques, oculaires et neurologiques, a également été rapportée."},"de":{"name":"Angorahaar-Naevus","synonyms":["Schauder-Syndrom"]},"es":{"name":"Nevo de pelo de Angora","synonyms":["Síndrome de Schauder"],"definition":"Es un trastorno poco frecuente caracterizado por la presencia de nevus epidérmicos, que consisten en una hipertricosis despigmentada, que se manifiesta con un pelo largo, suave y blanco que crece a partir de folículos dilatados y sigue las líneas de Blaschko, generalmente localizadoa en el cuero cabelludo, el cuello, la cara, el tronco y/o las extremidades. También se ha descrito su asociación con nevus epidérmicos lineales hiperpigmentados, hiperqueratósicos, macrocefalia, asimetría corporal, hoyuelo sacro y coiloniquia, así como con anomalías esqueléticas, oculares y neurológicas."},"it":{"name":"Nevo a pelo d'angora","synonyms":["Sindrome di Schauder"],"definition":"Il nevo a pelo d'angora è una malattia rara che consiste nella presenza di nevi epidermici associati ad ipertricosi depigmentata, con peli bianchi soffici e lunghi che originano dai follicoli dilatati lungo le linee di Blaschko, e caratteristicamente si localizzano sul cuoio capelluto, sul collo, sul viso, sul tronco e/o sugli arti. Può associarsi a nevi epidermici lineari iperpigmentati ipercheratosici, macrocefalia, asimmetria del corpo, fossetta sacrale, coilonichia, e ad anomalie scheletriche, oculari e neurologiche."},"nl":{"name":"Angorahaarnaevus","synonyms":["Syndroom van Schauder"],"definition":"Een zeldzame stoornis met naevi, gekarakteriseerd door epidermale naevi met gedepigmenteerde hypertrichose die zich manifesteren als gedilateerde follikels langs de lijnen van Blaschko waaruit lange, zachte, witte haren groeien, doorgaans gesitueerd op hoofdhuid, nek/hals, gelaat, romp en/of ledematen. Er werd ook reeds associatie gerapporteerd met gehyperpigmenteerde, hyperkeratotische lineaire epidermale naevi, macrocefalie, lichaamsasymmetrie, sacraal putje en koilonychie, alsook skeletale, oculaire, en neurologische afwijkingen."},"pt":{"name":"Angora, nevo capilar"},"pl":{"name":"Znamię z włosami typu angora","synonyms":["Zespół Schaudera"],"definition":"*Znamię z włosami typu angora to rzadkie zaburzenie, które charakteryzuje się obecnością znamion naskórka, z odbarwionym nadmiernym owłosieniem, które ma postać długich, miękkich, białych włosów, wyrastających z poszerzonych mieszków włosowych i ułożonych wzdłuż linii Blaschko, zwykle zlokalizowanych na skórze głowy, szyi, twarzy, tułowia i/lub kończyn. Opisywano także nadmiernie wybarwione, linijne znamiona naskórkowe z nadmiernym rogowaceniem, wielkogłowie, asymetrię ciała, zagłębienia w okolicy krzyżowej i koilonychię, a także nieprawidłowości kości, narządu wzroku i zaburzenia neurologiczne."},"cs":{"name":"Angora hair névus","synonyms":["Schauderové syndrom"]},"uk":{"name":"Ангорський волосяний невус","synonyms":["Синдром Шаудера"],"definition":"A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported."},"zh":{"name":"安哥拉发痣","synonyms":["Schauder综合征"],"definition":"本病是一种罕见的痣疾病，其特征是常位于头皮、颈部、面部、躯干和/或四肢的表皮痣，表现为色素脱失性多毛症（长软的白发从扩张的毛囊中长出，并沿着布氏线生长）。本病与多种疾病的关联也已被报道，包括色素沉着过度、角化过度的线形表皮痣、巨头畸形、身体不对称、骶骨凹陷和凹甲以及骨骼、眼睛和神经异常。"},"tr":{"name":"Angora saç nevüsü","synonyms":["Schauder sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC00.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751601","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","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23858341[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}