{"orpha":1682,"name":"Arterial dissection-lentiginosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1682/","orphanet_url":"https://www.orpha.net/en/disease/detail/1682","names":{"fr":{"name":"Syndrome de dissection artérielle-lentiginose","definition":"Syndrome rare, rapporté à ce jour chez plusieurs membres de deux familles, caractérisé par l'association d'une dissection artérielle, survenant à un âge précoce, dont les manifestations varient en fonction de la zone vasculaire atteinte (par exemple céphalées, dysphasie, hémiparésie), et d'une nécrose kystique médiane et de multiples lentigines (de couleur brune et noire, affectant principalement la peau du tronc et des extrémités)."},"de":{"name":"Arteriendissektion mit Lentiginose","definition":"Die Assoziation von Arteriendissektion mit multiplen Lentigines wurde bei mehreren Mitgliedern von 2 Familien beschrieben. Es ist gekennzeichnet durch eine arterielle Dissektion, die in jungen Jahren auftritt und je nach betroffenem Gefäßgebiet eine Reihe von Manifestationen zeigt (z.B. Kopfschmerzen, Dysphasie, Hemiparese), in Verbindung mit einer zystischen medialen Nekrose und multiplen Lentigines (von brauner und schwarzer Farbe und hauptsächlich die Haut des Rumpfes und der Extremitäten betreffend)."},"es":{"name":"Síndrome de Síndrome de disección arterial-lentiginosis","definition":"Es una asociación sindrómica poco frecuente descrita hasta la fecha en varios miembros de dos familias. Está caracterizado por una disección arterial que se presenta a una edad temprana y con una variedad de manifestaciones según el área vascular afectada (p. ej., cefalea, disfasia, hemiparesia), junto con necrosis medial quística y léntigos múltiples (de color marrón y negro y que afectan principalmente a la piel del tronco y extremidades)."},"it":{"name":"Dissezione arteriosa con lentigginosi","definition":"La dissezione arteriosa associata a lentigginosi è una malattia rara osservata in diversi membri di due famiglie e caratterizzata dalla dissezione arteriosa, che esordisce in giovane età con una serie di segni clinici che dipendono dalla zona vascolare interessata (cefalea, disfagia, emiparesi), associata a necrosi cistica mediale e lentiggini multiple (di colore marrone o nero, che interessano soprattutto la cute del tronco e delle estremità)."},"nl":{"name":"Arteriële dissectie - lentiginose-syndroom","definition":"Een zeldzaam associatiesyndroom, tot op heden gerapporteerd bij verscheidene leden van twee families, en gekarakteriseerd door arteriële dissectie die voorkomt op vroege leeftijd en die zich presenteert met een waaier van manifestaties, afhankelijk van het vasculaire gebied dat betrokken is (bv. hoofdpijn, dysfasie, hemiparese), in associatie met cystische mediale necrose en multipele lentigines (bruin en zwart van kleur en voornamelijk op de huid van de romp en de ledematen)."},"pt":{"name":"Síndrome de disseção arterial-lentiginose"},"pl":{"name":"Rozwarstwienie aorty - plamy soczewicowate"},"cs":{"name":"Syndrom zahrnující arteriální disekci a lentiginózu"},"uk":{"name":"Синдром розшарування артерій - лентигіноз","definition":"A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)."},"zh":{"name":"动脉夹层-雀斑样痣病综合征"},"tr":{"name":"Arter diseksiyonu-lentiginöz sendromu"}},"xrefs":[{"source":"OMIM","code":"600459","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD50.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"607215604"},{"source":"MONDO","code":"0010889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304024","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":496924,"name":"Non-inflammatory vasculopathy","classifications":[198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7838191[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7838191[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null}]}}