{"orpha":2881,"name":"Cutaneous photosensitivity-lethal colitis syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2881/","orphanet_url":"https://www.orpha.net/en/disease/detail/2881","names":{"fr":{"name":"Syndrome de photosensibilité cutanée-colite létale","definition":"Maladie inflammatoire rare de l'intestin caractérisée par une photosensibilité cutanée précoce se manifestant par des lésions érythémateuses et vésiculaires du visage induites par l'exposition au soleil et par une colite récurrente sévère entraînant une diarrhée résistant à tout traitement. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Kutane Photosensitivität-letale Kolitis-Syndrom","definition":"Eine seltene entzündliche Darmerkrankung, die durch eine frühe kutane Lichtempfindlichkeit mit sonnenbedingten erythematösen und vesikulären Läsionen im Gesicht und eine schwere rezidivierende Kolitis mit therapieresistenter Diarrhoe gekennzeichnet ist. Seit 1991 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de fotosensibilidad cutánea-colitis letal","definition":"Es una enfermedad inflamatoria intestinal poco frecuente caracterizada por fotosensibilidad cutánea temprana que se manifiesta con lesiones eritematosas y vesiculares faciales inducidas por el sol y colitis recurrente grave que conduce a diarrea intratable. No ha habido más descripciones en la literatura desde 1991."},"it":{"name":"Fotosensibilità cutanea - colite letale"},"nl":{"name":"Cutane fotosensitiviteit - letale colitis-syndroom","definition":"Een zeldzame inflammatoire darmziekte, gekenmerkt door vroege lichtgevoeligheid van huid die zich manifesteert met door zonlicht geïnduceerde erythemateuze en vesiculaire laesies van aangezicht, en ernstige recidiverende colitis die leidt tot onbehandelbare diarree. Sinds 1991 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de fotossensibilidade cutânea-colite letal"},"pl":{"name":"Wrażliwość na światło - śmiertelne zapalenie jelit","definition":"Rzadka nieswoista choroba zapalna jelit charakteryzująca się wczesną nadwrażliwością skóry na światło, która objawia się zmianami rumieniowymi i pęcherzykowymi na twarzy po ekspozycji na słońce oraz ciężkim nawracającym zapaleniem jelita grubego, które prowadzi do nieuleczalnej biegunki. Od 1991 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující kožní fotosenzitivitu a letální kolitidu"},"uk":{"name":"Синдром шкірної фоточутливості - летального коліту","definition":"A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991."},"zh":{"name":"皮肤光过敏-致死性结肠炎综合征"},"tr":{"name":"Kutanöz fotosensitive-letal kolit sendromu"}},"xrefs":[{"source":"OMIM","code":"219095","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L57.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB33.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1572515428"},{"source":"MONDO","code":"0009051","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303808","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1633","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":717865,"name":"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2002480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2002480[PMID]"}],"phenotypes":null}