{"orpha":302,"name":"Inherited epidermodysplasia verruciformis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lewandowsky-Lutz syndrome","Lutz-Lewandowsky epidermodysplasia verruciformis"],"definition":"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-302/","orphanet_url":"https://www.orpha.net/en/disease/detail/302","names":{"fr":{"name":"Epidermodysplasie verruciforme héréditaire","synonyms":["Dysplasie Lewandowsky-Lutz","Epidermodysplasie verruciforme de Lutz-Lewandowsky","Syndrome de Lewandowsky-Lutz"],"definition":"L'épidermodysplasie verruciforme (EV) est une génodermatose rare caractérisée par une infection chronique au papillomavirus humain (HPV) entraînant l'apparition de lésions cutanées polymorphes et présentant un risque élevé de cancer de la peau."},"de":{"name":"Epidermodysplasia verruciformis, hereditäre","synonyms":["Lewandowsky-Lutz-Syndrom","Lutz-Lewandowsky Epidermodysplasia verruciformis"],"definition":"Die Epidermodysplasia verruciformis (EV) ist eine seltene Genodermatose mit chronischer HPV (humanes Papillomvirus)-Infektion, die zu polymorphen Hautläsionen führt und ein hohes Risiko für Hautkrebs (nicht für Melanom) bedingt."},"es":{"name":"Epidermodisplasia verruciforme hereditaria","synonyms":["Epidermodisplasia verruciforme de Lutz-Lewandowsky","Síndrome de Lewandowsky-Lutz"],"definition":"La epidermodisplasia verruciforme (EV) es una genodermatosis hereditaria poco frecuente caracterizada por una infección crónica por el virus del papiloma humano (VPH), que conlleva la aparición de lesiones cutáneas polimorfas y un riesgo elevado de cáncer de piel."},"it":{"name":"Epidermodisplasia verruciforme ereditaria","synonyms":["Epidermodisplasia verruciforme di Lutz-Lewandowsky","Sindrome di Lewandowsky-Lutz"]},"nl":{"name":"Hereditaire epidermodysplasia verruciformis","synonyms":["Epidermodysplasia verruciformis, Lutz-Lewandowsky-type","Syndroom van Lewandowsky-Lutz"],"definition":"Epidermodysplasia verruciformis (EV) is een zeldzame erfelijke genodermatose, gekenmerkt door chronische infectie door humaan papillomavirus (HPV), die leidt tot polymorfe cutane laesies en hoog risico op ontwikkeling van non-melanoma huidkanker."},"pt":{"name":"Epidermodisplasia verruciforme hereditária","synonyms":["Epidermodisplasia verruciforme Lutz-Lewandowsky","Síndrome Lewandowsky-Lutz"],"definition":"A epidermodisplasia verruciforme (EV) é uma genodermatose hereditária rara caracterizada por infeção crónica pelo papilomavírus humano (HPV) levando a lesões cutâneas polimórficas e alto risco de desenvolver cancro de pele não melanoma."},"pl":{"name":"Dziedziczna nabłonkowa dysplazja brodawkowata","synonyms":["Nabłonkowa dysplazja brodawkowata typu Lutza i Lewandowsky'ego","Zespół Lewandowsky'ego i Lutza","Zespół Lutza i Lewandowsky'ego","Nabłonkowa dysplazja brodawkowata typu Lutza i Lewandowsky'ego"]},"cs":{"name":"Epidermodysplasia verruciformis","synonyms":["Lutzova-Lewandowského epidermodysplasia verruciformis","Lewandowského-Lutzův syndrom","Lewandowsky-Lutzův syndrom","Lutz-Lewandowského epidermodysplasia verruciformis"]},"uk":{"name":"Спадкова епідермодисплазія верукоподібна","synonyms":["Синдром Левандовського-Лутца","Веррукоподібна епідермодисплазія Лютца-Левандовського"],"definition":"Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer."},"zh":{"name":"表皮发育不良","synonyms":["Lutz-Lewandowsky疣状表皮发育不良"]},"tr":{"name":"Epidermodisplazi verrusiformis","synonyms":["Lewandowsky-Lutz sendromu","Lutz-Lewandowsky epidermodisplazi verrusiformis"]}},"xrefs":[{"source":"OMIM","code":"226400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618231","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618267","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618309","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"B07","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"1E83","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1191479808"},{"source":"MONDO","code":"0009176","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014522","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6357","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052339","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"TMC6","name":"transmembrane channel like 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12426567[PMID]","hgnc":"18021","ensembl":"ENSG00000141524","omim":"605828","loci":["17q25.3"]},{"symbol":"TMC8","name":"transmembrane channel like 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12426567[PMID]","hgnc":"20474","ensembl":"ENSG00000167895","omim":"605829","loci":["17q25.3"]},{"symbol":"CIB1","name":"calcium and integrin binding 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30068544[PMID]","hgnc":"16920","ensembl":"ENSG00000185043","omim":"602293","loci":["15q26.1"]},{"symbol":"IL7","name":"interleukin 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25981006[PMID]","hgnc":"6023","ensembl":"ENSG00000104432","omim":"146660","loci":["8q21.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null}]}}