{"orpha":2198,"name":"Palmoplantar keratoderma-esophageal carcinoma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bennion-Patterson syndrome","Howell-Evans syndrome","Keratosis palmoplantaris-esophageal carcinoma syndrome","Palmoplantar hyperkeratosis-esophageal carcinoma syndrome","Tylosis-oesophageal carcinoma syndrome"],"definition":"A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2198/","orphanet_url":"https://www.orpha.net/en/disease/detail/2198","names":{"fr":{"name":"Syndrome de kératodermie palmoplantaire-carcinome de l'oesophage","synonyms":["Syndrome d'hyperkératose palmoplantaire-carcinome de l'oesophage","Syndrome de Bennion-Patterson","Syndrome de Howell-Evans","Syndrome de tylose-cancer de l'oesophage"],"definition":"Maladie génétique rare caractérisée par un épaississement de la peau des paumes et de la plante des pieds limité aux zones supportant le poids et/ou exposées aux frottements (kératodermie palmoplantaire focale non épidermolytique) et par une leucokératose buccale et oesophagienne, associée à un risque très élevé de développement d'un carcinome épidermoïde de l'oesophage au cours de la vie. Les lésions cutanées apparaissent dans l'enfance et peuvent se compliquer de fissures et d'infections."},"de":{"name":"Palmoplantarkeratose-Ösophaguskarzinom-Syndrom","synonyms":["Bennion-Patterson-Syndrom","Howell-Evans-Syndrom","Palmoplantare Hyperkeratose - Speiseröhrenkarzinom","Palmoplantare Keratodermie mit Speiseröhrenkarzinom","Tylosis - Speiseröhrenkarzinom"],"definition":"Eine seltene genetische Erkrankung, die durch eine Verdickung der Haut an den Handflächen und Fußsohlen gekennzeichnet ist, die auf Bereiche beschränkt ist, in denen Gewicht getragen wird und/oder Reibung auftritt (fokale, nicht epidermolytische palmoplantare Keratodermie), sowie orale und ösophageale Leukokeratose, die mit einem sehr hohen Lebenszeitrisiko für die Entwicklung eines Plattenepithelkarzinoms der Speiseröhre verbunden ist. Die Hautläsionen treten in der Kindheit auf und können durch Rissbildung und Infektionen kompliziert werden."},"es":{"name":"Síndrome de queratodermia palmoplantar-carcinoma esofágico","synonyms":["Síndrome de Bennion-Patterson","Síndrome de Howell-Evans","Síndrome de hiperqueratosis palmoplantar-carcinoma esofágico","Síndrome de queratosis palmoplantar-carcinoma esofágico","Tilosis-carcinoma esofágico"],"definition":"Es una enfermedad genética poco frecuente caracterizada por un engrosamiento de la piel de las palmas y plantas de los pies, restringida a áreas de presión y/o fricción (queratodermia palmoplantar focal no epidermolítica), y por una leucoqueratosis oral y esofágica, asociada con un riesgo muy elevado de por vida de desarrollar carcinoma de células escamosas de esófago. Las lesiones cutáneas aparecen en la infancia y pueden complicarse con fisuras e infecciones."},"it":{"name":"Sindrome cheratoderma palmoplantare-carcinoma dell'esofago","synonyms":["Sindrome cheratosi palmoplantare-carcinoma esofageo","Sindrome di Bennion-Patterson","Sindrome di Howell-Evans","Sindrome ipercheratosi palmoplantare-carcinoma esofageo","Tilosi - carcinoma esofageo"],"definition":"Si tratta di una malattia genetica rara, caratterizzata dall'ispessimento della cute del palmo delle mani e della pianta dei piedi, che interessa le zone sottoposte a carico e/o ad attrito (cheratoderma palmoplantare focale non epidermolitico), e da leucocheratosi orale ed esofagea, associata ad una probabilità molto elevata di sviluppare un carcinoma a cellule squamose dell'esofago nell'arco della vita. Le lesioni cutanee si manifestano durante l'infanzia e possono associarsi a complicanze come le fissurazioni e le infezioni."},"nl":{"name":"Palmoplantaire keratodermie - oesofageaal carcinoom-syndroom","synonyms":["Bennion-Pattersonsyndroom","Howell-Evanssyndroom","Hyperkeratose van handpalm of voetzool - oesofageaal carcinoom-syndroom","Keratodermie van handpalm of voetzool - oesofageaal carcinoom-syndroom","Keratosis palmoplantaris - oesofageaal carcinoom-syndroom","Palmoplantaire hyperkeratose - oesofageaal carcinoom-syndroom","Tylose - oesofageaal carcinoom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door verdikking van huid op handpalmen en voetzolen, beperkt tot gebieden die gewicht dragen en/of frictie ondervinden (focale, niet-epidermolytische palmoplantaire keratodermie), en orale en oesofageale leukokeratose, geassocieerd met zeer hoog, levenslang risico op ontwikkeling van plaveiselcelcarcinoom van oesofagus. De huid laesies verschijnen in de kindertijd en kunnen gecompliceerd worden door fissuren en infectie."},"pt":{"name":"Síndrome de queratodermia palmoplantar-carcinoma esofágico","synonyms":["Síndrome Bennion-Patterson","Tilose-carcinoma do esófago"]},"pl":{"name":"Zespół rogowiec dłoni i stóp - nowotwór przełyku","synonyms":["Hiperkeratoza dłoni i stóp - rak przełyku","Keratosis palmoplantaris-esophageal carcinoma syndrome","Zespół Benniona i Pattersona","Zespół hiperkeratozy dłoni i stóp oraz nowotworu przełyku","Zespół Howella i Evansa"]},"cs":{"name":"Syndrom zahrnující palmoplantární keratoderma a karcinom jícnu","synonyms":["Syndrom zahrnující palmoplantární keratózu a karcinom jícnu","Syndrom zahrnující palmoplantární hyperkeratózu a karcinom jícnu","Syndrom zahrnující tylózu a karcinom jícnu","Bennionův-Pattersonův syndrom","Howellův-Evansův syndrom","Bennion-Pattersonův syndrom","Howell-Evansův syndrom"]},"uk":{"name":"Синдром долонно-підошовної кератодермії-стравохідної карциноми","synonyms":["Синдром Бенніона-Паттерсона","Синдром Хауелла-Еванса","Синдром долонно-підошовного кератозу - карцинома стравоходу","Синдром долонно-підошовного гіперкератозу - карцинома стравоходу","Синдром тилозно-стравохідної карциноми"],"definition":"A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection."},"zh":{"name":"掌跖角化病-食管癌综合征","synonyms":["表皮松解性角化过度症-食管癌综合征"]},"tr":{"name":"Palmoplantar keratoderma-özofagus karsinom sendromu","synonyms":["Howell-Evans sendromu","Bennion-Patterson sendromu","Tiloz-özofageal karsinom sendromu","Keratoz palmoplantaris-Özofageal karsinom sendromu","Palmoplantar hiperkeratoz-Özofageal karsinom sendromu"]}},"xrefs":[{"source":"OMIM","code":"148500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"457036041"},{"source":"MONDO","code":"0007856","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536164","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835664","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3102","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98353,"name":"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":165658,"name":"Genetic gastro-esophageal disease","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"RHBDF2","name":"rhomboid 5 homolog 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22265016[PMID]","hgnc":"20788","ensembl":"ENSG00000129667","omim":"614404","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"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":"2017-07-27","source":null,"terms":[{"hpo":"HP:0002250","label":"Abnormal large intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025270","label":"Abnormal esophagus physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Occasional (29-5%)","criteria":null}]}}