{"orpha":2201,"name":"Palmoplantar keratoderma-spastic paralysis syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Palmoplantar hyperkeratosis-spastic paralysis syndrome","Powell-Venencie-Gordon syndrome"],"definition":"A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2201/","orphanet_url":"https://www.orpha.net/en/disease/detail/2201","names":{"fr":{"name":"Syndrome de kératodermie palmoplantaire-spasticité","synonyms":["Syndrome d'hyperkératose palmoplantaire-spasticité","Syndrome de Powell-Venencie-Gordon"],"definition":"Kératodermie palmoplantaire ponctuée rare d'origine génétique, caractérisée par une kératodermie ponctuée discrète et focale affectant les paumes des mains et les plantes des pieds et/ou une paralysie spastique lentement progressive, affectant principalement les membres inférieurs. L'histologie de lésions met en évidence une orthokératose prononcée, une acanthose, une papillomatose et une ondulation régulière de la kératine de surface. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Palmoplantarkeratose-spastische Paralyse-Syndrom","synonyms":["Palmoplantare Hyperkeratose-spastische Paralyse-Syndrom","Powell-Venencie-Gordon-Syndrom"],"definition":"Eine seltene, genetisch bedingte, punktförmige Palmoplantarkeratose, die durch diskrete, fokale, punktförmige Keratosen an den Handflächen und Fußsohlen und/oder langsam fortschreitende spastische Lähmungen gekennzeichnet ist und vorwiegend die unteren Gliedmaßen betrifft. Die Histologie der Läsionen zeigt eine ausgeprägte Orthokeratose, Akanthose, Papillomatose und eine regelmäßige Wellenbildung des Oberflächenkeratins. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de queratodermia palmoplantar-parálisis espástica","synonyms":["Síndrome de Powell-Venencie-Gordon","Síndrome de hiperqueratosis palmoplantar-parálisis espástica"],"definition":"Es un tipo de queratodermia palmoplantar punctata, genética y poco frecuente, caracterizada por queratodermia discreta, focal y punctata en las palmas de las manos y las plantas de los pies y/o parálisis espástica lentamente progresiva, con afectación predominante de las extremidades inferiores. La histología de la lesión revela una marcada ortoqueratosis, acantosis, papilomatosis y ondulaciones regulares de la queratina superficial. Desde 1983 no ha habido más casos descritos en la literatura."},"it":{"name":"Sindrome da cheratoderma palmoplantare e paralisi spastica","synonyms":["Sindrome di Powell-Venencie-Gordon","Sindrome ipercheratosi palmoplantare-paralisi spastica"],"definition":"È un cheratoderma palmo-plantare puntato genetico raro, caratterizzato da cheratoderma puntato focale moderato localizzato sul palmo delle mani e sulla pianta dei piedi associato a paralisi spastica a progressione lenta, che interessa per lo più gli arti inferiori. L'esame istologico delle lesioni evidenzia un'ortocheratosi marcata, acantosi, papillomatosi e un'ondulazione regolare della cheratina superficiale. Non sono stati descritti nuovi casi dopi il 1983."},"nl":{"name":"Palmoplantaire keratodermie - spastische paralyse-syndroom","synonyms":["Hyperkeratose van handpalm of voetzool - spastische verlamming-syndroom","Keratodermie van handpalm of voetzool - spastische verlamming-syndroom","Palmoplantaire hyperkeratose - spastische verlamming-syndroom","Powell-Venencie-Gordonsyndroom"],"definition":"Een zeldzame, genetische, puntvormige palmoplantaire keratodermie die gekarakteriseerd wordt door discrete, focale, puntvormige keratodermie op de palmen en zolen en/of traag progressieve spastische verlamming, voornamelijk aan de onderste ledematen. Lesionale histologie toont uitgesproken orthokeratose, acanthose, papillomatose, en regelmatige ondulatie van oppervlakkig keratine. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de queratodermia palmoplantar-paralisia espástica","synonyms":["Síndrome Powell-Venencie-Gordon"]},"pl":{"name":"Rogowiec dłoni i stóp-zespół porażenia spastycznego","synonyms":["Hiperkeratoza dłoni i stóp-zespół porażenia spastycznego","Zespół Powella, Venencie i Gordona"]},"cs":{"name":"Syndrom zahrnující palmoplantární keratoderma a spastickou paralýzu","synonyms":["Syndrom zahrnující palmoplantární hyperkeratózu a spastickou paralýzu","Powellův-Venencieův-Gordonův syndrom","Powell-Venencie-Gordonův syndrom"]},"uk":{"name":"Синдром долонно-підошовної кератодермїї-спастичного паралічу","synonyms":["Синдром долонно-підошовного гіперкератозу-спастичного паралічу","Синдром Пауелла-Вененсі-Гордона"],"definition":"A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983."},"zh":{"name":"掌跖角化病-痉挛性麻痹综合征","synonyms":["表皮松解性角化过度症-痉挛型瘫痪综合征"]},"tr":{"name":"Palmoplantar keratoderma-spastik paraliz sendromu","synonyms":["Powell-Venencie-Gordon sendromu","Palmoplantar hiperkeratoz-spastik paraliz sendromu"]}},"xrefs":[{"source":"OMIM","code":"148360","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.32","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931828","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3095","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":308031,"name":"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"6227331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6227331[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-27","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null}]}}