{"orpha":2812,"name":"Parana hard skin syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Hard skin syndrome, Parana type"],"definition":"A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2812/","orphanet_url":"https://www.orpha.net/en/disease/detail/2812","names":{"fr":{"name":"Syndrome de Parana","synonyms":["Syndrome de la peau rigide type Parana"],"definition":"Maladie génétique rare de la peau qui se caractérise par l'apparition très précoce d'un épaississement progressif de la peau sur l'ensemble du corps (à l'exception des paupières, du cou et des oreilles), une limitation progressive de la mobilité puis une immobilisation progressive des articulations, et, in fine, une restriction sévère des mouvements du thorax et de l'abdomen, se manifestant par une maladie pulmonaire restrictive pouvant entraîner le décès. Les autres caractéristiques sont un retard de croissance sévère et une ostéoporose. Aucun cas n'a été décrit dans la littérature depuis 1974."},"de":{"name":"Parana-Syndrom","synonyms":["Parana hard-skin-Syndrome"]},"es":{"name":"Síndrome de la piel rígida de Parana","synonyms":["Síndrome de Parana"],"definition":"Es un trastorno cutáneo genético y poco frecuente, de inicio muy temprano en la vida y caracterizado por un engrosamiento progresivo de la piel en todo el cuerpo (excepto en los párpados, el cuello y las orejas), una movilidad articular progresivamente limitada con inmovilización gradual de las articulaciones y una restricción del movimiento, eventualmente grave, del tórax y el abdomen, que se manifiesta con una enfermedad pulmonar restrictiva, lo que puede conducir a la muerte. Otras características adicionales incluyen un retraso del crecimiento grave y osteoporosis. Desde 1974 no ha habido más casos descritos en la literatura."},"it":{"name":"Sindrome della cute rigida del Parana","synonyms":["Sindrome della cute rigida, tipo Parana"],"definition":"La sindrome della cute rigida del Parana è una malattia cutanea genetica rara, caratterizzata da un ispessimento progressivo della cute di tutto il corpo (ad eccezione delle palpebre, del collo e delle orecchie) ad esordio molto precoce, da progressiva limitazione della mobilità articolare con blocco graduale delle articolazioni, e grave limitazione dei movimenti del torace e dell'addome, con conseguente malattia polmonare restrittiva, che può esitare nel decesso. Altri segni clinici sono il grave ritardo della crescita e l'osteoporosi. Non sono stati descritti nuovi casi dopo il 1974."},"nl":{"name":"Parana-hardehuidsyndroom","synonyms":["Hardehuidsyndroom, Parana-type"],"definition":"Een zeldzame genetische aandoening van huid, gekenmerkt door zeer vroege aanvang van progressieve verdikking van de huid over het gehele lichaam (behalve oogleden, nek en oren), progressief beperkte mobiliteit van gewrichten met gradueel verstarren van gewrichten, en uiteindelijk ernstige bewegingsbeperking van borstkas en abdomen die zich manifesteert met restrictieve longziekte, mogelijk met de dood tot gevolg. Bijkomende kenmerken zijn onder meer groeirestrictie en osteoporose. Sinds 1974 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de pele dura de Parana","synonyms":["Síndrome de pele dura, tipo Parana"]},"pl":{"name":"Parański zespół twardej skóry","synonyms":["Zespół twardej skóry, typu Parana"]},"cs":{"name":"Syndrom tvrdé kůže, typ Paraná","synonyms":["Hard skin syndrome, Parana type"]},"uk":{"name":"Синдром жорсткої шкіри Парана","synonyms":["Синдром жорсткої шкіри, тип Парана"],"definition":"A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974."},"zh":{"name":"Parana硬皮综合征","synonyms":["硬皮综合征，Parana型"]},"tr":{"name":"Parana sert cilt sendromu","synonyms":["Sert cilt sendromu, Parana tipi"]}},"xrefs":[{"source":"OMIM","code":"260530","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L91.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850079","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2598","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79385,"name":"Unclassified genetic skin disorder","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"4129896[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4129896[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006596","label":"Restricted chest movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}