{"orpha":2897,"name":"Pityriasis rubra pilaris","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2897/","orphanet_url":"https://www.orpha.net/en/disease/detail/2897","names":{"fr":{"name":"Pityriasis rubra pilaire","definition":"Le pityriasis rubra pilaire (PRP) est une affection chronique papulosquameuse rare, d'étiologie inconnue, et caractérisée par de petites papules folliculaires, des taches squameuses rouge-orangé, et une kératodermie palmoplantaire, qui peut évoluer de plaques vers une érythrodermie. Bien que la plupart des cas soient sporadiques et acquis, il existe une forme familiale de la maladie."},"de":{"name":"Pityriasis rubra pilaris","synonyms":["Devergie-Krankheit"],"definition":"Die Pityriasis rubra pilaris ist eine seltene chronische papulo-squamöse Erkrankung unbekannter Ätiologie. Die Patienten haben kleine follikuläre Papeln, schuppende rot-orange Flecken und eine palmo-plantare Hyperkeratose, die sich zu Plaques und zur Erythrodermie fortentwickeln kann. Die meisten Fälle sind sporadisch und erworben, es wurde aber auch eine familiäre Form der Krankheit beschrieben."},"es":{"name":"Pitiriasis rubra pilaris","definition":"La pitiriasis rubra pilaris es una patología papuloescamosa crónica, poco frecuente y de etiología desconocida, caracterizada por la presencia de pápulas foliculares pequeñas, placas escamosas rojizo-anaranjadas e hiperqueratosis palmoplantar, que puede progresar a la formación de placas o eritroderma. Aunque la mayoría de los casos son esporádicos y adquiridos, existe una forma familiar de la enfermedad."},"it":{"name":"Pitiriasi rubra pilare"},"nl":{"name":"Pityriasis rubra pilaris","definition":"Pityriasis rubra pilaris is een zeldzame, chronische, papulosquameuze aandoening met ongekende etiologie, gekarakteriseerd door kleine, folliculaire papels, schilferige, rood-oranje vlekken, en palmoplantaire hyperkeratose die kan evolueren tot plaques of erytrodermie. Hoewel de meeste gevallen sporadisch en verworven zijn, bestaat ook een familiale vorm van de ziekte."},"pt":{"name":"Pytiriasis rubra pilosa"},"pl":{"name":"Łupież czerwony mieszkowy"},"cs":{"name":"Pityriasis rubra pilaris"},"uk":{"name":"Червоний волосяний лишай","definition":"Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists."},"zh":{"name":"毛发红糠疹"},"tr":{"name":"Pitiriazis rubra pilaris"}},"xrefs":[{"source":"OMIM","code":"173200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L44.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EA94","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2048594962"},{"source":"MONDO","code":"8251","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032027","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7401","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035116","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79355,"name":"Erythrokeratoderma","classifications":[187]},{"orpha":183438,"name":"Genetic erythrokeratoderma","classifications":[156]}],"children":[],"genes":[{"symbol":"CARD14","name":"caspase recruitment domain family member 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22703878[PMID]","hgnc":"16446","ensembl":"ENSG00000141527","omim":"607211","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":48.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 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:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008392","label":"Subungual hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Occasional (29-5%)","criteria":null}]}}