{"orpha":79152,"name":"Disseminated superficial actinic porokeratosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79152/","orphanet_url":"https://www.orpha.net/en/disease/detail/79152","names":{"fr":{"name":"Porokératose actinique superficielle disséminée","definition":"Maladie cutanée rare, qui représente cependant la forme la plus fréquente des porokératoses ; elle se caractérise par la présence de plusieurs petites plaques annulaires à bordure kératosique caractéristique, observées le plus souvent sur des zones cutanées photo-exposées, notamment les extrémités."},"de":{"name":"Porokeratose, aktinische disseminierte superfizielle","synonyms":["Porokeratosis superficialis disseminata actinica (PSDA)"],"definition":"Eine seltene Hauterkrankung, die die häufigste Form der Porokeratose darstellt und durch das Vorhandensein mehrerer kleiner ringförmiger Plaques mit einem ausgeprägten keratotischen Rand gekennzeichnet ist, der sich am häufigsten an sonnenexponierten Hautstellen, insbesondere an den Extremitäten, findet."},"es":{"name":"Poroqueratosis actínica superficial diseminada","definition":"Es una enfermedad poco frecuente de la piel, y la forma más frecuente de poroqueratosis, caracterizada por la presencia de varias placas anulares de pequeño tamaño con un borde queratósico característico distribuidas más frecuentemente en las áreas fotoexpuestas de la piel, especialmente de las extremidades."},"it":{"name":"Porocheratosi attinica disseminata superficiale","definition":"La porocheratosi attinica disseminata superficiale (DSAP) è una malattia rara della cute, che rappresenta la forma più comune di porocheratosi. È caratterizzata dalla comparsa di piccole placche anulari con un caratteristico bordo cheratosico, di solito localizzate nelle aree della cute esposte al sole, in particolare sugli arti."},"nl":{"name":"Gedissemineerde oppervlakkige actinische porokeratose","definition":"Een zeldzame aandoening van huid en de meest voorkomende vorm van porokeratose, gekarakteriseerd door aanwezigheid van meerdere kleine, ringvormige plaques met een kenmerkende keratotische rand, die doorgaans aangetroffen worden op aan de zon blootgestelde delen van huid, voornamelijk ledematen."},"pt":{"name":"Poroqueratose actínica disseminada superficial"},"pl":{"name":"Rozsiana powierzchowna posłoneczna porokeratoza"},"cs":{"name":"Diseminovaná superficiální aktinická porokeratóza"},"uk":{"name":"Дисемінований поверхневий актинічний порокератоз","definition":"A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities."},"zh":{"name":"播散性浅表光线性汗孔角化病"},"tr":{"name":"Yaygın yüzeysel aktinik porokeratoz"}},"xrefs":[{"source":"OMIM","code":"175900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607728","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612293","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612353","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614714","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616063","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616631","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED52","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1828294192"},{"source":"MONDO","code":"0019212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265970","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10983","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085766","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183444,"name":"Genetic porokeratosis","classifications":[156]},{"orpha":79358,"name":"Porokeratosis","classifications":[187]}],"children":[],"genes":[{"symbol":"FDPS","name":"farnesyl diphosphate synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26202976[PMID]","hgnc":"3631","ensembl":"ENSG00000160752","omim":"134629","loci":["1q22"]},{"symbol":"MVD","name":"mevalonate diphosphate decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26202976[PMID]","hgnc":"7529","ensembl":"ENSG00000167508","omim":"603236","loci":["16q24.2"]},{"symbol":"MVK","name":"mevalonate kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22983302[PMID]_26202976[PMID]","hgnc":"7530","ensembl":"ENSG00000110921","omim":"251170","loci":["12q24.11"]},{"symbol":"SLC17A9","name":"solute carrier family 17 member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25180256[PMID]","hgnc":"16192","ensembl":"ENSG00000101194","omim":"612107","loci":["20q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Pr KANITAKIS Jean[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0200044","label":"Porokeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}