{"orpha":2800,"name":"Extramammary Paget disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2800/","orphanet_url":"https://www.orpha.net/en/disease/detail/2800","names":{"fr":{"name":"Maladie de Paget extramammaire","definition":"Tumeur rare de la peau caractérisée par la croissance, généralement intra-épithéliale, d'un adénocarcinome qui peut se développer principalement dans la peau (maladie de Paget primaire extramammaire) ou à la suite de la propagation intra-épithéliale d'un carcinome viscéral (maladie de Paget secondaire extramammaire). La lésion est généralement localisée dans la zone anogénitale et se présente sous la forme d'une plaque érythémateuse squameuse, suintante, prurigineuse ou douloureuse, ressemblant souvent à de l'eczéma. Elle peut présenter une composante invasive avec un risque important de métastases ganglionnaires."},"de":{"name":"Paget-Syndrom, extramammär","definition":"Ein seltener Hauttumor, der durch ein vorwiegend intraepitheliales Wachstum eines Adenokarzinoms gekennzeichnet ist, das entweder primär in der Haut entstehen kann (primärer extramammärer Paget-Syndrom) oder aus der intraepithelialen Ausbreitung eines viszeralen Karzinoms resultiert (sekundärer extramammärer Paget-Syndrom). Die Läsion ist typischerweise in der Anogenitalregion lokalisiert und präsentiert sich als schuppiger, nässender, juckender oder schmerzhafter erythematöser Belag, der oft einem Ekzem ähnelt. Sie kann eine invasive Komponente aufweisen, die ein erhebliches Risiko für Lymphknotenmetastasen birgt."},"es":{"name":"Enfermedad de Paget extramamaria","definition":"Es un tumor cutáneo poco frecuente caracterizado por el crecimiento, predominantemente, intraepitelial de un adenocarcinoma que puede surgir inicialmente en la piel (enfermedad de Paget extramamaria primaria) o resultar de la diseminación intraepitelial de un carcinoma visceral (enfermedad de Paget extramamaria secundaria). La lesión se localiza típicamente en la región anogenital, presentándose como una placa eritematosa descamativa, exudativa, pruriginosa o dolorosa que, a menudo, es similar al eccema. Puede presentar un componente invasivo con un riesgo elevado de metástasis en los ganglios linfáticos."},"it":{"name":"Malattia extramammaria di Paget","definition":"Si tratta di un tumore raro della cute, caratterizzato da un adenocarcinoma per lo più intraepiteliale, che origina dalla cute (malattia primitiva di Paget extramammaria) o derivato dalla diffusione intraepiteliale di un carcinoma viscerale (malattia secondaria di Paget extramammaria). Di solito la lesione si localizza nella zona anogenitale sotto forma di placca eritematosa desquamata, trasudante, pruriginosa o dolorosa, spesso simile all'eczema. Può essere invasiva, con una probabilità significativa di metastasi ai linfonodi."},"nl":{"name":"Extramammaire ziekte van Paget","definition":"Een zeldzame tumor van huid, gekarakteriseerd door hoofdzakelijk intra-epitheliale groei van een adenocarcinoom dat primair kan ontstaan in huid (primaire extramammaire ziekte van Paget) of ontstaat als gevolg van intra-epitheliale verspreiding van een visceraal carcinoom (secundaire extramammaire ziekte van Paget). De laesie is doorgaans gesitueerd in de anogenitale regio, en presenteert zich als een schilferige, lekkende, pruritische of pijnlijke erythemateuze plaque die vaak lijkt op eczeem. Mogelijk is er een invasieve component met significant risico op metastase naar lymfeklieren."},"pt":{"name":"Doença de Paget extra-mamária"},"pl":{"name":"Pozasutkowa postać choroby Pageta"},"cs":{"name":"Extramamární Pagetova nemoc"},"uk":{"name":"Екстрамаммарна хвороба Педжета","definition":"A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis."},"zh":{"name":"乳房外Paget病"},"tr":{"name":"Meme dışı Paget hastalığı"}},"xrefs":[{"source":"OMIM","code":"167300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C44.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E64.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1796624917"},{"source":"MONDO","code":"0008177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0030186","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4192","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068223","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98063,"name":"Rare gynecological tumor","classifications":[202,205]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"ERBB2","name":"erb-b2 receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"31860417[PMID]","hgnc":"3430","ensembl":"ENSG00000141736","omim":"164870","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}