{"orpha":502366,"name":"Squamous cell carcinoma of the lip","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502366/","orphanet_url":"https://www.orpha.net/en/disease/detail/502366","names":{"fr":{"name":"Carcinome épidermoïde de la lèvre","definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme infiltrant ferme à différenciation squameuse, apparaissant le plus souvent au bord du vermillon de la lèvre inférieure. Les patients présentent une lésion généralement asymptomatique d'aspect variable, telle qu'une ulcération, un foyer d'épaississement blanchâtre, une zone atrophique sèche ou une zone de gerçures persistantes et de squames et croûtes localisées. Les carcinomes de la lèvre inférieure ont tendance à progresser lentement (contrairement à ceux de la lèvre supérieure). L'invasion des structures adjacentes, y compris la propagation périneurale, est typique, le taux de métastases variant selon la localisation."},"de":{"name":"Plattenepithelkarzinom der Lippe","definition":"Ein seltener Kopf- und Halstumor, der durch eine fest infiltrierende Neoplasie mit Plattenepithel-Differenzierung gekennzeichnet ist, die am häufigsten am Saum des Lippenrotes der Unterlippe auftritt. Die Patienten stellen sich mit einer in der Regel asymptomatischen Läsion vor, die ein unterschiedliches Erscheinungsbild aufweist, wie z. B. eine Ulzeration, eine weißliche Verdickung, einen trockenen atrophischen Bereich oder einen Bereich mit anhaltender Rissbildung und lokalisierter Schuppung und Krustenbildung. Karzinome der Unterlippe neigen zu einem langsamen Fortschreiten (im Gegensatz zu Karzinomen der Oberlippe). Das Eindringen in benachbarte Strukturen, einschließlich perineuraler Ausbreitung, ist typisch, wobei die Metastasierungsrate je nach Lokalisation variiert."},"es":{"name":"Carcinoma de células escamosas del labio","definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia infiltrativa firme con diferenciación escamosa, que se origina, con mayor frecuencia, en el borde del bermellón del labio inferior. Los pacientes se presentan con una lesión, por lo general, asintomática de apariencia variable, como una úlcera, un foco con engrosamiento blanquecino, una zona seca atrófica o un área persistente agrietada con descamación y costras localizadas. Los carcinomas del labio inferior suelen progresar lentamente (a diferencia de los del labio superior). La invasión de estructuras adyacentes, incluyendo la diseminación perineural, es típica, con una tasa variable de metástasis, según la localización."},"it":{"name":"Carcinoma a cellule squamose del labbro","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia infiltrativa solida con differenziazione squamosa, di solito localizzata sulla porzione mucosa del labbro inferiore. I pazienti presentano una lesione in genere asintomatica di aspetto variabile, ad esempio un'ulcerazione, un focolaio di ispessimento biancastro, un'area atrofica secca o un'area con screpolatura persistente con desquamazione e croste localizzate. I carcinomi del labbro inferiore hanno una progressione lenta (al contrario di quelli del labbro superiore). È comune l'invasione delle strutture adiacenti, compresa la diffusione perineurale. La probabilità di metastasi è variabile e dipende dalla localizzazione."},"nl":{"name":"Plaveiselcelcarcinoom van lip","definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door een stevig, infiltratief neoplasma met squameuze differentiatie, dat doorgaans ontstaat ter hoogte van de vermiljoenrand van onderlip. Patiënten present eren zich met een meestal asymptomatische laesie met variabel uiterlijk, zoals ulceratie, een witachtige verdikking in het centrum, een droog atrofisch gebied, of een gebied met aanhoudende uitdroging en gelokaliseerde afschilfering en korstvorming. Carcinomen van onderlip vertonen eerder trage progressie (in tegenstelling tot carcinomen van bovenlip). Invasie van aangrenzende structuren, inclusief perineurale verspreiding, is typisch, met een variabele mate van metastase, afhankelijk van de locatie."},"pt":{"name":"Carcinoma de células escamosas do lábio"},"pl":{"name":"Rak płaskonabłonkowy wargi"},"cs":{"name":"Dlaždicobuněčný karcinom rtu"},"uk":{"name":"Плоскоклітинний рак губи","definition":"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location."},"zh":{"name":"唇部鳞状细胞癌"},"tr":{"name":"Dudağın skuamöz hücreli karsinomu"}},"xrefs":[{"source":"OMIM","code":"275355","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C00.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B60.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1635251327"},{"source":"MONDO","code":"0021427","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0280302","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064055","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":502369,"name":"Squamous cell carcinoma of oral cavity and lip","classifications":[200,202]}],"children":[],"genes":[{"symbol":"ING1","name":"inhibitor of growth family member 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10866301[PMID]","hgnc":"6062","ensembl":"ENSG00000153487","omim":"601566","loci":["13q34"]},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"11801303[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]},{"symbol":"TNFRSF10B","name":"TNF receptor superfamily member 10b","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"9721831[PMID]","hgnc":"11905","ensembl":"ENSG00000120889","omim":"603612","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.02,"area":"Worldwide","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID]"}],"phenotypes":null}