{"orpha":499182,"name":"Pilomatrix carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Calcified epithelial carcinoma of Malherbe","Calcifying epitheliocarcinoma","Malignant pilomatricoma","Trichomatrical carcinoma"],"definition":"A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-499182/","orphanet_url":"https://www.orpha.net/en/disease/detail/499182","names":{"fr":{"name":"Carcinome pilomatriciel","synonyms":["Carcinome trichomatriciel","Epithéliocarcinome de Malherbe","Epithéliome calcifié de Malherbe","Pilomatricocarcinome","Pilomatricome malin"],"definition":"Tumeur cutanée rare caractérisée par un nodule asymptomatique, solitaire, souvent ulcéré, situé le plus souvent au niveau du visage, et affectant le derme profond, le tissu sous-cutané, les muscles squelettiques et les fascias. Sur plan histopathologique, la lésion est composée d'agrégats de cellules basaloïdes atypiques avec de nombreuses mitoses. Ses caractéristiques typiques sont l'ombre de Gumprecht, des kystes avec kératine et des granules de trichohyaline et de kératohyaline. La tumeur est localement agressive et a tendance à récidiver après une excision incomplète. Des métastases régionales ganglionnaires ou viscérales ont été rapportées."},"de":{"name":"Pilomatrixkarzinom","synonyms":["Epithelkarzinom, kalzifizierendes","Kalzifiziertes Epithelkarzinom Malherbe","Pilomatrixom, malignes","Trichomatrisches Karzinom"],"definition":"Ein seltener Hauttumor, der durch ein asymptomatisches, solitäres, oft ulzeriertes Knötchen gekennzeichnet ist, das meist im Gesicht auftritt und die tiefe Dermis, das Unterhautgewebe, die Skelettmuskulatur und die Faszien befällt. Histopathologisch besteht die Läsion aus Aggregaten atypischer Basalzellen mit zahlreichen Mitosen. Typische Merkmale sind Schattenzellen, Keratinzysten sowie Trichohyalin- und Keratohyalingranula. Der Tumor ist lokal aggressiv und neigt nach unvollständiger Exzision zum Rezidiv. Lymphknoten- und viszerale Metastasen wurden beschrieben."},"es":{"name":"Carcinoma pilomatricial","synonyms":["Carcinoma epitelial calcificado de Malherbe","Carcinoma tricomatricial","Epiteliocarcinoma calcificado","Pilomatricoma maligno","Pilomatrixoma maligno"],"definition":"Es un tumor cutáneo poco frecuente caracterizado por un nódulo asintomático, aislado y a menudo ulcerado, localizado con mayor frecuencia en la cara, afectando a la dermis profunda, el tejido subcutáneo y el músculo esquelético y la fascia. Histopatológicamente, la lesión está compuesta por agregados de células basaloides atípicas con mitosis elevada. Las características típicas incluyen células sombreadas, quistes de queratina y gránulos de tricohialina y queratohialina. El tumor es localmente agresivo, mostrando tendencia a la recidiva después de una resección incompleta. Se ha descrito metástasis visceral o en ganglios linfáticos regionales."},"it":{"name":"Carcinoma pilomatricale","definition":"Si tratta di un tumore raro della cute, caratterizzato da un nodulo asintomatico, solitario, spesso ulcerato, di solito localizzato sul viso, che interessa il derma profondo, il tessuto sottocutaneo, il muscolo scheletrico e la fascia. Dal punto di vista istopatologico, la lesione è composta da aggregati di cellule basali atipiche con numerose mitosi. Le caratteristiche tipiche comprendono le cellule ombra, le cisti di cheratina e i granuli di tricoialina e cheratoialina. Il tumore è localmente aggressivo e tende a recidivare dopo un'escissione incompleta. Può associarsi a metastasi viscerali o nei linfonodi regionali."},"nl":{"name":"Pilomatrixcarcinoom","synonyms":["Calcificerend epitheelcarcinoom","Calcificerend epithelioom van Malherbe","Maligne pilomatricoom","Trichomatrisch carcinoom","Verkalkt epitheliaal carcinoom van Malherbe"],"definition":"Een zeldzame tumor van huid, gekarakteriseerd door een asymptomatische, solitaire, vaak ulcererende nodulus, meestal gelokaliseerd in aangezicht, met betrokkenheid van diepe dermis, onderhuids weefsel, en skeletspier en fascie. Histopathologisch is de laesie opgebouwd uit aggregaten van atypische basaloïde cellen met talloze mitosen. Typische kenmerken zijn onder meer schaduwcellen, keratiniserende cysten, en trichohyaliene en keratohyaliene granules. De tumor is lokaal agressief en heeft de neiging terug te keren na onvolledige excisie. Metastase in regionale lymfeklieren of ingewanden werd reeds gerapporteerd."},"pt":{"name":"Carcinoma pilomatrix"},"pl":{"name":"Rak macierzy włosa","synonyms":["Nabłoniak wapniejący złośliwy","Nabłoniakorak wapniejący","Rak nabłonkowy wapniejący Malherbego"]},"cs":{"name":"Pilomatrix karcinom","synonyms":["Malignant pilomatricoma","Trichomatrical carcinoma","Calcifying epitheliocarcinoma","Calcified epithelial carcinoma of Malherbe","Maligní pilomatrikom","Kalcifikující epiteliokarcinom","Malherbův kalcifikovaný epiteliální karcinom","Trichomatrikální karcinom"]},"uk":{"name":"Піломатріксна карцинома","synonyms":["Кальцинована епітеліальна карцинома Мальхербе","Кальцинуюча епітеліокарцинома","Злоякісна піломатрікома","Трихоматична карцинома"],"definition":"A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported."},"zh":{"name":"阴唇癌","synonyms":["Malherbe钙化上皮癌"]},"tr":{"name":"Pilomatriks karsinomu","synonyms":["Habis pilomatricoma","Trikomatrik karsinom","Kalsifiye epiteliyokarsinom","Malherbe'nin kalsifiye epitel karsinomu"]}},"xrefs":[{"source":"ICD-10","code":"C44.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C44.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0003414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0585475","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075614","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[],"phenotypes":null}