{"orpha":206492,"name":"Vulvovaginal rhabdomyosarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206492/","orphanet_url":"https://www.orpha.net/en/disease/detail/206492","names":{"fr":{"name":"Rhabdomyosarcome vulvo-vaginal","definition":"Une tumeur vulvo-vaginale rare et un sarcome des tissus mous très malin, composé de cellules possédant un noyau rond, ovale ou en forme de fuseau et un cytoplasme éosinophile. La tumeur peut présenter une différenciation en cellules du muscle strié. Elle touche habituellement les enfants, et se manifeste par une masse vulvaire ou vaginale pouvant être polypoïde ou en forme de grappe (sous-type embryonnaire). Elle est associée à un saignement et une ulcération."},"de":{"name":"Rhabdomyosarkom, vulvovaginales","definition":"Das vulvovaginale Rhabdomyosarkom ist ein hochmalignes Weichteilsarkom, das aus Zellen mit runden bis ovalen oder spindelförmigen Kernen und eosinophilem Zytoplasma besteht, die eine Differenzierung zu quergestreiften Muskelzellen aufweisen können. Es betrifft in der Regel Kinder und präsentiert sich mit einer vulvären oder vaginalen Masse, die polypoid oder traubenförmig sein kann (embryonaler Subtyp) und mit Blutungen und Ulzerationen einhergeht."},"es":{"name":"Rabdomiosarcoma vulvovaginal","definition":"El rabdomiosarcoma vulvovaginal, es un tumor vulvovaginal poco frecuente, un sarcoma de tejido blando altamente maligno compuesto de células con núcleos redondos, ovalados o en forma de huso y citoplasma eosinofílico que puede mostrar diferenciación a células musculares estriadas. Por lo general, se presenta en niñas como una masa vulvar o vaginal que puede ser polipoide o en forma de racimo de uvas (subtipo embrionario) asociada a sangrado y ulceración."},"it":{"name":"Rabdomiosarcoma vulvovaginale","definition":"Il rabdomiosarcoma vulvovaginale è una neoplasia rara ed un sarcoma altamente maligno dei tessuti molli, composto da cellule con nuclei arrotondati, ovali o fusiformi e citoplasma eosinofilo, che può differenziarsi nelle cellule dei muscoli striati. Di solito esordisce nelle bambine sotto forma di una massa vulvare o vaginale, polipoide o a grappolo (tipo embrionale), associata ad emorragie e ulcere."},"nl":{"name":"Vulvovaginaal rhabdomyosarcoom","definition":"Vulvovaginaal rhabdomyosarcoom is een zeldzame vulvovaginale tumor, een zeer maligne wekedelensarcoom bestaande uit cellen met ronde tot ovale of spoelvormige kernen en eosinofiel cytoplasma die mogelijk differentiatie vertonen naar dwarsgestreepte spiercellen. Het treft meestal kinderen en manifesteert zich met een vulvaire of vaginale massa die polypoïd of druifvormig (embryonaal subtype) kan zijn en die mogelijk is geassocieerd met bloeding en ulceratie."},"pt":{"name":"Rabdomiossarcoma do trato genital"},"pl":{"name":"Mięsak prążkowanokomórkowy sromu i pochwy"},"cs":{"name":"Vulvovaginální rabdomyosarkom"},"uk":{"name":"Вульвовагінальна рабдоміосаркома","definition":"Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration."},"zh":{"name":"外阴横纹肌肉瘤","definition":"外阴阴道横纹肌肉瘤是一种罕见的外阴阴道肿瘤，是一种高度恶性的软组织肉瘤，肿瘤细胞由圆形、椭圆形或梭形细胞核的细胞和嗜酸性细胞质组成，可向横纹肌细胞分化。其主要临床表现为外阴或阴道肿块，呈息肉状或葡萄状（胚胎型），伴出血和溃疡，多发生于儿童期。"},"tr":{"name":"Vulvovajinal rabdomyosarkom"}},"xrefs":[{"source":"ICD-10","code":"C52","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"154709545"},{"source":"UMLS","code":"C4707823","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":180312,"name":"Rare vulvovaginal tumor","classifications":[202,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}