{"orpha":137583,"name":"Vulvar intraepithelial neoplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["VIN","Vulvar intraepithelial tumor"],"definition":"A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritus/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosus or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137583/","orphanet_url":"https://www.orpha.net/en/disease/detail/137583","names":{"fr":{"name":"Néoplasie intraépithéliale de la vulve","synonyms":["Tumeur intraépithéliale de la vulve","VIN"],"definition":"Tumeur vulvovaginale rare caractérisée par une prolifération néoplasique intraépithéliale de l'épithélium vulvaire, se manifestant histologiquement par une prolifération de cellules basales atypiques avec atteinte de la couche basale, une hypertrophie des noyaux, une hyperchromasie, des cellules pléomorphes et une activité mitotique. Les patients sont souvent asymptomatiques, bien que prurit/douleurs/brûlures vulvaires, dysurie et/ou dysparéunie puissent être associés. Une atteinte anogénitale concomitante est fréquente. Deux sous-types ont été identifiés : néoplasie intraépithéliale de la vulve (NIV) classique et NIV différenciée. La NIV classique est généralement associée à l'infection par le HPV et se manifeste par des lésions multifocales en relief autour de l'introïtus vaginal et/ou des grandes lèvres, alors que la NIV différenciée est liée à une inflammation et à des lésions chroniques à type de plaques blanches ou roses mal délimitées qui sont souvent associées à un lichen scléreux ou à un lichen plan. L'hyperexpression de p16 détectée par immunohistochimie et un index de marquage par le Ki-67 élevé dans la NIV classique permet également de distinguer ce sous-type de la NIV différenciée, cette dernière n'exprimant jamais la protéine p16, mais exprimant p53."},"de":{"name":"Vulväre intraepitheliale Neoplasie","synonyms":["VIN","Vulvärer intraepithelialer Tumor"],"definition":"Ein seltener vulvovaginaler Tumor, der durch eine intraepitheliale neoplastische Proliferation des Vulvarepithels gekennzeichnet ist und histologisch eine Proliferation atypischer Basalzellen mit Basalschichtbeteiligung, vergrößerten Zellkernen, Hyperchromasie, pleomorphen Zellen und einer erhöhten Anzahl mitotischer Figuren aufweist. Die Patientinnen sind häufig asymptomatisch, obwohl vulväre Pruritis/Schmerz/Brennen, Dysurie und/oder Dyspareunie auftreten können. Eine gleichzeitige anogenitale Beteiligung ist häufig. Es gibt zwei Subtypen, VIN vom gewöhnlichen Typ (uVIN) und VIN vom differenzierten Typ (dVIN), wobei uVIN typischerweise mit einer HPV-Infektion assoziiert ist und multifokale, erhabene Läsionen um den Introitus und/oder die großen Schamlippen aufweist, während dVIN mit chronischen Entzündungen und Läsionen in Form von schlecht abgegrenzten rosa oder weißen Plaques einhergeht, die oft mit Lichen sclerosis oder Lichen planus assoziiert sind. Eine diffus positive p16-Immunhistochemie und ein hoher Ki-67-Proliferationsindex bei uVIN unterscheidet diesen Subtyp weiter von dVIN (wobei letzterer durchweg negativ für p16, aber p53-positiv ist)."},"es":{"name":"Neoplasia vulvar intraepitelial","synonyms":["NVI","Tumor vulvar intraepitelial"],"definition":"Es un tumor vulvovaginal poco frecuente caracterizado por la proliferación neoplásica intraepitelial del epitelio vulvar, presentando histológicamente proliferación de células basales atípicas con afectación de la capa basal, núcleos agrandados, hipercromasia, células pleomórficas y un incremento del número de figuras mitóticas. Los pacientes son frecuentemente asintomáticos, aunque pueden estar asociados prurito vulvar/ dolor/ ardor, disuria y/o dispareunia. Es frecuente la afectación anogenital concurrente. Existen dos subtipos, la NVI de tipo habitual (NVIh) y la NVI de tipo diferenciado (NVId), con la NVIh típicamente asociada con la infección por el VPH y presentando lesiones elevadas multifocales alrededor del introito y/o de los labios mayores, mientras que la NVId está relacionada con inflamación crónica y lesiones consistentes en placas rosadas o blanquecinas mal delimitadas que a menudo se asocian con liquen escleroso o liquen plano. La positividad difusa para p16 en pruebas inmunohistoquímicas y el alto valor de Ki-67 indicativo del índice de proliferación característicos de la NVIh diferencia aun más a éste subtipo de la NVId, siendo esta última consistentemente negativa para p16 mientras que presenta positividad para p53."},"it":{"name":"Neoplasia vulvare intraepiteliale","synonyms":["Tumore vulvare intraepiteliale","VIN"],"definition":"Si tratta di una neoplasia vulvovaginale rara, caratterizzata da una proliferazione neoplastica intraepiteliale dell'epitelio vulvare. Dal punto di vista istologico, è caratterizzata dalla proliferazione di cellule basali atipiche con interessamento dello strato basale, nuclei grandi, ipercromasia, cellule pleomorfe e un aumento del numero delle mitosi. Spesso le pazienti sono asintomatiche, ma possono presentare prurito/dolore/bruciore vulvare, disuria e/o dispareunia. È comune l'interessamento anogenitale. Sono stati individuati due sottotipi: la VIN classica (uVIN) e la VIN differenziata (dVIN). La prima forma di solito si associa all'infezione da HPV ed esordisce con lesioni multifocali in rilievo attorno all'orifizio vaginale e/o alle grandi labbra. La seconda forma è caratterizzata da infiammazione cronica e lesioni, che consistono in placche rosa o bianche scarsamente delimitate, spesso associate a lichen sclerosus o lichen planus. All'esame immunoistochimico, il sottotipo uVIN è diffusamente positivo per p16 e presenta una marcata proliferazione di Ki-67; il sottotipo dVIN invece è negativo per p16 e positivo per p53."},"nl":{"name":"Vulvaire intra-epitheliale neoplasie","synonyms":["Intra-epitheliale neoplasie van vulva","VIN","Vulvaire intra-epitheliale tumor"],"definition":"Een zeldzame vulvovaginale tumor die gekarakteriseerd wordt door intra-epitheliale neoplastische proliferatie van het vulvaire epitheel, en die histologisch proliferatie van atypische basale cellen vertoont met betrokkenheid van de basale laag, vergrote kernen, hyperchromasie, pleomorfe cellen en een verhoogd aantal spoelfiguren. Patiënten zijn frequent asymptomatisch, hoewel vulvaire pruritus/pijn/brandend gevoel, dysurie en/of dyspareunie geassocieerd kunnen zijn. Vaak is er gelijktijdige anogenitale betrokkenheid. Er bestaan twee subtypes, meestal type VIN (uVIN) en gedifferentieerd type VIN (dVIN); uVIN is doorgaans geassocieerd met HPV-infectie en presenteert zich met multifocale, verheven letsels rond de ingang van de vagina (introïtus) en/of de buitenste schaamlippen, terwijl dVIN gerelateerd aan chronische inflammatie en letsels bestaande uit vaag begrensde, roze of witte plaques die vaak geassocieerd zijn met lichen sclerosus of lichen planus. Diffuse positieve p16 immuunhistochemie en hoge Ki-67 proliferatie-index bij uVIN onderscheidt dit subtype verder van dVIN, aangezien dit laatste subtype consistent negatief is voor p16 maar positief voor p53."},"pt":{"name":"Neoplasia vulvar intraepitelial","synonyms":["Tumor intraepitelial vulvar","VIN"]},"pl":{"name":"Nowotwór wewnątrznabłonkowy sromu","synonyms":["Guz śródnabłonkowy sromu","Śródnabłonkowa neoplazja sromu"]},"cs":{"name":"Vulvární intraepiteliální neoplázie","synonyms":["Vulvární intraepiteliální nádor"]},"uk":{"name":"Вульварна інтраепітеліальна неоплазія","synonyms":["VIN","Вульварна інтраепітеліальна пухлина"],"definition":"A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritus/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosus or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity."},"zh":{"name":"外阴上皮内瘤变","synonyms":["外阴上皮内肿瘤"],"definition":"外阴上皮内瘤变是一种罕见的外阴肿瘤，以外阴上皮上皮内肿瘤增生为特征，组织学表现为不典型基底细胞增生并累及基底层、核增大、染色增多、多形性细胞和核分裂象增多。患者通常无症状，尽管外阴瘙痒/疼痛/灼烧，排尿困难和/或性交困难可能与此病相关。同时常累及肛门生殖器。两个亚型,常见类型VIN (uVIN)和分化类型VIN (dVIN)存在,uVIN通常是与HPV感染有关,多病灶,阴道口和/或大阴唇周围病灶增加,；dVIN与慢性炎症和损伤有关，包括界限不清的粉红色或白色斑块,通常为硬化苔癣或扁平苔癣。uVIN免疫组织化学显示p16弥漫阳性和Ki-67增殖指数高进一步将该亚型与dVIN区分开来，后者p16持续阴性，而p53呈阳性。"},"tr":{"name":"Vulvar intraepitelyal neoplazi","synonyms":["VIN","Vulvar intraepitelyal tümör"]}},"xrefs":[{"source":"ICD-10","code":"D07.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2E67.12","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"214973733"},{"source":"ICD-11","code":"2E67.13","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"482153699"},{"source":"ICD-11","code":"GA13.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"748678746"},{"source":"MONDO","code":"0005198","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346210","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":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2008[OTHER]"}],"phenotypes":null}