{"orpha":391651,"name":"Glomus tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391651/","orphanet_url":"https://www.orpha.net/en/disease/detail/391651","names":{"fr":{"name":"Tumeur glomique","synonyms":["Tumeur du glomus"],"definition":"Tumeur rare des tissus mous caractérisée par une lésion nodulaire composée de cellules très similaires aux cellules musculaires lisses du corps glomique normal. Ces tumeurs se développent le plus souvent dans la peau ou les tissus mous des extrémités distales, en particulier dans la région sous-unguéale, mais elles ont été décrites dans presque toutes les parties du corps. Elles se présentent sous la forme de tumeurs glomiques à l'aspect typique, de glomangiomatose (nodules multiples de tumeur glomique solide tapissant les parois vasculaires), de tumeurs glomiques symplastiques (présentant des atypies nucléaires marquées sans activité mitotique ni nécrose) ou malignes, et de tumeurs glomiques à potentiel de malignité incertain."},"de":{"name":"Glomustumor","definition":"Ein seltener Weichteiltumor, der durch eine knotige Läsion gekennzeichnet ist, die aus Zellen besteht, die den modifizierten glatten Muskelzellen des normalen Glomuskörpers sehr ähnlich sind. Die Tumoren treten am häufigsten in der Haut oder im Weichteilgewebe der distalen Extremitäten auf, insbesondere in der subungualen Region, es wurde aber auch über Tumoren an fast jeder anderen Stelle berichtet. Sie treten als typische Glomustumoren, Glomangiomatose (multiple Knötchen eines soliden Glomustumors, die in die Gefäßwände einwachsen), symplastische (mit auffälliger Kernatypie ohne mitotische Aktivität oder Nekrose) oder bösartige Glomustumoren und Glomustumoren mit ungewissem Malignitätspotenzial auf."},"es":{"name":"Tumor del glomus","synonyms":["Tumor del cuerpo carotídeo"],"definition":"Es un tumor de tejidos blandos poco frecuente caracterizado por una lesión nodular compuesta por células muy similares a las células de musculo liso modificadas del cuerpo glómico normal. Los tumores surgen con mayor frecuencia en la piel o en los tejidos blandos de la parte distal de las extremidades, en particular en la región subungueal, aunque se han descrito en casi cualquier lugar. Aparecen como tumores glómicos típicos, glomangiomatosis (múltiples nódulos de tumor glómico sólido revistiendo las paredes vasculares), simplásticos (mostrando una notable atipia nuclear sin actividad mitótica ni necrosis) o como tumores glómicos malignos, y tumores glómicos de potencial maligno incierto."},"it":{"name":"Tumore glomico","definition":"Si tratta di un tumore raro dei tessuti molli, caratterizzato da una lesione nodulare composta da cellule che assomigliano alle cellule modificate della muscolatura liscia del corpo glomico normale. I tumori originano per lo più dalla cute o dai tessuti molli della porzione distale degli arti, in particolare della zona subungueale, ma possono localizzarsi ovunque. Si manifestano sotto forma di tumore glomico tipico, di glomangiomatosi (noduli multipli del tumore glomico solido localizzati sulle pareti vascolari), di tumore simplastico (che presenta una marcata atipia nucleare in assenza di attività mitotica o necrosi) o tumore glomico maligno, e di tumore glomico con potenziale incerto di evoluzione maligna."},"nl":{"name":"Glomustumor","definition":"Een zeldzame tumor van weke delen, gekarakteriseerd door een nodulaire laesie bestaande uit cellen die sterk lijken op de gemodificeerde gladde spiercellen van normaal glomuslichaampje. De tumoren ontstaan meestal in huid of weke delen van distale ledematen, vooral subunguale gebieden, maar werden reeds op vele verschillende plaatsen waargenomen. Ze verschijnen als typische glomustumoren, glomangiomatose (multipele noduli van solide glomustumor die vaatwanden bekleden), symplastische (met opvallende kernatypieën zonder mitotische activiteit of necrose) of maligne glomustumoren, en glomustumoren met onzeker maligne potentieel."},"pt":{"name":"Tumor glómico"},"pl":{"name":"Kłębczak"},"cs":{"name":"Tumor glomu"},"uk":{"name":"Гломусна пухлина","definition":"A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential."},"zh":{"name":"血管球瘤","definition":"本病是一种罕见的软组织肿瘤，其特征是结节状病变，由与正常血管球的修饰平滑肌细胞非常相似的细胞组成。肿瘤最常发生在四肢远端的皮肤或软组织，尤其是甲下区，但在任何位置几乎都有报道。本病表现为典型的血管球瘤、血管球瘤病(包绕血管壁的多发性实性球瘤结节)、共生型(核异型性明显，无核分裂活性或坏死)或恶性血管球瘤，以及恶性潜能不明的血管球瘤。"},"tr":{"name":"Glomus tümörü"}},"xrefs":[{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2E81.0Z","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"1236842708"},{"source":"MONDO","code":"0018327","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017653","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018381","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[],"phenotypes":null}