{"orpha":538756,"name":"Familial multiple discoid fibromas","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial multiple trichodiscomas"],"definition":"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or <i>FLCN</i> gene locus mutation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538756/","orphanet_url":"https://www.orpha.net/en/disease/detail/538756","names":{"fr":{"name":"Fibromes discoïdes multiples familiaux","synonyms":["Trichodiscomes multiples familiaux"],"definition":"Tumeur rare de la peau d'origine génétique, caractérisée par l'apparition, pendant l'enfance, de multiples papules bénignes et asymptomatiques, de couleur blanche à chaire, principalement localisées sur le visage, les oreilles, la nuque et le tronc, sans aucune association avec une atteinte organique systémique, des tumeurs malignes ou une mutation du gène <i>FLCN</i>."},"de":{"name":"Familiäre multiple hereditäre diskoide Fibrome","synonyms":["Trichodiskom, familiäres multiples"],"definition":"Eine seltene, genetisch bedingte Hauttumorerkrankung, die durch das Auftreten multipler, gutartiger, asymptomatischer, weißer bis fleischfarbener Papeln im Kindesalter gekennzeichnet ist, die sich vorwiegend im Gesicht, an den Ohren, am Hals und am Rumpf befinden. Eine systemische Organbeteiligung, Malignome und Mutationen im <i>FLCN</i>-Gen liegen nicht vor."},"es":{"name":"Fibromas discoides múltiples familiares","synonyms":["Tricodiscomas múltiples familiares"],"definition":"Es un trastorno tumoral cutáneo, de origen genético y poco frecuente, caracterizado por múltiples pápulas benignas, asintomáticas, blancas o de color carne, de inicio en la infancia, localizadas predominantemente en la cara, las orejas, el cuello y el tronco, no asociadas con afectación sistémica de órganos, neoplasias o mutaciones en el locus del gen <i>FLCN</i>."},"it":{"name":"Fibromi discoidi multipli familiari","definition":"Si tratta di una neoplasia cutanea genetica rara, che esordisce nell'infanzia con papule multiple benigne, asintomatiche, bianche o color carne, localizzate soprattutto sul viso, sulle orecchie, sul collo e sul tronco. Non si associano a un interessamento sistemico degli organi, a tumori maligni o a mutazioni del locus del gene <i>FLCN</i>."},"nl":{"name":"Familiale multipele discoïde fibromen","synonyms":["Familiale multipele trichodiscomen"],"definition":"Een zeldzame, genetische tumor van huid, gekenmerkt door aanvang in de kindertijd van meervoudige, goedaardige, asymptomatische, witte tot huidkleurige papels voornamelijk gelokaliseerd op aangezicht, oren, hals en romp, niet geassocieerd met systemische betrokkenheid van organen, maligniteiten of mutatie in de <i>FLCN</i>-genlocus."},"pt":{"name":"Fibromas discoides múltiplo familiar"},"pl":{"name":"Włókniaki rodzinne liczne o kształcie dysku","synonyms":["Familial multiple trichodiscomas"],"definition":"Rzadka, genetycznie uwarunkowana choroba nowotworowa skóry charakteryzująca się występowaniem w dzieciństwie licznych, łagodnych, bezobjawowych grudek o barwie białej do cielistej, zlokalizowanych głównie na twarzy, uszach, szyi i tułowiu, niezwiązanych z zajęciem narządów wewnętrznych, nowotworami złośliwymi lub mutacją w locus genu FLCN."},"cs":{"name":"Familiární četné diskoidní fibromy","synonyms":["Familiární četné trichodiskomy"]},"uk":{"name":"Сімейні множинні дискоїдні фіброми","synonyms":["Сімейні множинні триходискоми"],"definition":"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or <i>FLCN</i> gene locus mutation."},"zh":{"name":"家族性多发性盘状纤维瘤","synonyms":["家族性多发性毛盘状瘤"],"definition":"一种罕见的遗传性皮肤肿瘤疾病，其特点是幼年时期多发、良性、无症状的白色至肉色丘疹，主要位于面部、耳部、颈部和躯干，不伴有全身器官受累、与恶性肿瘤或FLCN基因位点突变相关。"},"tr":{"name":"Ailesel çoklu diskoid fibromlar","synonyms":["Ailesel çoklu trikodiskomlar"]}},"xrefs":[{"source":"OMIM","code":"190340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D23.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008594","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536847","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860850","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8479","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":44.0,"area":"Worldwide","status":"Validated","source":"29067220[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29067220[PMID]"}],"phenotypes":null}