{"orpha":498474,"name":"Hyaline fibromatosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, protein-losing enteropathy, increased susceptibility to infections, and severe failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498474/","orphanet_url":"https://www.orpha.net/en/disease/detail/498474","names":{"fr":{"name":"Fibromatose hyaline","definition":"Maladie génétique rare caractérisée par l'apparition, dans la petite enfance ou l'enfance, d'une croissance anormale de tissu fibreux hyalinisé, donnant lieu à de multiples nodules cutanés et/ou papules d'aspect nacré affectant principalement le cuir chevelu, les oreilles, le cou, le visage, les mains et les pieds. L'atteinte d'autres organes est à type d'hyperplasie gingivale, de lésions osseuses ostéolytiques et de contractures articulaires. Certains patients présentent une atteinte viscérale accompagnée d'une diarrhée réfractaire, d'une entéropathie par perte de protéines, d'une sensibilité accrue aux infections et d'un retard sévère de croissance staturo-pondérale."},"de":{"name":"Hyaline Fibromatose-Syndrom","definition":"Eine seltene genetisch bedingte Krankheit, bei der im Säuglings- oder Kindesalter ein abnormales Wachstum von hyalinisiertem fibrösem Gewebe einsetzt, das zu multiplen Hautknötchen und/oder perlschnurartigen Papeln führt, die vorwiegend die Kopfhaut, die Ohren, den Hals, das Gesicht, die Hände und die Füße betreffen. Die Beteiligung anderer Organe führt zu Zahnfleischhyperplasie, osteolytischen Knochenläsionen und Gelenkkontrakturen. Bei einigen Patienten kommt es zu einer viszeralen Beteiligung mit hartnäckiger Diarrhöe, Proteinverlust-Enteropathie, erhöhter Anfälligkeit für Infektionen und schwerer Gedeihstörung."},"es":{"name":"Síndrome de fibromatosis hialina","definition":"Es una enfermedad poco frecuente de origen genético caracterizada por un crecimiento anómalo de tejido fibroso hialino de inicio en el periodo de lactancia o en la infancia, dando lugar a múltiples nódulos cutáneos y/o pápulas perladas que afectan predominantemente al cuero cabelludo, a las orejas, al cuello, a la cara, a las manos y a los pies. La afectación de otros sitios anatómicos produce hiperplasia gingival, lesiones óseas osteolíticas y contracturas articulares. Algunos pacientes presentan afectación visceral con diarrea intratable, enteropatía pierde proteínas, mayor susceptibilidad a infecciones y fallo de medro grave."},"it":{"name":"Fibromatosi ialina","definition":"Si tratta di una malattia genetica rara, che esordisce nella prima infanzia o nell'infanzia con anomalie della crescita del tessuto fibroso ialinizzato, associate a noduli cutanei multipli e/o papule perlacee che interessano prevalentemente il cuoio capelluto, le orecchie, il collo, il viso, le mani e i piedi. Il coinvolgimento degli altri organi causa iperplasia delle gengive, lesioni scheletriche osteolitiche e contratture articolari. Alcuni pazienti presentano un interessamento viscerale associato a diarrea non trattabile, predisposizione alle infezioni e grave ritardo della crescita."},"nl":{"name":"Hyaliene fibromatose syndroom","definition":"Een zeldzame genetische aandoening, gekenmerkt door infantiel of in de kindertijd aanvangende abnormale groei van gehyaliniseerd fibreus weefsel, wat leidt tot multipele cutane noduli en/of parelachtige papels die voornamelijk scalp, oren, nek, aangezicht, handen en voeten aantasten. Betrokkenheid van andere organen resulteert in hyperplasie van gingiva, osteolytische botlaesies, en gewrichtscontracturen. Sommige patiënten vertonen viscerale betrokkenheid met refractaire diarree, enteropathie met eiwitverlies, verhoogde susceptibiliteit voor infectie, en ernstig groeifalen."},"pt":{"name":"Síndrome de fibromatose hialina"},"pl":{"name":"Zespół fibromatozy hialinowej","definition":"Rzadka choroba genetyczna charakteryzująca się nieprawidłowym wzrostem zhialinizowanej tkanki włóknistej o początku w wieku niemowlęcym lub dziecięcym, co powoduje powstawanie licznych guzków skórnych i/lub perłowych grudek, głównie na skórze głowy, uszach, szyi, twarzy, dłoniach i stopach. Zajęcie innych narządów powoduje przerost dziąseł, osteolityczne zmiany kostne i przykurcze stawów. U niektórych pacjentów występuje zajęci enarządów trzewnych z trudną do opanowania biegunką, enteropatia z utratą białka, zwiększona podatnością na infekcje i poważne zahamowanie wzrostu."},"cs":{"name":"Hyalinní fibromatóza"},"uk":{"name":"Синдром гіалінового фіброматозу","definition":"A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive."},"zh":{"name":"透明质纤维瘤病综合征"},"tr":{"name":"Hiyalin fibromatoz sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009229","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574677","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","classifications":[147,156,199]},{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]}],"children":[{"orpha":2176,"name":"Infantile systemic hyalinosis","type":"Clinical subtype"},{"orpha":2028,"name":"Juvenile hyaline fibromatosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ANTXR2","name":"ANTXR cell adhesion molecule 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14508707[PMID]","hgnc":"21732","ensembl":"ENSG00000163297","omim":"608041","loci":["4q21.21"],"via":{"orpha":2028,"name":"Juvenile hyaline fibromatosis"}},{"symbol":"ANTXR2","name":"ANTXR cell adhesion molecule 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14508707[PMID]","hgnc":"21732","ensembl":"ENSG00000163297","omim":"608041","loci":["4q21.21"],"via":{"orpha":2176,"name":"Infantile systemic hyalinosis"}}],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"25186005[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25186005[PMID]"}],"phenotypes":null}