{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T11:11:50Z","timestamp":1698318710179},"reference-count":26,"publisher":"Akademiai Kiado Zrt.","issue":"11","license":[{"start":{"date-parts":[[2022,3,13]],"date-time":"2022-03-13T00:00:00Z","timestamp":1647129600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,3,13]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold> A cherubismus ritka, autoszom\u00e1lis domin\u00e1nsan \u00f6r\u00f6kl\u0151d\u0151\n                    megbeteged\u00e9s. A fibroossealis elv\u00e1ltoz\u00e1sok csoportj\u00e1ba tartozik. Jellemz\u0151je az\n                    \u00e1llcsontok szimmetrikus duzzanata, a t\u00edpusos radiol\u00f3giai elv\u00e1ltoz\u00e1sok \u00e9s az\n                        <jats:italic>SH3BP2<\/jats:italic>-g\u00e9n mut\u00e1ci\u00f3ja. Sz\u00f6vettanilag nem k\u00fcl\u00f6n\u00fcl el az\n                    \u00f3ri\u00e1ssejtes granulom\u00e1t\u00f3l. A csontelv\u00e1ltoz\u00e1sok \u00e9s a fibroticus sz\u00f6vet\n                    felszaporod\u00e1sa pubert\u00e1s el\u0151tt kezd\u0151dik, ezut\u00e1n stagn\u00e1l\u00e1s vagy visszafejl\u0151d\u00e9s\n                    k\u00f6vetkezik be. A magyar orvosi irodalomban a szerz\u0151k els\u0151k\u00e9nt t\u00e1rgyalj\u00e1k h\u00e1rom\n                    testv\u00e9r k\u00f3rt\u00f6rt\u00e9nete alapj\u00e1n a cherubismust. A diagn\u00f3zist a hasonl\u00f3 klinikai\n                    t\u00fcnetek, a t\u00edpusos k\u00f3rlefoly\u00e1s, a szinte azonos radiol\u00f3giai k\u00e9p, a sz\u00f6vettan \u00e9s\n                    a genetikai elv\u00e1ltoz\u00e1sok biztos\u00edtj\u00e1k. A testv\u00e9rek \u00e9s az anya cs\u00edravonal\u00e1ban\n                    kimutatott azonos mut\u00e1ci\u00f3 akkor is megfelel egy domin\u00e1nsan \u00f6r\u00f6kl\u0151d\u0151 szindr\u00f3m\u00e1nak\n                    (p\u00e9ld\u00e1ul cherubismusnak), ha a betegs\u00e9g az any\u00e1ban klinikailag nem\n                    manifeszt\u00e1l\u00f3dott, de genetikailag igen. A szerz\u0151k \u00f6sszefoglalj\u00e1k a k\u00f3rk\u00e9p\n                    kezel\u00e9si lehet\u0151s\u00e9geit: a seb\u00e9szi (excochleatio, ,,decountouring\u201d, esetleg\n                    reszekci\u00f3) \u00e9s a gy\u00f3gyszeres (biszfoszfon\u00e1t, kalcitonin, szteroid stb.) ter\u00e1pi\u00e1t.\n                    Egyezik a v\u00e9lem\u00e9ny\u00fck azok\u00e9val, akik azon az \u00e1ll\u00e1sponton vannak, hogy a\n                    beavatkoz\u00e1sokkal v\u00e1rni kell, \u00e9s meg kell figyelni a betegeket a v\u00e1rhat\u00f3\n                    regresszi\u00f3 miatt. Saj\u00e1t eseteikben csak a n\u00f6vekv\u0151 tumorr\u00e9sz excochleati\u00f3j\u00e1t\n                    v\u00e9gezt\u00e9k, f\u0151leg kozmetikai okok \u00e9s a sz\u00f6vettan biztos\u00edt\u00e1sa \u00e9rdek\u00e9ben. Orv Hetil.\n                    2022; 163(11): 446\u2013452.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold> Cherubism is a rare autosomal, dominant bone disorder,\n                    characterised by symmetrical expansion of the jaws along the typical\n                    radiological and genetic (<jats:italic>SH3BP2<\/jats:italic> mutation) features. It belongs\n                    to the heterogenous group of fibro-osseous lesions. Its histology is the same as\n                    that of giant-cell granuloma. The bone lesions and fibrous tissue expansion\n                    increase before puberty and regress thereafter. For the first time in Hungarian\n                    medical literature, the authors discuss the condition of cherubism in the case\n                    of three siblings. The diagnosis of these three siblings is supported by the\n                    clinical, radiological, microscopic and genetic data. In all three, the bone\n                    lesions and fibrous tissue expansion increased before puberty and stabilized\n                    thereafter. The radiological results and the molecular findings were nearly\n                    identical. The identical mutation shown in the germ lines of the three siblings\n                    and the mother correspond to a dominantly inherited syndrome\n                        (<jats:italic>e.g.,<\/jats:italic> cherubism) even if the condition did not manifest in\n                    the mother. The authors summarize the treatment options of the disease: surgical\n                    (excochleation, decountouring, in rare case resection) and drug (bisphosphonate,\n                    calcitonin, steroid, etc.) therapy. They agree with those who are of the opinion\n                    that interventions should wait and the patients should be observed (\u201ewait and\n                    see\u201d) for the expected regression. In their own cases, only excochleation of the\n                    growing tumor was performed, mainly for cosmetic reasons and to secure the\n                    tissue. Orv Hetil. 2022; 163(11): 446\u2013452.<\/jats:p>","DOI":"10.1556\/650.2022.32309","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T09:50:55Z","timestamp":1668765055000},"page":"446-452","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["A cherubismus el\u0151fordul\u00e1sa h\u00e1rom testv\u00e9rben"],"prefix":"10.1556","volume":"163","author":[{"given":"No\u00e9mi","family":"J\u00e1kob","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, I. 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