Zusammenfassung
Die fibröse Dysplasie kommt als monostotische oder polyostotische Erkrankung vor und wird zu den benignen Knochentumoren gerechnet. Als McCune-Albright-Syndrom hat sie dermatologische und endokrinologische Begleitsymptome. Sie beruht auf einer genetischen Störung, einer postzygotischen Mutation im GNAS-Gen, die zu einer Fehlregulation der Osteogenese im betroffen Knochenabschnitt führt. Die Schwächung des Knochens kann unterschiedliche Symptome auslösen, die von Schmerzen über akute Frakturen bis zu schwersten Knochenverbiegungen und dann nicht mehr gehfähigen Patienten reichen können. Mit geeigneten orthopädischen Therapieverfahren, z. B. der Frakturbehandlung, der Stabilisierung geschwächter Knochenbezirke und der Deformitätenkorrektur, können viele Patienten ein hohes schmerzfreies Mobilitätsniveau oder die am schwersten Betroffenen eine begrenzte Mobilität mit verbesserter Lebensqualität erreichen.
Abstract
Fibrous dysplasia is a benign intraosseous tumor disease which can be found in a monostotic or polyostotic form. In combination with dermatological and endocrine features it is known as McCune-Albright disease. Fibrous dysplasia originates from a genetic defect that has been identified as a postzygotic mutation of the GNAS gene leading to a malregulation of osteogenesis of the affected part of the bone. The weakening of the bone may result in isolated local pain, pathological fractures or severe deformation of the bones, which in the latter case results in loss of walking ability. Orthopedic treatment offers suitable methods to set and stabilize fractures, to strengthen weak areas of bone and to straighten out and stabilize deformed long bones. The treatment can help many patients to return to a high level of pain-free mobility or help the most affected patients lead a better life with a restricted but individual mobility.
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Wirth, T. Fibröse Dysplasie. Orthopäde 41, 993–1006 (2012). https://doi.org/10.1007/s00132-012-1996-6
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DOI: https://doi.org/10.1007/s00132-012-1996-6