RSS-Feed abonnieren
DOI: 10.1055/s-2006-944766
© Georg Thieme Verlag KG Stuttgart · New York
Kraniofaziale Fibröse Dysplasie: Observieren oder Operieren?[*]
Craniofacial Fibrous Dysplasia: Scan Policy or Surgery?Publikationsverlauf
eingereicht 27. Oktober 2005
akzeptiert 20. Juni 2006
Publikationsdatum:
27. November 2006 (online)
![](https://www.thieme-connect.de/media/lro/200703/lookinside/thumbnails/10.1055-s-2006-944766-1.jpg)
Zusammenfassung
Hintergrund: Die molekularbiologische Aufschlüsselung der ätiologischen Zusammenhänge der Fibrösen Dysplasie (FD), die zunehmende Punktgenauigkeit von Schichtbildverfahren sowie der Einsatz der Navigation verlangt eine Überprüfung bisheriger Diagnostik- und Therapieverfahren. Methode: Anhand eines eigenen Patientenkollektivs bestehend aus 9 Patienten wurden die bisherigen Diagnose- und Therapieverfahren der kraniofazialen FD unter Berücksichtigung der Literatur analysiert. Ausgewertet wurden der Entscheidungsweg zur Diagnosefindung und die Therapiewahl. Ergebnis: Die Diagnosesicherung erfolgte entsprechend der neueren Literatur durch die moderne CT (Computertomographie)- und MRT (Magnetresonanztomographie)-Diagnostik. Die Knochenszintigraphie wurde nur ergänzend bei besonderen Fragestellungen eingesetzt. Zur Abgrenzung von anderen Knochentumoren erfolgte im Zweifelsfall die Histologiegewinnung in Ergänzung zu den radiologischen Untersuchungsergebnissen. Ziel einer operativen Intervention war die Schmerzreduktion, die Wiederherstellung der Funktion bei Kompressionssymptomen, die Wiedereröffnung der natürlichen Drainagewege sowie die Wiederherstellung der Gesichtssymmetrie mittels CAD-CAM (Computer Aided Design und Computer Aided Manufacturing). Schlussfolgerungen: Die modernen Schichtbildverfahren (CT und MRT) erlauben heute durch ihre hohe Auflösung bereits eine differenzialdiagnostische Abgrenzung der FD von anderen gutartigen Knochentumoren, aber auch von Knochenmalignomen. Die Therapie erfolgt konservativ oder chirurgisch in Abhängigkeit von Lokalisation und Ausdehnung der Erkrankung sowie den daraus resultierenden Beschwerden. Im Falle einer operativen Intervention mit nicht eindeutigem histologischem Ergebnis könnten zukünftig molekularbiologische Untersuchungen zur Diagnosefindung beitragen.
Abstract
Background: The aetiologic correlations of fibrous dysplasia (FD) are more and more decoded by molecular biology, improved imaging procedures, and the use of computer assisted surgery - thus a review of present diagnostics and therapy methods is evaluated. Method: The valid methods of diagnostic and therapy procedures of craniofacial FD were retrospectively analysed in a collective of 9 patients in consideration of literature. The criteria of the decision for diagnosis and surgical procedures were evaluated. Results: According to the literature, diagnosis was ascertained with modern CT and MRI scans. Bone szintigraphy was only used additionally in particular questions. In case of unclear radiological findings histomorphological procedures were used complementarily to distinguish FD from other bone tumors. The aim of surgical intervention was to reduce pain, to restore the function in compression symptoms, to recover original ostia, or to restore the natural geometry of the face. Conclusions: Current imaging procedures allow differential diagnosis from other benign bone tumors but also from malignancies. The therapy of FD is conservative (wait and scan) or operative in dependence on the localisation, the extension and the clinical manifestations of the disease. In the future molecular biological methods could function as supporting instrument for diagnosis if histomorphological results are not meaningful.
Schlüsselwörter
CAD-CAM - rapid prototyping Implantate - GNAS1-Gen - Fibröse Dysplasie
Key words
CAD-CAM - rapid prototyping implants - GNAS1 gene - fibrous dysplasia
1 Auszugsweise vorgetragen auf der 76. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Halschirurgie e. V., 4. - 8. 5. 2005, Erfurt
Literatur
-
1 Doren S E, Gebarski S, Hoff J T.
Tumors of the skull. In: Youmans JR (ed). Neurological Surgery. 4th edn. Philadelphia:; WB Saunders 1995; 5: 3017-3018 - 2 Heller A J, DiNardo L J, Massey D. Fibrous dysplasia, chondrosarcoma, and McCune-Albright syndrome. Am J Otolaryngol. 2001; 22 297-301
- 3 Nager G T, Kennedy D W, Kopstein E. Fibrous dysplasia: a review of the disease and its manifestations in the temporal bone. Ann Otol Rhinol Laryngol Suppl. 1982; 92 1-52
- 4 Ozbek C, Aygenc E, Fidan F, Tuna E U, Ozdem C. Fibrous dysplasia of the temporal bone. Ann Otol Rhinol Laryngol. 2003; 112 654-656
- 5 Wagner P, Heilmann P, Schulz A, Nawroth P, Kasperk C. Fibrous dysplasia: differential diagnosis from Paget's disease. Dtsch Med Wochenschr. 2002; 127 2264-2268
- 6 Neumann K, Gotze G, Holzhausen H J. Fibrous dysplasia of the petrous bone. HNO. 2003; 51 998-1001
- 7 Schwartz D T, Alpert M. The Malignant Transformation of Fibrous Dysplasia. Am J Med Sci. 1964; 247 1-20
- 8 Williams D M, Thomas R S. Fibrous dysplasia. J Laryngol Otol. 1975; 89 359-374
- 9 Faul S, Link J, Behrendt S, Rochels R. MRI features of craniofacial fibrous dysplasia. Orbit. 1998; 17 125-132
- 10 Hayward B E, Moran V, Strain L, Bonthron D T. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci. 1998; 95 15 475-15 480
- 11 von Recklinghausen F. Die fibröse oder deformierende Ostitis, die Osteomalacie und die osteoplastische Carcinose in ihren gegenseitigen Beziehungen. Berlin,. 1891; 13
- 12 Lichtenstein L. Polyostotic fibrous dysplasia. Arch Surg. 1938; 36 874-898
- 13 Jaffe H, Lichtenstein L. Solitary unicameral bone cyst: with emphasis on the roentgen picture, the pathologic appearance, and the pathogenesis. Arch Surg. 1942; 44 1004-1025
- 14 Daves M L, Yardley J H. Fibrous dysplasia of bone. Am J Med Sci. 1957; 234 590-606
- 15 Yagoda M R, Selesnick S H. Temporal bone fibrous dysplasia and cholesteatoma leading to the development of a parapharyngeal abscess. J Laryngol Otol. 1994; 108 51-53
- 16 Lustig L R, Holliday M J, McCarthy E F, Nager G T. Fibrous dysplasia involving the skull base and temporal bone. Arch Otolaryngol Head Neck Surg. 2001; 127 1239-1247
- 17 Harris W H, Dudley Jr H R, Barry R J. The natural history of fibrous dysplasia. An orthopaedic, pathological, and roentgenographic study. Am J Orthop. 1962; 44-A 207-233
- 18 Albright F, Butler A M, Hampton B A, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of 5 cases. N Engl J Med. 1937; 216 727-746
- 19 Cohen Jr M M, Howell R E. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg. 1999; 28 366-371
- 20 MacDonald-Jankowski D S. Fibro-osseous lesions of the face and jaws. Clin Radiol. 2004; 59 11-25
- 21 Smouha E E, Edelstein D R, Parisier S C. Fibrous dysplasia involving the temporal bone: report of three new cases. Am J Otol. 1987; 8 103-107
- 22 El Deeb M, Waite D E, Gorlin R J. Congenital monostotic fibrous dysplasia - a new possibly autosomal recessive disorder. J Oral Surg. 1979; 37 520-525
- 23 Dal Cin P, Kozakewich H P, Goumnerova L, Mankin H J, Rosenberg A E, Fletcher J A. Variant translocations involving 16q22 and 17p13 in solid variant and extraosseous forms of aneurysmal bone cyst. Genes Chromosomes Cancer. 2000; 28 233-234
- 24 Althof P A, Ohmori K, Zhou M, Bailey J M, Bridge R S, Nelson M, Neff J R, Bridge J A. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol. 2004; 17 518-525
- 25 Candeliere G A, Roughley P J, Glorieux F H. Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone. 1997; 21 201-206
- 26 Gejman P V, Weinstein L S, Martinez M, Spiegel A M, Cao Q, Hsieh W T, Hoehe M R, Gershon E S. Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics. 1991; 9 782-783
- 27 Warner D R, Weinstein L S. A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity. Proc Natl Acad Sci USA. 1999; 96 4268-4272
- 28 Weinstein L S, Shenker A, Gejman P V, Merino M J, Friedman E, Spiegel A M. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991; 325 1688-1695
- 29 Cohen Jr M M. Fibrous dysplasia is a neoplasm. Am J Med Genet. 2001; 98 290-293
- 30 Schwindinger W F, Francomano C A, Levine M A. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA. 1992; 89 5152-5156
- 31 Adler C P. Fibromyxoma of the femoral neck. J Cancer Res Clin Oncol. 1981; 101 183-189
- 32 Fries J W. The roentgen features of fibrous dysplasia of the skull and facial bones; a critical analysis of thirty-nine pathologically proved cases. Am J Roentgenol Radium Ther Nucl Med. 1957; 77 71-88
- 33 Pollandt K, Engels C, Werner M, Delling G. Fibrous dysplasia. Pathologe. 2002; 23 351-356
- 34 Tokano H, Sugimoto T, Noguchi Y, Kitamura K. Sequential computed tomography images demonstrating characteristic changes in fibrous dysplasia. J Laryngol Otol. 2001; 115 757-759
- 35 van Drunen B, Freyschmidt J. Standardized procedure for suspected bone tumor. Chirurg. 2002; 73 1153-1161
- 36 Devogelaer J P. New uses of bisphosphonates: osteogenesis imperfecta. Curr Opin Pharmacol. 2002; 2 748-753
- 37 Plotkin H, Rauch F, Zeitlin L, Munns C, Travers R, Glorieux F H. Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab.. 2003; 88 4569-4575
- 38 Kos M, Luczak K, Godzinski J, Klempous J. Treatment of monoostotic fibrous dysplasia with pamidronate. J Craniomaxillofac Surg. 2004; 32 10-15
- 39 Schipper J, Ridder G J, Spetzger U, Teszler C B, Fradis M, Maier W. Individual prefabricated titanium implants and titanium mesh in skull base reconstructive surgery. A report of cases. Eur Arch Otorhinolaryngol. 2004; 261 282-290
- 40 Schipper J, Maier W, Berlis A, Ridder G J. Computer-assisted surgery for a calculated bone resection in craniofacial fibrous dysplasia. HNO. 2005; 53 766-772
- 41 Pollandt K, Engels C, Kaiser E, Werner M, Delling G. Gsalpha gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma. Virchows Arch. 2001; 439 170-175
1 Auszugsweise vorgetragen auf der 76. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Halschirurgie e. V., 4. - 8. 5. 2005, Erfurt
Dr. Tanja D. Dämmrich
Universitäts-Hals-Nasen-Ohren-Klinik Freiburg
Killianstraße5
79106 Freiburg
eMail: Daemmrich@hno.ukl.uni-freiburg.de