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Phakomatosen und verwandte Krankheitsbilder mit Skelettveränderungen

  • J. Freyschmidt

Zusammenfassung

Phakomatosen sind sehr seltene Krankheitsbilder, auf die der Radiologe aber vorbereitet sein sollte, denn nicht selten liegt der Schlüssel zur korrekten Diagnose im Projektionsradiogramm oder einem anderen radiologischen Verfahren. Das gilt ganz besonders für die polyzystische lipomembranöse Osteodysplasie und die Neurofibromatose.

Literatur

  1. Aoki S, Barkovich AJ, Nishimura K et al (1989) Neurofibromatosis types 1 and 2: cranial MR findings. Radiology 172:52–7Google Scholar
  2. Araki T, Ohba H, Monzawa S et al (1991) Membranous lipodystrophy: MR imaging appearance of the brain Radiology 180:79–3CrossRefGoogle Scholar
  3. Blinder G, Barki Y, Petz M et al (1984) Widespread osteolytic lesions of the long bones in basal cell nevus syndrome. Skeletal Radiol 12:19–6CrossRefGoogle Scholar
  4. Crawford AH, Bagamery N (1986) Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop 6:7–2CrossRefGoogle Scholar
  5. DeLone DR, Brown WD, Gentry LR (1999) Proteus syndrome: craniofacial and cerebral MRI. Neuroradiology 41:84–0CrossRefGoogle Scholar
  6. Erlemann R, Fischediek AR, Edel G et al (1987) Neurofibromatose und multiple nicht-ossifizierende Knochenfibrome. RÖFO 147:2–0Google Scholar
  7. Farah GR, Awidi AS (1985) Massive bleeding in neurofibromatosis associated with congenital hypofibrinogenaemia: a case report. Eur J Surg Oncol 11:5–7Google Scholar
  8. Fortman BJ, Kuszyk BS, Urban BA et al (2001) Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographic 21:60–1CrossRefGoogle Scholar
  9. Freyschmidt J, Freyschmidt G (1966) Haut-, Schleimhaut- und Skeletterkrankungen. SKIBO-Diseases. Springer, Berlin Heidelberg New YorkGoogle Scholar
  10. Gorlin RJ, Goltz RW (1960) Multipleneroid basal cell epithelium cysts and bifid rib syndrome. N Engl J Med 262:90–8CrossRefGoogle Scholar
  11. Gross ML, Soberman N, Dorfman HD et al (1989; Multiple non-ossifying fibromas of long bones in patient with neurofibromatosis (case report 556). Skeletal Radiol 18:38–9CrossRefGoogle Scholar
  12. Hakola HP (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232:1PubMedGoogle Scholar
  13. Hatlinghus S, Sager M (1982) Tuberous sclerosis: bone and lung changes mimicking metastatic malignancy. Eur J Radiol 2:9–0Google Scholar
  14. Jamis-Dow CA, Turner J, Biesecker LG et al (2004) Radiologic manifestations of Proteus syndrome. Radiographics 24:105–1CrossRefGoogle Scholar
  15. Koçer N, Dervisoglu S, Ersavasti G et al (1994) Case report 867. Skeletal Radiol 23:57–7CrossRefGoogle Scholar
  16. Köhler B, Hauke H (1989) Wirbelsäulenveränderungen bei Neurofibromatose im Kindesalter. RÖFO 151:18–6Google Scholar
  17. Kunz J, Maxeiner H (1997) Neurofibromatose-Typ-I-assoziierte Arteriopathie. Fallbericht und Literaturübersicht. Pathologe 18:48–0CrossRefGoogle Scholar
  18. Lin YC, Chen HC (2000) Rare complication of massive hermorrhage in neurofibromatosis with arteriovenous malformation. Ann Plast Surg 44:22–1Google Scholar
  19. Lotz W, Ebert M, Fasske E (1982) Die massive Osteolyse (Gorham-Stout-Syndrom) mit lokaler Neurofibromatose. RÖFO 137:5–5Google Scholar
  20. Madry H, Prudlo J, Grgic A, Freyschmidt J (2006) Nasu-Hakola Desease (PLOSL). Report of five cases and review of the literature. Clinical Orthopaedics and related research 454:26–2Google Scholar
  21. Mäkelä P, Järvi 0, Hakola P et al (1982) Radiologic changes of polycystic lipomembranous osteodysplasia. Skeletal Radiol 8:5–1Google Scholar
  22. Mandell GA, Dalinka MK, Coleman BG (1979) Fibröse Herde an den unteren Extremitäten bei Neurofibromatose. AJR 133:113–5CrossRefGoogle Scholar
  23. National Institutes of Health Consensus Development (1988) Neurofibromatosis. Arch Neurol 45:57–5Google Scholar
  24. Novak D, Bloss W (1976) Röntgenologische Aspekte des Basalzell- Naevus-Syndroms (Gorlin-Goltz-Syndrom). RÖFO 124:1–1Google Scholar
  25. Paloneva I, Kelstilä M, Wu J et al (2000) Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet 25:35–7CrossRefGoogle Scholar
  26. Pazzaglia UE, Benazzo F, Castelli C et al (1986) Membranous lipodystrophy, case report 381. Skeletal Radiol 15:47–4CrossRefGoogle Scholar
  27. Poston GJ, Grace PA, Venn G et al (1990) Recurrent near-fatal haemorrhage in von Recklingshausen‘s disease. Br J Clin Practice 44:75–5Google Scholar
  28. Rasko JE, North KN, Favaloro EJ et al (1995) Attenuated platelet sensitivity to collagen in patients with neurofibromatosis type 1. Br J Haematol 89:58–2CrossRefGoogle Scholar
  29. Riccardi VM (1992) The prenatal diagnosis of NF-1 and NF-2. J Dermatol 19:88–5CrossRefGoogle Scholar
  30. Rott HD, Fahsold R (1993) Klinik und Genetik der tuberösen Sklerose. Dtsch Ärztebl 90:C–274Google Scholar
  31. Seizinger BR (1993) NF-1: a prevalent cause of tumorigenesis in human cancer. Nat Genet 3:9–7CrossRefGoogle Scholar
  32. Sepehr MH, Vogel P, Krüger M (1984) Intrathorakale Meningozele bei der Neurofibromatose v. Recklinghausen. RÖFO 140:10–2Google Scholar
  33. Stevens KJ, Ludman CN, Sully L et al (1998) Magnetic resonance imaging of elephantiasis neuromatosa. Skeletal Radiol 27:69–6CrossRefGoogle Scholar
  34. Terry DG, Sauser DD, Gordon MD (1998) Intraosseous malignant peripheral nerve sheath tumor in a patient with neurofibromatosis. Skeletal Radiol 27:34–6CrossRefGoogle Scholar
  35. Warrier RT, Kini KR, Shumaker B et al (1986) Neurofibromatosis, factor IX deficiency, and rhabdomyosarcoma. Urology 28:29–5CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • J. Freyschmidt
    • 1
  1. 1.Klinikum Bremen-Mitte Beratungsstelle und ReferenzzentrumBremen

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