Advertisement

Angeborene sklerosierende und hyperostotische Skelettveränderungen

  • J. Freyschmidt

Zusammenfassung

Die meisten angeborenen, mit mehr oder weniger ausgeprägten Hyperostosen einhergehenden Skeletterkrankungen sind selten und daher schwierig zu diagnostizieren. Derjenige, der radiologische Bilder befundet, sollte jedoch mit drei Krankheitsbildern, die mit einer Hyperostose einhergehen, vertraut sein: das sind die Osteopetrose oder Marmorknochenkrankheit, die Osteopoikilie und die Melorheostose.

Literatur

  1. Andersen PE, Bollerslev J (1978) Heterogeneity of autosomal dominant osteopetrosis. Radiology 164:22–3Google Scholar
  2. Arany L, Tamami M, Kollar J (1988) Pyknodysostosis: presentation of a new case. RÖFO 149:44–2Google Scholar
  3. Arora R, Aggarwal S, Deme S (2015) Ghosal hematodiaphyseal dyplasia - a concise review including an illustrative patient. Skeletal Radiol 44:44–7CrossRefGoogle Scholar
  4. Baer SC, Ayala AG, Ro JY et al (1994) Malignant fibrous histiocytoma of the femur arising in melorheostosis. Case report 843. Skeletal Radiol 23:31–0CrossRefGoogle Scholar
  5. Balemans W, Patel N, Ebeling M et al (2002) Identification of a 52 Kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39:9–1CrossRefGoogle Scholar
  6. Bartuseviciene A, Samulis A, Skucas J (2009) Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol 38:103–7CrossRefGoogle Scholar
  7. Bekker PJ, Holloway D, Nakanishi A et al (2001) The effect of a single dose of osteoprotegerin in postmenopausal women. J Bone Miner Res 16:34–8CrossRefGoogle Scholar
  8. Beighton P, Cremin BJ (1980) Sclerosing bone dysplasias. Springer, Berlin Heidelberg New YorkCrossRefGoogle Scholar
  9. Beighton P, Cremin BJ, Hamersma H (1976) The radiology of sclerosteosis. Br J Radiol 49:93–4CrossRefGoogle Scholar
  10. Bessler W, Egloff B, Sulser H (1984) Gardner Syndrome with aggressive fibromatosis (case report 253). Skeletal Radiol 11:5–6Google Scholar
  11. Bollerslev J, Andersen PE Jr (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 9:7CrossRefPubMedGoogle Scholar
  12. Bollerslev J, Andersen PE Jr (1989) Fracture patterns in two types of autosomal dominant osteopetrosis. Acta Orthop Scand 60:11–0CrossRefGoogle Scholar
  13. Bostman OM, Holmstrom T, Riska EB (1987) Osteosarcoma arising in a melorheostotic femur. J Bone Joint Surg (Am) 69:123–2CrossRefGoogle Scholar
  14. Brennan SS, Bruzzi JF, Thakore H et al (2002) Osteosarcoma arising in a femur with melorheostosis and osteopathia striata. Skeletal Radiol 31:47–1CrossRefGoogle Scholar
  15. Brown RR, Steiner G, Lehman WB (2000) Melorheostosis: case report with radiologic-pathologic correlation. Skeletal Radiol 29:54–8CrossRefGoogle Scholar
  16. Buchem FSP van (1971) Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand 189:25–7Google Scholar
  17. Campbell CJ, Papademetriou T, Bonfiglio M (1968) Melorheostosis. A report of clinical roentgenographic and pathological findings in fourteen cases. J Bone Joint Surg [Am] 50:128–1CrossRefGoogle Scholar
  18. Claus HG (1964) Gibt es eine streifige Form der Osteopoikilie? RÖFO 101:52–2Google Scholar
  19. Colla F, Brühlmann P, Panizzon R et al (1995) Osteopoikilie. Haut- und Gelenkmanifestation. Z Rheumatol 54:12–3Google Scholar
  20. Costelloe CM, Eftekhari F, Petropoulos D (2007) Radiography of successful bone marrow transplantation for osteopetrosis. Skeletal Radiol 36:3–4CrossRefGoogle Scholar
  21. Crisp AJ Brenton DP, Shaw DG (1982) Engelmann disease of bone with bilateral shortened fibula. Skeletal Radiol 8:23–9CrossRefGoogle Scholar
  22. Debeer P, Pykels E, Lammers J et al (2003) Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet 119A:18–8CrossRefGoogle Scholar
  23. Delcambre B, Flipo RM, Leroux JL et al (1989) Osteomesopyknosis. Report of two cases. Skeletal Radiol 18:2–1CrossRefGoogle Scholar
  24. Donáth J, Poór G, Kiss C (2002) Atypical form of active melorheostosis and its treatment with bisphosphonate. Skeletal Radiol 31:70–9Google Scholar
  25. Eddy R, Resendes M, Genant H (1992) Osteopetrosis with carbonic anhydrase II deficiency. Case report 718. Skeletal Radiol 21:13–5CrossRefGoogle Scholar
  26. El-Tawil T, Stoker DJ (1993) Benign osteopetrosis: a review of 42 cases showing two different patterns. Skeletal Radiol 22:58–7CrossRefGoogle Scholar
  27. Freyschmidt J (2001) Melorheostosis: a review of 23 cases. Eur Radiol 11:47–4CrossRefGoogle Scholar
  28. Freyschmidt J, Freyschmidt G (1996) Haut-, Schleimhaut- und Skeletterkrankungen. SKIBO-DISEASES. Springer, Berlin Heidelberg New York TokyoCrossRefGoogle Scholar
  29. Friedel W, Möslein G, Jaeger K et al (1991) Familiäre adenomatöse Polyposis. Dtsch Ärztebl 88/15: B–851Google Scholar
  30. Garver P, Resnick D, Haghighi P et al (1982) Melorheostosis of the axial skeleton with associated fibrolipomatous lesions. Skeletal Radiol 9:4–1CrossRefGoogle Scholar
  31. Gehweiler J, Bland W, Carden TS et al (1973) Osteopathia striata - Voorhoeve's disease. Review of the roentgen manifestations. AJR 118:45–0CrossRefGoogle Scholar
  32. Gelman MI (1977) Autosomal dominant osteosclerosis. Radiology 125:28–9CrossRefGoogle Scholar
  33. Goldman AB, Schneider R, Huvos AS et al (1993) Melorheostosis presenting as two soft-tissue masses with osseous changes limited to the axial skeleton. Case report 778. Skeletal Radiol 22:20–6Google Scholar
  34. Goltz RW, Henderson RR, Hitch JH et al (1970) Focal dermal hypoplasia syndrome. Arch Dermatol 101:1CrossRefPubMedGoogle Scholar
  35. Golub DS, McAlister WH, Mills BG et al (1996) Juvenile Paget disease: lifelong features of a mildly affected young woman. J Bone Miner Res 11:13–2Google Scholar
  36. Graham CB, Rudhe R, EkIöf P (1973) Osteopetrosis. In: Kaufmann HJ Intrinsic diseases of bones. Karger, Basel S 375 (Prog Pediat Radiol Vol 4)Google Scholar
  37. Greenspan A, Steiner G, Sotelo D et al (1986) Mixed sclerosing bone dysplasia coexisting with dyspIasia epiphyseaIis hemimeIica (Trevor-Fairbank disease). Skeletal Radiol 15: 45–2CrossRefGoogle Scholar
  38. Happle R (2004) Melorheostosis may originate as type 2 segmental manifestation of osteopoikilosis. Am J Med Genet 58:19–9Google Scholar
  39. Harned RK, Buck JL, Olmsted WW et al (1991) Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR 156:4–8CrossRefGoogle Scholar
  40. Heselson NG, Raad MS, Hamersma H et al (1979) The radiological manifestations of metaphyseal dysplasia (Pyle's disease). Br J Radiol 52:43–1CrossRefGoogle Scholar
  41. Hofbauer LC, Heufelder AE (2001) Role of receptor activator of nuclear factorkappa B ligand and osteoprotegerin in bone cell biology. J Mol Med 79:24–3CrossRefGoogle Scholar
  42. Hurdley JD, Wilson FC (1973) Progressive diaphyseal dysplasia: review of the literature and report of seven cases in one family. J Bone Joint Surg (Am) 55:46–1Google Scholar
  43. Horton WA, Schimke RN, Iyama T (1980) Osteopetrosis: further heterogeneity. J Pediatr 97: 58–0CrossRefGoogle Scholar
  44. Irie T, Takahashi M, Kaneko M (1989) Case report 546 (Endosteal hyperostosis, Worth type). Skeletal Radiol 18:31–0CrossRefGoogle Scholar
  45. Jaffe HL (1972) Metabolic, degenerative and inflammatory diseases of bones and joints. Urban & Schwarzenberg, München, p 22–6Google Scholar
  46. Janousek J, Preston DF, Martin NL et al (1976) Bone scan in melorheostosis. J Nucl Med 17:110–6Google Scholar
  47. Judkiewicz AM, Murphy MD, Resnik CS et al (2001) Advanced imaging of melorheostosis with emphasis on MRI. Skeletal Radiol 30:44–7CrossRefGoogle Scholar
  48. Kaftori JK, KIeinhaus U, Naveh Y (1987) Progressive diaphyseal dysplasia (Camurati-EngeImann): radiographic follow-up and CT findings. Radiology 164:77–7CrossRefGoogle Scholar
  49. Kaibara N, Katsuki I, Hotokebuchi T et aI. (1982) Intermediate form of osteopetrosis with recessive inheritance. Skeletal RadioI 9:4–7Google Scholar
  50. Kalbermatten MT, Vock P, Rüfenacht D et al (2001) Progressive melorheostosis in the peripheral and axial skeleton with asocciated avascular malformations: imaging findings over three decades. Skeletal Radiol 30:4–8Google Scholar
  51. Key LL Jr, Rodriguiz RM, WilIi SM et al (1995) Long-term treatment of osteopetrosis with recombinant human Interferon gamma. N Engl J Med 332:159–4CrossRefGoogle Scholar
  52. Khurana JS, Ehara SH, Rosenberg AE (1988) Case report 510 (Melorheostosis of iIium, femur, and adjacent soft tissues). Skeletal RadioI 17:53–9Google Scholar
  53. Knockaert D, Dequeker J (1979) Osteopathia striata and focal dermal hypoplasia. Skeletal RadioI 4:22–3Google Scholar
  54. Kovacs CS, Lambert RGW, Lavoie GJ et al (1995) Centrifugal osteopetrosis: appendicular sclerosis with relative sparing of the vertebrae. Skeletal Radiol 24:2–7CrossRefGoogle Scholar
  55. Krook L, Whalen JP, Dorman HD et al (1981) Osteopetrosis: an interpretation of its pathogenesis. Skeletal Radiol 7:18–5CrossRefGoogle Scholar
  56. Lagier R, Mbakop A, BigIer A (1984) Osteopoikilosis: a radiological and pathological study. SkeIetal Radiol 11:16–1Google Scholar
  57. Larregue M, Michel Y, Maroteaux J et al (1973) L’ostopathie strée et dysmorphies squelettiques assocées dans l’hypoplasie dermique en aires. Revue Rhum Mal Osteoartic 6:41–5Google Scholar
  58. Lories RJ, Luyten FP (2001) Osteoprotegerin and osteoprotegerin-ligand balance: a new paradigm in bone metabolism providing new therapeutic targets. Clin Rheumatol 20:3CrossRefPubMedGoogle Scholar
  59. Makita I, Mishimura G, Ikegawa S et al (2000) Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? Am J Med Genet 91:15–3CrossRefGoogle Scholar
  60. Maroteaux P, Lamy M (1965) The malady of Toulouse-Lautrec. JAMA 191:71–5CrossRefGoogle Scholar
  61. Maroteaux P (1970) Nomenclature internationale des maladies osseuses constitutionelles. Ann Radiol (Paris) 13:45–5Google Scholar
  62. Maroteaux P (1980) L’osteomesopycnose. Une nouvelle affection condensante de transmission dominante autosomique. Arch Fr Pédiatr 37:15–3Google Scholar
  63. Maxwell JR, Yao L, Eckhardt JJ (1994) Densely calcifying synovial sarcoma of the hip metastatic to the Jungs. Case report. Skeletal Radiol 23:67–3CrossRefGoogle Scholar
  64. McCarthy EF, Sack GH (2007) Hyperphosphatasia with massive osteoectasia: a 45-year follow-up. Skeletal Radiol 36:2CrossRefGoogle Scholar
  65. Melnick JC, Needles CT (1966) An undiagnosed bone dysplasia: a 2-famiIy study of 4 generations and 3 generations. AJR 97: 3–9CrossRefGoogle Scholar
  66. Morinaga T, Nakagawa N, Yasuda H et al (1998) Cloning and characterization of the gene encoding human oseoprotegerin/osteoclastogenesis-inhibitory factor. Eur J Biochem 254:68–5CrossRefGoogle Scholar
  67. Morris JM, Samilson RL, Corley CL (1963) Melorheostosis. Review of the literature and report of an interesting case with a nineteen-year follow-up. J Bone Joint Surg [Am] 45:119–1CrossRefGoogle Scholar
  68. Murray RO, McCredie J (1979) Melorheostosis and the sclerotomes: a radiological correlation. SkeIetal Radiol 4:5–7Google Scholar
  69. Nasu K, Kuroki Y, Nawano S et al (2002) Thoracic cage extent of melorheostosis depicted by multislice CT. Skeletal Radiol 31:46–4CrossRefGoogle Scholar
  70. Naveh Y, Alon U, Kaftori JK et al (1985) Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy. Pediatrics 75:32–1Google Scholar
  71. Neumann E, Schett G (2007) Knochenstoffwechsel. Molekulare Mechanismen. Z Rheumatol 66:28–6CrossRefGoogle Scholar
  72. Ohlsson A, Cumming WA, Paul A et al (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:37–1Google Scholar
  73. Raby N, Vivian G (1988) Case report 478 (Melorheostosis of the axiaI skeleton with associated intrathecal lipoma). Skeletal RadioI 17:21–6Google Scholar
  74. Resnick D, Niwayama G (eds) (1981) Diagnosis of bone and joint disorders. Saunders, Philadelphia, p 273–1Google Scholar
  75. Ribbing S (1949) Hereditary multiple diaphyseal sclerosis. Acta Radiol 31:52–2CrossRefGoogle Scholar
  76. Schellhammer F, Rapp M, Saleh A (2006) Melorheostose der HWS bei einem intraspinalen Lipom. RÖFO 178:81–6Google Scholar
  77. Schnyder PA (1980) Osseous changes of osteopathia striata associated with cranial scIerosis. Skeletal Radiol 5:1–9CrossRefGoogle Scholar
  78. Sly WS, Lang R, Avioli L et al (1972) Recessive osteopetrosis: new clinicaI phenotype. Am J Hum Genet 24 (Suppl): 34aGoogle Scholar
  79. Sorensen NL, Gudmundsen TE, Ostensen H (1997) Autosomal dominant osteopetrosis: report of a Norwegian family with radiographic or anamnestic findings differing from the generally accepted classification. Skeletal Radiol 26:17–3Google Scholar
  80. Spranger J, Albrecht C, Rohwedder HJ et al (1968) Die Dysosteosklerose: eine Sonderform der generalisierten Osteosklerose. RÖFO 109: 50–4Google Scholar
  81. Tucker AS, Klein L, Antony GJ (1976) Craniodiaphyseal dysplasia: EvoIution over a five-year period. Skeletal Radiol 1:4–7CrossRefGoogle Scholar
  82. Vanhoenacker FM, Balemans W, Tan GJ (2003) Van Buchem disease: lifetime evolution of radioclinical features. Skeletal Radiol 32:70–8CrossRefGoogle Scholar
  83. WaIker GF (1964) Mixed scIerosing bone dystrophies. Two case reports. J Bone Joint Surg [Br] 46: 54–6Google Scholar
  84. Wendler H, KeIlerer K (1975) Osteodysplasie Syndrom (Melnick-Needles). RÖFO 122:30–9Google Scholar
  85. Worth HM, Wollin DG (1966) Hyperostosis corticaIis generalisata congenita. J Can Assoc Radiol 17: 6–7Google Scholar
  86. Whyte MP, Murphy WA, FalIon MD et al (1981) Mixed-scIerosing-bonedystrophy: report of a case and review of the literature. Skeletal Radiol 6:9–5CrossRefGoogle Scholar
  87. Whyte MP, Murphy WA, Siegel BA (1978) 99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata and melorheostosis. Radiology 127:43–9CrossRefGoogle Scholar
  88. Whyte MP, Obrecht SE, Finnegan PM et al (2002) Osteoprotegerin deficiency and juvenile Paget`s disease. N Engl J Med 347:17–5CrossRefGoogle Scholar
  89. Yu JS, Resnick D, Vaughan LM et al (1995) MeIorheostosis with an ossified soft tissue mass: MR features. Skeletal Radiol 24:36–7CrossRefGoogle Scholar
  90. Ziran N, Hill S, Wright ME (2002) Ribbing disease: radiographic and biochemical characterisation, lack of response to pamidronate. Skeletal Radiol 31:714Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

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

Personalised recommendations