Skip to main content
SpringerLink
Log in

Angeborene sklerosierende und hyperostotische Skelettveränderungen

  • Chapter
Skeletterkrankungen

  • 4863 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 309.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 399.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Notes

  1. 1.

    Toulouse-Lautrec soll wegen der offenen Fontanellen einen hohen Hut mit Stahleinlage getragen haben.

Literatur

  • Andersen PE, Bollerslev J (1978) Heterogeneity of autosomal dominant osteopetrosis. Radiology 164:22–3

    Google Scholar 

  • Arany L, Tamami M, Kollar J (1988) Pyknodysostosis: presentation of a new case. RÖFO 149:44–2

    Google Scholar 

  • Arora R, Aggarwal S, Deme S (2015) Ghosal hematodiaphyseal dyplasia - a concise review including an illustrative patient. Skeletal Radiol 44:44–7

    Article  Google Scholar 

  • Baer SC, Ayala AG, Ro JY et al (1994) Malignant fibrous histiocytoma of the femur arising in melorheostosis. Case report 843. Skeletal Radiol 23:31–0

    Article  Google Scholar 

  • 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 39:9–1

    Article  Google Scholar 

  • Bartuseviciene A, Samulis A, Skucas J (2009) Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol 38:103–7

    Article  Google Scholar 

  • Bekker PJ, Holloway D, Nakanishi A et al (2001) The effect of a single dose of osteoprotegerin in postmenopausal women. J Bone Miner Res 16:34–8

    Article  Google Scholar 

  • Beighton P, Cremin BJ (1980) Sclerosing bone dysplasias. Springer, Berlin Heidelberg New York

    Book  Google Scholar 

  • Beighton P, Cremin BJ, Hamersma H (1976) The radiology of sclerosteosis. Br J Radiol 49:93–4

    Article  Google Scholar 

  • Bessler W, Egloff B, Sulser H (1984) Gardner Syndrome with aggressive fibromatosis (case report 253). Skeletal Radiol 11:5–6

    Google Scholar 

  • Bollerslev J, Andersen PE Jr (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 9:7

    Article  CAS  PubMed  Google Scholar 

  • Bollerslev J, Andersen PE Jr (1989) Fracture patterns in two types of autosomal dominant osteopetrosis. Acta Orthop Scand 60:11–0

    Article  Google Scholar 

  • Bostman OM, Holmstrom T, Riska EB (1987) Osteosarcoma arising in a melorheostotic femur. J Bone Joint Surg (Am) 69:123–2

    Article  Google Scholar 

  • Brennan SS, Bruzzi JF, Thakore H et al (2002) Osteosarcoma arising in a femur with melorheostosis and osteopathia striata. Skeletal Radiol 31:47–1

    Article  Google Scholar 

  • Brown RR, Steiner G, Lehman WB (2000) Melorheostosis: case report with radiologic-pathologic correlation. Skeletal Radiol 29:54–8

    Article  Google Scholar 

  • Buchem FSP van (1971) Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand 189:25–7

    Google Scholar 

  • Campbell CJ, Papademetriou T, Bonfiglio M (1968) Melorheostosis. A report of clinical roentgenographic and pathological findings in fourteen cases. J Bone Joint Surg [Am] 50:128–1

    Article  Google Scholar 

  • Claus HG (1964) Gibt es eine streifige Form der Osteopoikilie? RÖFO 101:52–2

    Google Scholar 

  • Colla F, Brühlmann P, Panizzon R et al (1995) Osteopoikilie. Haut- und Gelenkmanifestation. Z Rheumatol 54:12–3

    Google Scholar 

  • Costelloe CM, Eftekhari F, Petropoulos D (2007) Radiography of successful bone marrow transplantation for osteopetrosis. Skeletal Radiol 36:3–4

    Article  Google Scholar 

  • Crisp AJ Brenton DP, Shaw DG (1982) Engelmann disease of bone with bilateral shortened fibula. Skeletal Radiol 8:23–9

    Article  Google Scholar 

  • 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:18–8

    Article  Google Scholar 

  • Delcambre B, Flipo RM, Leroux JL et al (1989) Osteomesopyknosis. Report of two cases. Skeletal Radiol 18:2–1

    Article  Google Scholar 

  • Donáth J, Poór G, Kiss C (2002) Atypical form of active melorheostosis and its treatment with bisphosphonate. Skeletal Radiol 31:70–9

    Google Scholar 

  • Eddy R, Resendes M, Genant H (1992) Osteopetrosis with carbonic anhydrase II deficiency. Case report 718. Skeletal Radiol 21:13–5

    Article  Google Scholar 

  • El-Tawil T, Stoker DJ (1993) Benign osteopetrosis: a review of 42 cases showing two different patterns. Skeletal Radiol 22:58–7

    Article  Google Scholar 

  • Freyschmidt J (2001) Melorheostosis: a review of 23 cases. Eur Radiol 11:47–4

    Article  Google Scholar 

  • Freyschmidt J, Freyschmidt G (1996) Haut-, Schleimhaut- und Skeletterkrankungen. SKIBO-DISEASES. Springer, Berlin Heidelberg New York Tokyo

    Book  Google Scholar 

  • Friedel W, Möslein G, Jaeger K et al (1991) Familiäre adenomatöse Polyposis. Dtsch Ärztebl 88/15: B–851

    Google Scholar 

  • Garver P, Resnick D, Haghighi P et al (1982) Melorheostosis of the axial skeleton with associated fibrolipomatous lesions. Skeletal Radiol 9:4–1

    Article  Google Scholar 

  • Gehweiler J, Bland W, Carden TS et al (1973) Osteopathia striata - Voorhoeve's disease. Review of the roentgen manifestations. AJR 118:45–0

    Article  Google Scholar 

  • Gelman MI (1977) Autosomal dominant osteosclerosis. Radiology 125:28–9

    Article  Google Scholar 

  • 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 22:20–6

    Google Scholar 

  • Goltz RW, Henderson RR, Hitch JH et al (1970) Focal dermal hypoplasia syndrome. Arch Dermatol 101:1

    Article  CAS  PubMed  Google Scholar 

  • Golub DS, McAlister WH, Mills BG et al (1996) Juvenile Paget disease: lifelong features of a mildly affected young woman. J Bone Miner Res 11:13–2

    Google Scholar 

  • 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 

  • Greenspan A, Steiner G, Sotelo D et al (1986) Mixed sclerosing bone dysplasia coexisting with dyspIasia epiphyseaIis hemimeIica (Trevor-Fairbank disease). Skeletal Radiol 15: 45–2

    Article  Google Scholar 

  • Happle R (2004) Melorheostosis may originate as type 2 segmental manifestation of osteopoikilosis. Am J Med Genet 58:19–9

    Google Scholar 

  • Harned RK, Buck JL, Olmsted WW et al (1991) Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR 156:4–8

    Article  Google Scholar 

  • Heselson NG, Raad MS, Hamersma H et al (1979) The radiological manifestations of metaphyseal dysplasia (Pyle's disease). Br J Radiol 52:43–1

    Article  Google Scholar 

  • Hofbauer LC, Heufelder AE (2001) Role of receptor activator of nuclear factorkappa B ligand and osteoprotegerin in bone cell biology. J Mol Med 79:24–3

    Article  Google Scholar 

  • 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) 55:46–1

    Google Scholar 

  • Horton WA, Schimke RN, Iyama T (1980) Osteopetrosis: further heterogeneity. J Pediatr 97: 58–0

    Article  Google Scholar 

  • Irie T, Takahashi M, Kaneko M (1989) Case report 546 (Endosteal hyperostosis, Worth type). Skeletal Radiol 18:31–0

    Article  Google Scholar 

  • Jaffe HL (1972) Metabolic, degenerative and inflammatory diseases of bones and joints. Urban & Schwarzenberg, München, p 22–6

    Google Scholar 

  • Janousek J, Preston DF, Martin NL et al (1976) Bone scan in melorheostosis. J Nucl Med 17:110–6

    Google Scholar 

  • Judkiewicz AM, Murphy MD, Resnik CS et al (2001) Advanced imaging of melorheostosis with emphasis on MRI. Skeletal Radiol 30:44–7

    Article  Google Scholar 

  • Kaftori JK, KIeinhaus U, Naveh Y (1987) Progressive diaphyseal dysplasia (Camurati-EngeImann): radiographic follow-up and CT findings. Radiology 164:77–7

    Article  Google Scholar 

  • Kaibara N, Katsuki I, Hotokebuchi T et aI. (1982) Intermediate form of osteopetrosis with recessive inheritance. Skeletal RadioI 9:4–7

    Google Scholar 

  • 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 30:4–8

    Google Scholar 

  • Key LL Jr, Rodriguiz RM, WilIi SM et al (1995) Long-term treatment of osteopetrosis with recombinant human Interferon gamma. N Engl J Med 332:159–4

    Article  Google Scholar 

  • Khurana JS, Ehara SH, Rosenberg AE (1988) Case report 510 (Melorheostosis of iIium, femur, and adjacent soft tissues). Skeletal RadioI 17:53–9

    Google Scholar 

  • Knockaert D, Dequeker J (1979) Osteopathia striata and focal dermal hypoplasia. Skeletal RadioI 4:22–3

    Google Scholar 

  • Kovacs CS, Lambert RGW, Lavoie GJ et al (1995) Centrifugal osteopetrosis: appendicular sclerosis with relative sparing of the vertebrae. Skeletal Radiol 24:2–7

    Article  Google Scholar 

  • Krook L, Whalen JP, Dorman HD et al (1981) Osteopetrosis: an interpretation of its pathogenesis. Skeletal Radiol 7:18–5

    Article  Google Scholar 

  • Lagier R, Mbakop A, BigIer A (1984) Osteopoikilosis: a radiological and pathological study. SkeIetal Radiol 11:16–1

    Google Scholar 

  • 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 6:41–5

    Google Scholar 

  • Lories RJ, Luyten FP (2001) Osteoprotegerin and osteoprotegerin-ligand balance: a new paradigm in bone metabolism providing new therapeutic targets. Clin Rheumatol 20:3

    Article  CAS  PubMed  Google Scholar 

  • 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 91:15–3

    Article  Google Scholar 

  • Maroteaux P, Lamy M (1965) The malady of Toulouse-Lautrec. JAMA 191:71–5

    Article  Google Scholar 

  • Maroteaux P (1970) Nomenclature internationale des maladies osseuses constitutionelles. Ann Radiol (Paris) 13:45–5

    Google Scholar 

  • Maroteaux P (1980) L’osteomesopycnose. Une nouvelle affection condensante de transmission dominante autosomique. Arch Fr Pédiatr 37:15–3

    Google Scholar 

  • Maxwell JR, Yao L, Eckhardt JJ (1994) Densely calcifying synovial sarcoma of the hip metastatic to the Jungs. Case report. Skeletal Radiol 23:67–3

    Article  Google Scholar 

  • McCarthy EF, Sack GH (2007) Hyperphosphatasia with massive osteoectasia: a 45-year follow-up. Skeletal Radiol 36:2

    Article  Google Scholar 

  • Melnick JC, Needles CT (1966) An undiagnosed bone dysplasia: a 2-famiIy study of 4 generations and 3 generations. AJR 97: 3–9

    Article  Google Scholar 

  • Morinaga T, Nakagawa N, Yasuda H et al (1998) Cloning and characterization of the gene encoding human oseoprotegerin/osteoclastogenesis-inhibitory factor. Eur J Biochem 254:68–5

    Article  Google Scholar 

  • 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] 45:119–1

    Article  Google Scholar 

  • Murray RO, McCredie J (1979) Melorheostosis and the sclerotomes: a radiological correlation. SkeIetal Radiol 4:5–7

    Google Scholar 

  • Nasu K, Kuroki Y, Nawano S et al (2002) Thoracic cage extent of melorheostosis depicted by multislice CT. Skeletal Radiol 31:46–4

    Article  Google Scholar 

  • Naveh Y, Alon U, Kaftori JK et al (1985) Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy. Pediatrics 75:32–1

    Google Scholar 

  • Neumann E, Schett G (2007) Knochenstoffwechsel. Molekulare Mechanismen. Z Rheumatol 66:28–6

    Article  Google Scholar 

  • Ohlsson A, Cumming WA, Paul A et al (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:37–1

    Google Scholar 

  • Raby N, Vivian G (1988) Case report 478 (Melorheostosis of the axiaI skeleton with associated intrathecal lipoma). Skeletal RadioI 17:21–6

    Google Scholar 

  • Resnick D, Niwayama G (eds) (1981) Diagnosis of bone and joint disorders. Saunders, Philadelphia, p 273–1

    Google Scholar 

  • Ribbing S (1949) Hereditary multiple diaphyseal sclerosis. Acta Radiol 31:52–2

    Article  Google Scholar 

  • Schellhammer F, Rapp M, Saleh A (2006) Melorheostose der HWS bei einem intraspinalen Lipom. RÖFO 178:81–6

    Google Scholar 

  • Schnyder PA (1980) Osseous changes of osteopathia striata associated with cranial scIerosis. Skeletal Radiol 5:1–9

    Article  Google Scholar 

  • Sly WS, Lang R, Avioli L et al (1972) Recessive osteopetrosis: new clinicaI phenotype. Am J Hum Genet 24 (Suppl): 34a

    Google Scholar 

  • 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 26:17–3

    Google Scholar 

  • Spranger J, Albrecht C, Rohwedder HJ et al (1968) Die Dysosteosklerose: eine Sonderform der generalisierten Osteosklerose. RÖFO 109: 50–4

    Google Scholar 

  • Tucker AS, Klein L, Antony GJ (1976) Craniodiaphyseal dysplasia: EvoIution over a five-year period. Skeletal Radiol 1:4–7

    Article  Google Scholar 

  • Vanhoenacker FM, Balemans W, Tan GJ (2003) Van Buchem disease: lifetime evolution of radioclinical features. Skeletal Radiol 32:70–8

    Article  Google Scholar 

  • WaIker GF (1964) Mixed scIerosing bone dystrophies. Two case reports. J Bone Joint Surg [Br] 46: 54–6

    Google Scholar 

  • Wendler H, KeIlerer K (1975) Osteodysplasie Syndrom (Melnick-Needles). RÖFO 122:30–9

    Google Scholar 

  • Worth HM, Wollin DG (1966) Hyperostosis corticaIis generalisata congenita. J Can Assoc Radiol 17: 6–7

    Google Scholar 

  • Whyte MP, Murphy WA, FalIon MD et al (1981) Mixed-scIerosing-bonedystrophy: report of a case and review of the literature. Skeletal Radiol 6:9–5

    Article  Google Scholar 

  • Whyte MP, Murphy WA, Siegel BA (1978) 99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata and melorheostosis. Radiology 127:43–9

    Article  Google Scholar 

  • Whyte MP, Obrecht SE, Finnegan PM et al (2002) Osteoprotegerin deficiency and juvenile Paget`s disease. N Engl J Med 347:17–5

    Article  Google Scholar 

  • Yu JS, Resnick D, Vaughan LM et al (1995) MeIorheostosis with an ossified soft tissue mass: MR features. Skeletal Radiol 24:36–7

    Article  Google Scholar 

  • Ziran N, Hill S, Wright ME (2002) Ribbing disease: radiographic and biochemical characterisation, lack of response to pamidronate. Skeletal Radiol 31:714

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Klinikum Bremen-Mitte Beratungsstelle und Referenzzentrum, Bremen

    J. Freyschmidt

Authors
  1. J. Freyschmidt
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Freyschmidt, J. (2016). Angeborene sklerosierende und hyperostotische Skelettveränderungen. In: Skeletterkrankungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-48137-0_4

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-48137-0_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-48136-3

  • Online ISBN: 978-3-662-48137-0

  • eBook Packages: Medicine (German Language)

Publish with us

Policies and ethics

Search

Navigation