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2016 | OriginalPaper | Buchkapitel

4. Angeborene sklerosierende und hyperostotische Skelettveränderungen

verfasst von : J. Freyschmidt

Erschienen in: Skeletterkrankungen

Verlag: Springer Berlin Heidelberg

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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.

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

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

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

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

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

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 39:9–1CrossRef

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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:18–8CrossRef

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

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

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

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

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

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

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

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

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

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

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

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

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

Graham CB, Rudhe R, EkIöf P (1973) Osteopetrosis. In: Kaufmann HJ Intrinsic diseases of bones. Karger, Basel S 375 (Prog Pediat Radiol Vol 4)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 91:15–3CrossRef

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

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

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

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

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

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

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

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] 45:119–1CrossRef

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Titel: Angeborene sklerosierende und hyperostotische Skelettveränderungen
verfasst von: J. Freyschmidt
Verlag: Springer Berlin Heidelberg
Buch: Skeletterkrankungen
Print ISBN: 978-3-662-48136-3

Electronic ISBN: 978-3-662-48137-0

Copyright-Jahr: 2016
DOI: https://doi.org/10.1007/978-3-662-48137-0_4

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4. Angeborene sklerosierende und hyperostotische Skelettveränderungen

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Neu im Fachgebiet Radiologie

Wie toxische Männlichkeit der Gesundheit von Männern schadet

Studie bestätigt Potenzial von KI in der Radiologie

Quantitative Angiografie könnte IVUS-Alternative darstellen

Die Ganz-Genom-Sequenzierung startet

Update Radiologie