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Camurati–Engelmann disease: imaging, clinical features and differential diagnosis

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Abstract

We report four sporadic and three familial patients with Camurati–Engelmann disease. One patient had follow-up examinations over 8 years. Pain in the extremities and muscle weakness were common clinical symptoms. Most patients also had cranial nerve impairment, hepatosplenomegaly, a waddling gait, and elevated serum alkaline phosphatase levels. Long bones were affected in all. We discuss the differential diagnosis for this interesting bone entity.

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References

  1. Dannenmaier B, Weber B. Observations on the Camurati–Engelmann syndrome. Rofo. 1989; 151(2): 175–178.

    Article  CAS  Google Scholar 

  2. Greenfield GB. Radiology of bone diseases, (fourth edition). Philadelphia: Lippincott; 1986.

    Google Scholar 

  3. Vanhoenacker FM, De Beuckeleer LH, Van Hul W, et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 2000; 10: 1423–1433.

    Article  CAS  Google Scholar 

  4. Janssens K, Gershoni-Baruch R, Van Hul E, et al. Localisation of the gene causing diaphyseal dysplasia Camurati–Engelmann to chromosome 19q13. J Med Genet. 2000; 37: 245–249.

    Article  CAS  Google Scholar 

  5. Janssens K, Vanhoenacker F, Bonduelle M, et al. Camurati–Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006; 43: 1–11.

    Article  CAS  Google Scholar 

  6. Ramanan AV, Hall MJ, Baildam EM, Mughal Z. Camurati–Engelmann disease- a case report and literature review. Rheumatology. 2005; 44: 1069–1072.

    Article  CAS  Google Scholar 

  7. Simsek S, Janssens K, Kwee MI, Van Hul W, Veenstra J, Netelenbos JC. Camurati–Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. Osteoporos Int. 2005; 16: 1167–1170.

    Article  CAS  Google Scholar 

  8. Hundley JD, Wilson FC. Progressive diaphyseal dysplasia: review of the literature and report of seven cases in one family. J Bone Joint Surgery (Am). 1973; 55: 461–474.

    Article  CAS  Google Scholar 

  9. Mastragelopulos N, Bahr R, Pfister U. Camurati–Engelmann disease (progressive diaphyseal dysplasia). Differential diagnostic problems. Unfallchirurgie. 1989; 15(2): 104–107. Apr.

    CAS  PubMed  Google Scholar 

  10. McCarthy EF, Sack GH. Hyperphosphatasia with massive osteoectasia: a 45 year follow-up. Skeletal Radiol. 2007; 36: S2–S6.

    Article  Google Scholar 

  11. Nishimura G, Nidhimura H, Tanaka Y, et al. Camurati–Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet. 2002; 107: 5–11.

    Article  Google Scholar 

  12. Ruckij AV, Michailov AN. Rentgenodiagnosticheskiy atlas. Minsk: Visheiskaya shkola. 1987; 1: 12.

    Google Scholar 

  13. Saraiva JM. Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity. Am J Med Genet. 1997; 71(3): 348–352, Aug 22.

    Article  CAS  Google Scholar 

  14. Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati–Engelmann): radiographic follow-up and CT findings. Radiology. 1987; 164: 777–782.

    Article  CAS  Google Scholar 

  15. Shier CK, Krasicky GA, Ellis BI, Kottamasu SR. Ribbing's disease: radiographic-scintigraphic correlation and comparative analysis with Engelmann's disease. J Nucl Med. 1987; 28: 244–248.

    CAS  PubMed  Google Scholar 

  16. Clybouw C, Desmyttere S, Bonduelle M, Piepsz A. Camurati–Engelmann disease: contribution of bone scintigraphy to genetic counseling. Genet Couns. 1994; 5: 195–198.

    CAS  PubMed  Google Scholar 

  17. Vanhoenacker FM, Janssens K, Van Hul W, Gershoni-Baruch R, Brik R, De Schepper AM. Camurati–Engelmann disease. Review of radioclinical features. Acta Radiol. 2003; 44: 430–434.

    CAS  PubMed  Google Scholar 

  18. Greenspan A. Sclerosing bone dysplasias–a target site approach. Skeletal Radiol. 1991; 20(8): 561–583.

    Article  CAS  Google Scholar 

  19. Brat HG, Hamoir X, Matthijs P, Lambin P, Van Campenhoudt M. Camurati–Engelmann disease: a late and sporadic case with metaphyseal involvement. Eur Radiol. 1999; 9: 159–162.

    Article  CAS  Google Scholar 

  20. Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg. 1996; 78: 488–491.

    Article  CAS  Google Scholar 

  21. Vanhoenacker FM, Balemans W, Tan GJ. Van Buchem disease: lifetime evolution of radioclinical features. Skeletal Radiol. 2003; 32: 708–718.

    Article  Google Scholar 

  22. Irie T, Takahashi M, Kaneko M. Case report 546. Skeletal Radiol. 1989; 18: 310–313.

    Article  CAS  Google Scholar 

  23. Beals RK, McLoughlin SW, Teed RL, McDonald C. Dominant endosteal hyperostosis: skeletal characteristics and review of the literature. J Bone Joint Surg (Am). 2001; 83: 1643–1649.

    Article  CAS  Google Scholar 

  24. Sugiura Y, Yasuhara T. Sclerosteosis. J Bone Joint Surg (Am). 1975; 57: 273–277.

    Article  CAS  Google Scholar 

  25. Chanchairujira K, Chung CB, Man Lai Y, Haghighi P, Resnick D. Intramedullary osteosclerosis: imaging features in nine patients. Radiology. 2001;220:225–230.

    Article  CAS  Google Scholar 

  26. Beals RK, Pearson JM, Mansoor A. Ribbing disease: a case report, a review of the literature, and a description of novel treatment. J Bone Joint Surg (Am). 2002; 84: 2050–2055.

    Article  Google Scholar 

  27. Van Hul W, Bollerslev J, Gram J, et al. Localization of a gene for autosomal dominant osteopetrosis (Albers–Schoenberg Disease) to chromosome 1p21. Am J Hum Genet. 1997; 61: 363–369.

    Article  Google Scholar 

  28. Dunn V, Condon VR, Rallison ML. Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. AJR. 1979; 132: 541–545.

    Article  CAS  Google Scholar 

  29. Sakai T, Matsui Y, Katoh S, et al. Asynchronous progressive diaphyseal dysplasia. Mod Rheumatol. 2005; 15: 450–453.

    Article  Google Scholar 

  30. Wang Y, Yin Y, Gilula LA, Wilson AJ. Endemic fluorosis of the skeleton: radiographic features in 127 patients. AJR. 1994; 162: 93–98.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Clinic of Chest Diseases, Allergology and Radiology, Vilnius University Hospital Santariskiu klinikos, Santariskiu str. 2, LT 10325, Vilnius, Lithuania

    Aldona Bartuseviciene & Arturas Samuilis

  2. Department of Imaging Science, University of Rochester Medical Center, Rochester, NY, USA

    Jovitas Skucas

Authors
  1. Aldona Bartuseviciene
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  2. Arturas Samuilis
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  3. Jovitas Skucas
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Correspondence to Arturas Samuilis.

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Bartuseviciene, A., Samuilis, A. & Skucas, J. Camurati–Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol 38, 1037–1043 (2009). https://doi.org/10.1007/s00256-008-0642-1

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  • DOI: https://doi.org/10.1007/s00256-008-0642-1

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