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Published in: Skeletal Radiology 11/2009

01-11-2009 | Review Article

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

Authors: Aldona Bartuseviciene, Arturas Samuilis, Jovitas Skucas

Published in: Skeletal Radiology | Issue 11/2009

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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.
Literature
1.
go back to reference Dannenmaier B, Weber B. Observations on the Camurati–Engelmann syndrome. Rofo. 1989; 151(2): 175–178.CrossRef Dannenmaier B, Weber B. Observations on the Camurati–Engelmann syndrome. Rofo. 1989; 151(2): 175–178.CrossRef
2.
go back to reference Greenfield GB. Radiology of bone diseases, (fourth edition). Philadelphia: Lippincott; 1986. Greenfield GB. Radiology of bone diseases, (fourth edition). Philadelphia: Lippincott; 1986.
3.
go back to reference Vanhoenacker FM, De Beuckeleer LH, Van Hul W, et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 2000; 10: 1423–1433.CrossRef Vanhoenacker FM, De Beuckeleer LH, Van Hul W, et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 2000; 10: 1423–1433.CrossRef
4.
go back to reference 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.CrossRef 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.CrossRef
5.
go back to reference 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.CrossRef 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.CrossRef
6.
go back to reference Ramanan AV, Hall MJ, Baildam EM, Mughal Z. Camurati–Engelmann disease- a case report and literature review. Rheumatology. 2005; 44: 1069–1072.CrossRef Ramanan AV, Hall MJ, Baildam EM, Mughal Z. Camurati–Engelmann disease- a case report and literature review. Rheumatology. 2005; 44: 1069–1072.CrossRef
7.
go back to reference 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.CrossRef 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.CrossRef
8.
go back to reference 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.CrossRef 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.CrossRef
9.
go back to reference Mastragelopulos N, Bahr R, Pfister U. Camurati–Engelmann disease (progressive diaphyseal dysplasia). Differential diagnostic problems. Unfallchirurgie. 1989; 15(2): 104–107. Apr.PubMed Mastragelopulos N, Bahr R, Pfister U. Camurati–Engelmann disease (progressive diaphyseal dysplasia). Differential diagnostic problems. Unfallchirurgie. 1989; 15(2): 104–107. Apr.PubMed
10.
go back to reference McCarthy EF, Sack GH. Hyperphosphatasia with massive osteoectasia: a 45 year follow-up. Skeletal Radiol. 2007; 36: S2–S6.CrossRef McCarthy EF, Sack GH. Hyperphosphatasia with massive osteoectasia: a 45 year follow-up. Skeletal Radiol. 2007; 36: S2–S6.CrossRef
11.
go back to reference 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.CrossRef 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.CrossRef
12.
go back to reference Ruckij AV, Michailov AN. Rentgenodiagnosticheskiy atlas. Minsk: Visheiskaya shkola. 1987; 1: 12. Ruckij AV, Michailov AN. Rentgenodiagnosticheskiy atlas. Minsk: Visheiskaya shkola. 1987; 1: 12.
13.
go back to reference Saraiva JM. Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity. Am J Med Genet. 1997; 71(3): 348–352, Aug 22.CrossRef Saraiva JM. Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity. Am J Med Genet. 1997; 71(3): 348–352, Aug 22.CrossRef
14.
go back to reference Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati–Engelmann): radiographic follow-up and CT findings. Radiology. 1987; 164: 777–782.CrossRef Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati–Engelmann): radiographic follow-up and CT findings. Radiology. 1987; 164: 777–782.CrossRef
15.
go back to reference 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.PubMed 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.PubMed
16.
go back to reference Clybouw C, Desmyttere S, Bonduelle M, Piepsz A. Camurati–Engelmann disease: contribution of bone scintigraphy to genetic counseling. Genet Couns. 1994; 5: 195–198.PubMed Clybouw C, Desmyttere S, Bonduelle M, Piepsz A. Camurati–Engelmann disease: contribution of bone scintigraphy to genetic counseling. Genet Couns. 1994; 5: 195–198.PubMed
17.
go back to reference 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.PubMed 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.PubMed
18.
go back to reference Greenspan A. Sclerosing bone dysplasias–a target site approach. Skeletal Radiol. 1991; 20(8): 561–583.CrossRef Greenspan A. Sclerosing bone dysplasias–a target site approach. Skeletal Radiol. 1991; 20(8): 561–583.CrossRef
19.
go back to reference 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.CrossRef 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.CrossRef
20.
go back to reference Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg. 1996; 78: 488–491.CrossRef Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg. 1996; 78: 488–491.CrossRef
21.
go back to reference Vanhoenacker FM, Balemans W, Tan GJ. Van Buchem disease: lifetime evolution of radioclinical features. Skeletal Radiol. 2003; 32: 708–718.CrossRef Vanhoenacker FM, Balemans W, Tan GJ. Van Buchem disease: lifetime evolution of radioclinical features. Skeletal Radiol. 2003; 32: 708–718.CrossRef
22.
go back to reference Irie T, Takahashi M, Kaneko M. Case report 546. Skeletal Radiol. 1989; 18: 310–313.CrossRef Irie T, Takahashi M, Kaneko M. Case report 546. Skeletal Radiol. 1989; 18: 310–313.CrossRef
23.
go back to reference 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.CrossRef 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.CrossRef
24.
go back to reference Sugiura Y, Yasuhara T. Sclerosteosis. J Bone Joint Surg (Am). 1975; 57: 273–277.CrossRef Sugiura Y, Yasuhara T. Sclerosteosis. J Bone Joint Surg (Am). 1975; 57: 273–277.CrossRef
25.
go back to reference Chanchairujira K, Chung CB, Man Lai Y, Haghighi P, Resnick D. Intramedullary osteosclerosis: imaging features in nine patients. Radiology. 2001;220:225–230.CrossRef Chanchairujira K, Chung CB, Man Lai Y, Haghighi P, Resnick D. Intramedullary osteosclerosis: imaging features in nine patients. Radiology. 2001;220:225–230.CrossRef
26.
go back to reference 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.CrossRef 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.CrossRef
27.
go back to reference 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.CrossRef 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.CrossRef
28.
go back to reference Dunn V, Condon VR, Rallison ML. Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. AJR. 1979; 132: 541–545.CrossRef Dunn V, Condon VR, Rallison ML. Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. AJR. 1979; 132: 541–545.CrossRef
29.
go back to reference Sakai T, Matsui Y, Katoh S, et al. Asynchronous progressive diaphyseal dysplasia. Mod Rheumatol. 2005; 15: 450–453.CrossRef Sakai T, Matsui Y, Katoh S, et al. Asynchronous progressive diaphyseal dysplasia. Mod Rheumatol. 2005; 15: 450–453.CrossRef
30.
go back to reference Wang Y, Yin Y, Gilula LA, Wilson AJ. Endemic fluorosis of the skeleton: radiographic features in 127 patients. AJR. 1994; 162: 93–98.CrossRef Wang Y, Yin Y, Gilula LA, Wilson AJ. Endemic fluorosis of the skeleton: radiographic features in 127 patients. AJR. 1994; 162: 93–98.CrossRef
Metadata
Title
Camurati–Engelmann disease: imaging, clinical features and differential diagnosis
Authors
Aldona Bartuseviciene
Arturas Samuilis
Jovitas Skucas
Publication date
01-11-2009
Publisher
Springer Berlin Heidelberg
Published in
Skeletal Radiology / Issue 11/2009
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-008-0642-1

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