Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement

Ahmet Mete; Çağatay Andıç; Ayhan Özkur; Eda Parlak

Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement

Year 2009, Volume: 15 Issue: 1, 57 - 59, 01.02.2009

Ahmet Mete Çağatay Andıç Ayhan Özkur Eda Parlak

Abstract

Camurati-Engelmann hastalığı ya da ilerleyici diafizyel displazi, nadir, otozomal dominant geçişli bir kemik hastalığıdır. Özellikle uzun kemiklerin diafizlerini etkileyen ilerleyici genişleme ve skleroz bu hastalığın karakteristik özelliğidir. Vertebra ve toraks kafesi tutulumu sadece ciddi vakalarda görülmektedir. Bu olguda direk grafi ve BT incelemelerinde, bilateral femur ve tibia diafizlerinde, vertebralarda, pelvis ve kostalarda simetrik genişleme ve sklerozis izlendi. Lomber BT incelemelerinde bu hastalık için tipik olan özellikle arka elemanlardaki tutulum dikkat çekici idi. Vertebra korpuslarının, kostaların ve pelvis kemiklerinin eş zamanlı ve belirgin tutulumu ile sporadik oluşu bu olguyu dikkat çekici kılmaktadır. Literatürde bu kadar diffüz tutulumla karakterize olguya rastlamadık.

Keywords

Camurati-Engelmann hastalýðý, Kemik displazisi, Hiperostozis

References

1. Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, 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(l):l-ll 2. 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(1): 159-162
3. Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family
Osteoporos Int. 2005;16(9): 1167-1170
4. Bondestam J, Mayranpaa MK, Ikegawa S, Marttinen E, Kroger H, Makitie 0. Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
Clin Rheumatol. 2007;26(10): 1773-1777
5. Aggarwal P, Wali JP, Sharma SK. Progressive diaphyseal dysplasia: case report and literature review. Orthopedics
1990;13(8):901-904
6. Falion MD, Whyte MP, Murphy WA. Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form. J Bone Joint Surg Am
1980;62(3):465-472
7. Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow- up and CT findings. Radiology. 1987;164(3):777-782
8. Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg Br. 1996;78(3):488-491
9. Sparkes RS, Graham CB. Camurati-Engelmann disease
Genetics and clinical manifestations with a review of the literature. J Med Genet. 1972;9(l):73-85
10. Hundley JD, Wilson FC. Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. J Bone Joint Surg Am. 1973;55(3):461-474
11. Resnick D. Diagnosis of bone and joint disorders
3rd ed. Philadelphia: Saunders, 1995
12. Greenspan A. Sclerosing bone dysplasias-a target- site approach. Skeletal Radiol. 1991;20(8):561-583

Camurati-engelmann hastalığı: Vertebral ve pelvik tutulumla seyreden geç ve nadir sporadik olgu

Year 2009, Volume: 15 Issue: 1, 57 - 59, 01.02.2009

Ahmet Mete Çağatay Andıç Ayhan Özkur Eda Parlak

Abstract

Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare, autosomal dominantly inherited bone disease. Progressive expansion and sclerosis predominantly affecting the diaphyses of the long bones are the characteristic hallmarks of this disease. The vertebral and thoracic-cage involvement is seen only in the most severe cases. This case is of interest because of its markedly involvement of vertebral bodies, ribs and pelvis at the same time, severe form and sporadic presentation. Also we were not able to find a report such a kind of diffuse involvement in the literature.

Keywords

-

References

1. Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, 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(l):l-ll 2. 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(1): 159-162
3. Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family
Osteoporos Int. 2005;16(9): 1167-1170
4. Bondestam J, Mayranpaa MK, Ikegawa S, Marttinen E, Kroger H, Makitie 0. Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
Clin Rheumatol. 2007;26(10): 1773-1777
5. Aggarwal P, Wali JP, Sharma SK. Progressive diaphyseal dysplasia: case report and literature review. Orthopedics
1990;13(8):901-904
6. Falion MD, Whyte MP, Murphy WA. Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form. J Bone Joint Surg Am
1980;62(3):465-472
7. Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow- up and CT findings. Radiology. 1987;164(3):777-782
8. Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg Br. 1996;78(3):488-491
9. Sparkes RS, Graham CB. Camurati-Engelmann disease
Genetics and clinical manifestations with a review of the literature. J Med Genet. 1972;9(l):73-85
10. Hundley JD, Wilson FC. Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. J Bone Joint Surg Am. 1973;55(3):461-474
11. Resnick D. Diagnosis of bone and joint disorders
3rd ed. Philadelphia: Saunders, 1995
12. Greenspan A. Sclerosing bone dysplasias-a target- site approach. Skeletal Radiol. 1991;20(8):561-583

There are 17 citations in total.

Details

Primary Language	Turkish
Journal Section	Articles
Authors	Ahmet Mete This is me Çağatay Andıç This is me Ayhan Özkur This is me Eda Parlak This is me
Publication Date	February 1, 2009
Published in Issue	Year 2009 Volume: 15 Issue: 1

Cite

APA	Mete, A., Andıç, Ç., Özkur, A., Parlak, E. (2009). Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal, 15(1), 57-59.
AMA	Mete A, Andıç Ç, Özkur A, Parlak E. Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal. February 2009;15(1):57-59.
Chicago	Mete, Ahmet, Çağatay Andıç, Ayhan Özkur, and Eda Parlak. “Camurati-Engelmann Disease: A Late and Rare Sporadic Case With Vertebral and Pelvic Involvement”. Gaziantep Medical Journal 15, no. 1 (February 2009): 57-59.
EndNote	Mete A, Andıç Ç, Özkur A, Parlak E (February 1, 2009) Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal 15 1 57–59.
IEEE	A. Mete, Ç. Andıç, A. Özkur, and E. Parlak, “Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement”, Gaziantep Medical Journal, vol. 15, no. 1, pp. 57–59, 2009.
ISNAD	Mete, Ahmet et al. “Camurati-Engelmann Disease: A Late and Rare Sporadic Case With Vertebral and Pelvic Involvement”. Gaziantep Medical Journal 15/1 (February 2009), 57-59.
JAMA	Mete A, Andıç Ç, Özkur A, Parlak E. Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal. 2009;15:57–59.
MLA	Mete, Ahmet et al. “Camurati-Engelmann Disease: A Late and Rare Sporadic Case With Vertebral and Pelvic Involvement”. Gaziantep Medical Journal, vol. 15, no. 1, 2009, pp. 57-59.
Vancouver	Mete A, Andıç Ç, Özkur A, Parlak E. Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal. 2009;15(1):57-9.