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J Med Genet 43:1-11 doi:10.1136/jmg.2005.033522
  • Review

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

  1. K Janssens1,
  2. F Vanhoenacker2,
  3. M Bonduelle3,
  4. L Verbruggen4,
  5. L Van Maldergem5,
  6. S Ralston6,
  7. N Guañabens7,
  8. N Migone8,
  9. S Wientroub9,
  10. M T Divizia10,
  11. C Bergmann11,
  12. C Bennett12,
  13. S Simsek13,
  14. S Melançon14,
  15. T Cundy15,
  16. W Van Hul1
  1. 1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
  2. 2Department of Radiology, University Hospital Antwerp
  3. 3Department of Medical Genetics, University Hospital of Brussels, Brussels, Belgium
  4. 4Department of Rheumatology, University Hospital of Brussels
  5. 5Centre of Human Genetics, Institute of Pathology and Genetics, Loverval, Belgium
  6. 6Rheumatic Diseases Unit, University of Edinburgh, Edinburgh, UK
  7. 7Department of Rheumatology, Hospital Clinic, Barcelona, Spain
  8. 8Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy
  9. 9Department of Paediatric Orthopaedics, Tel Aviv University, Tel Aviv, Israel
  10. 10Department of Molecular Genetics, Gaslini Institute, Genova Quarto, Italy
  11. 11Institute of Human Genetics, Aachen University, Aachen, Germany
  12. 12Clinical Genetics, St James’s University Hospital, Leeds, UK
  13. 13Endocrinology/Diabetes Centre, VU Medical Centre, Amsterdam, the Netherlands
  14. 14Procrea, Mount-Royal, Canada
  15. 15Department of Medicine, University of Auckland, Auckland, New Zealand
  1. Correspondence to:
 Prof Dr Wim Van Hul
 Department of Medical Genetics, University of Antwerp, Campus Drie Eiken (T6), Universiteitsplein 1, 2610 Antwerp, Belgium; wim.vanhul{at}ua.ac.be
  • Received 1 April 2005
  • Accepted 30 April 2005
  • Revised 29 April 2005
  • Published Online First 13 May 2005

Abstract

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) β1. Pain in the extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%). The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. The detailed description of such a large set of CED patients will be of value in establishing the correct diagnosis, genetic counselling, and treatment.

Footnotes

  • Conflicts of interest: none declared