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The Journal of Bone & Joint Surgery British Volume
Vol. 82-B, Issue 2 | Pages 261 - 266
1 Mar 2000
Kivioja A Ervasti H Kinnunen J Kaitila I Wolf M Böhling T

Multiple hereditary exostoses is an autosomal dominant skeletal disorder in which there are numerous cartilage-capped excrescences in areas of actively growing bone. The condition is genetically heterogeneous, and at least three genes, ext1, ext2 and ext3 are involved. The reported risk for malignant transformation to chondrosarcoma has been from 0.6% to 2.8%. We have reviewed six generations of a family with 114 living adult members, 46 of them with multiple exostoses. Four have had operations for chondrosarcoma, giving the risk for malignant transformation as 8.3% in this family. Clinical and radiological examination revealed two additional patients with a suspicion of malignancy, but in whom the histological findings were benign. Reported elsewhere in detail, genetic linkage analysis mapped the causative gene to chromosome 11 and molecular studies revealed a guanine-to-thymine transversion in the ext2 gene. Patients with multiple hereditary exostoses carry a relatively high risk of malignant transformation. They should be informed of this possibility and regularly reviewed.


The Journal of Bone & Joint Surgery British Volume
Vol. 80-B, Issue 3 | Pages 513 - 515
1 May 1998
Alanen V Taimela S Kinnunen J Koskinen SK Karaharju E

We used MRI to study a prospective series of 95 patients with inversion injuries of the ankle and no fracture on plain radiographs. We found an incidence of bone bruises of 27%, but these made no difference to the time of return to work, limitation of walking or physical activity, or the clinical outcome scores at three months.

We conclude that bone bruises have very little clinical significance after inversion injuries of the ankle.