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Hereditary Multiple Exostoses

Hereditary Multiple Exostoses (HME) is a medical condition whereby multiple exostoses (bony spurs or lumps, also known as osteochondromas) develop on the bones of a child. Generally, when a person with HME reaches maturity, and their bones stop growing, the exostoses also stop growing.

It is estimated to occur in 1 person in 50,000. A person with HME is more likely to develop a form of bone cancer called chrondosarcoma as an adult.

It is an autosomal dominant disorder.

If necessary, the exostoses can be removed by surgery.

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Retardation of stature in hereditary multiple exostoses - a natural history
From Journal of Bone and Joint Surgery, 1/1/03 by A, Baker

Introduction: Diminished adult stature is a key feature of Hereditary Multiple Exostoses (HME). Current debate on the pathogenesis of skeletal abnormalities in HME centres on whether there are 'field-change' effects which might retard bone-growth, or whether exostoses themselves distort normal bone development locally. The latter theory allows for surgical excision of exostoses to improve prospects for local normal bone development whereas the former does not. No study has previously investigated patterns of height disturbance in HME. Such an analysis in a cohort of children and adults with HME may provide evidence for or against either pathogenesis theory, and throw light on the chance of success of lower limb surgery in improving final height.

Methods: Between 1996 and 2000, 172 individuals from 78 families with HME had clinical measurement of standing height and leg length (anterior superior iliac spine to medial malleolus. 71 were skeletally immature (1st and 2nd decades). Surgical intervention in anatomical areas affecting stature (lower limb, pelvis and spine) were recorded. Centile heights were calculated from Tanner Whitehouse charts.

Results: 25/172 (15%) exhibited severe short stature (1% of centile height was seen in 35/167 (21%), encompassing all age groups without significant difference.

Discussion: The pattern of height retardation observed in this study is consistent with a progressive linear disturbance which is not apparent in early childhood, but progresses significantly in the second decade. Overt spinal exostoses are rare; and the spine's contribution to growth retardation in HME appears be far less than that due to the lower limb. Although the genetics of HME allow for a field-change effect as well as a local osteochondroma effect, these results reinforce the possibility that solutions to severe short stature in HME may be achieved through lower limb surgery.

Baker, A., Porter DE1, Fraser M, Simpson AHRW

Department of Orthopaedic Surgery, University of Edinburgh, New Royal Infirmary of Edinburgh, Nuffield Department of Orthopaedic Surgery, Oxford,

Copyright British Editorial Society of Bone & Joint Surgery 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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