Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses.
Hereditary multiple exostoses (HME) is traditionally described as a skeletal dysplasia. However, the discovery that the EXT family of tumour suppressor genes are responsible for HME suggests that it is more appropriate to classify HME as a familial neoplastic trait. In a clinical and radiographic analysis of paired bone length and exostoses number and dimensions in a HME cohort, the local presence of osteochondromas was consistently associated with growth disturbance. In particular, an inverse correlation between osteochondroma size and relative bone length (p<0.01) was found. These data suggest that the growth retardation in HME may result from the local effects of enlarging osteochondromas rather than a skeletal dysplasia effect. This study provides the first clinical rationale for ablation of rapidly enlarging exostoses to reduce growth disturbance.
Porter
D E
DE
Nuffield Department of Orthopaedic Centre, University of Oxford, Nuffield Orthopaedic Centre, United Kingdom.
Emerton
M E
ME
Villanueva-Lopez
F
F
Simpson
A H
AH
D000293:Adolescent; D000328:Adult; D001859:Bone Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D016147:Genes, Tumor Suppressor / Q000502:physiology; D006130:Growth Disorders / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D015831:Osteochondroma / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D011379:Prognosis; D011859:Radiography; D018570:Risk Assessment