Hereditary multiple exostoses (HME) is a genetically heterogeneous human disease characterized by the development of bony outgrowths near the ends of long bones. HME results from mutations in EXT1 and EXT2, genes that encode glycosyltransferases that synthesize heparan sulfate chains. To study the relationship of the disease to mutations in these genes, we generated Ext2-null mice by gene targe...

The risk and consequences of an elbow or a wrist contracture are lower during a forearm lengthening than during a lower limb lengthening. This kind of complication can mostly be avoided by an active and intensive regimen of physiotherapy. However, there are some challenges to deal with in treating the disorder multiple exostoses and the radial club hand, including the lack of consensus on the b...

We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. The ap...

It has been reported that patients with hereditary multiple exostoses (called multiple osteochondromatosis by the World Health Organization) are at increased risk for malignant transformation of osteochondromas to secondary chondrosarcomas. A review of the literature found 14 cases showing transformation of osteochondromas into osteosarcomas; however, Ewing sarcoma has never been reported super...

Background: Multiple hereditary exostoses (MHE) is an inherited disorder of bone growth. People who have MHE grow or boney bumps on their bones that vary in size, location and number. Some localizations are rare but potentially serious such as ribs, spine pelvis due to proximity important structures. Objectives: The aim this case report was illustrate the clinical radiographic features some MHE...

We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses. We calculated the severity of disease including stature, number of exostoses, number of surgical procedures that were necessary, deformity and functional parameters an...

An example of cartilaginous exostoses-believed by some to be the first described in detail in the literature-was reported in the Guy’s Hospital Reports of the Lancet of July 23, 1 825. However, it is certain that the condition was known at least half a century before that. In the series of Lectures on the Principles of Surgery which John Hunter delivered in I 786 and 1 787 he described the cond...

Hereditary multiple exostoses (HME) is an inherited autosomal dominant disorder characterised by the presence of multiple exostoses, in fact benign cartilaginous tumors (enchondromata on the long bones). A six-year-old boy was found to have multiple osteochondromas on the legs, arms and ribs. Unusually, one of the osteochondromas on the right arm was huge (5 x 6 cm) and painful. X ray confirmed...