Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide acceptors. EXT1 and EXT2 encode the copolymerase, whereas the roles of the other EXT family members (...

BACKGROUND Hereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME cases. However, the pathological significance of the majority of these mutations is often unclear. METHODS In a Chinese family with HME, EXT...

Abstract Hereditary multiple exostoses (HME), also known as familiar osteochondromatosis or diaphyseal aclasis, are an autosomal dominant inherited genetic pathology that is characterized by the presence of benign osteochondromas. Knee deformity common in patients with HME, nearly a third developing genu valgus. Total knee arthroplasty (TKA) has been used to correct valgus deformities advanced ...

TOPIC: Pediatrics TYPE: Fellow Case Reports INTRODUCTION: Hereditary multiple exostoses (HME) is a syndrome characterized by presence of two or more osteochondromas (exostoses) in the appendicular axial skeleton. Here, we present case an adolescent patient presenting with chest pain as only symptom intrathoracic exostosis leading to diagnosis HME. CASE PRESENTATION: A previously healthy 15-year...

Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder with wide variation in clinical phenotype and is caused by heterogeneous germline mutations in two of the Ext genes, EXT-1 and EXT-2, which encode ubiquitously expressed glycosyltransferases involved in the polymerization of heparan sulfate (HS) chains. To examine whether the Ext mutation could affect HS structures a...

The aim of this paper is to show that osteochondromas of the cervical vertebrae can cause myelopathy and neck pain.The reported etiology, diagnosis, treatment and differential diagnosis were reviewed. Osteochondromas may present as a solitary lesion with no genetic component or as multiple lesions as a part of a genetic disorder known as hereditary multiple exostosis. Osteochondromas of the spi...