A 61-year-old Japanese man underwent right total hip arthroplasty for hereditary multiple exostosis. At first presentation, he had suffered from coxalgia for a long time. On radiographic images, there was a gigantic femoral head, increased shaft angle, and large diameter of the femoral neck. He had also developed coxarthrosis and severe pain of the hip joint. The transformation of the proximal ...

Exostosis of the rib with neural foraminal extension as a cause of spinal cord compression and scoliosis has to the best of our knowledge not been reported. We describe a young male with hereditary multiple exostosis who presented with a spastic gait, lower limb weakness and a deformity of the upper back. Radiographic imaging revealed a lesion arising from the left second rib which was encroach...

A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understandin...

Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p (EXT3) have been reported, and recently the EXT1 gene was identified by positional cloning. To isolate the EXT2 g...

Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltransferases involved in biosynthesis of heparan sulphate proteoglycans. Here we ...

INTRODUCTION Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. PATIENT CONCERNS & DIAGNOSES We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. ...

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) exces...

We describe the first case of the coexistence of the hereditary connective tissue disorder multiple exostoses (HME) and an acquired connective tissue disorder manifest by the overlap of dermatomyositis (DM), scleroderma (PSS), high titre speckled pattern antinuclear antibodies, and increased antibodies to double stranded deoxyribonucleic acid (DNA). Furthermore this patient developed chondrosar...