Hereditary multiple exostosis (HME) is an autosomal inherited skeletal disease whose etiology is not fully understood. To further understand the genetic spectrum of the disease, we analyzed a five-generation Chinese family with HME that have observable inheritance. Exome sequencing was performed on three HME individuals and three unaffected individuals from the family. A downstream study confir...

Osteochondroma, also known as osteocartilaginous exostosis or just exostosis, was initially described in 1843 by Reid [1]; it is a common benign tumor of the bone accounting for 10% to 15% of all bone tumors and 20% to 50% of all benign bone tumors [2]. These lesions are the most common benign tumors of the appendicular skeleton, located in the metaphyseal region of long bones, particularly the...

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by two or more benign growing, cartilage capped tumors of long bones called osteochondromas. If abnormal growth and clinical symptoms of osteochondromas newly appear in adults, malignant transformation of the usually benign growing tumors should be suspected and diagnostic testing should be initiated. Against th...

Hereditary multiple exostosis is an intriguing genetic condition with a clinical impact in the field of orthopaedics, paediatrics and oncology. In this review we highlight the current knowledge about this condition from a clinical and scientific point of view. This gives us more insight into the molecular mechanisms and current models on which therapeutic agents are based. It allows for a multi...

Multiple exostosis is associated with the autosomal dominant disorder and hereditary multiple exostoses (HMEs), are rarely growing around the ribs and the formation of a large lump into the thoracic cavity. It's generally agreed that when there are no symptoms present, a HME patient could either avoid any treatment or postpone the operation until adolescence. We present a 5-year-old boy with 4 ...

Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In Indonesia, HME with nerve cases have rarely reported. Presentation Case: An eleven-year-old female complaining left knee joint pain and progressive masses in lower leg since 6 years ago. Th...

The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...

Multiple hereditary exostosis, EXT genes, and skeletal development.

Osteochondromas are the rare benign and malignant tumour of the growing bone, usually affecting the young adults. Solitary osteocartilaginous exostosis is more common than the hereditary multiple exostosis (HME). The first 3 decades of life has maximum chances of getting affected with osteochondroma and hardly occurs in craniofacial bones because of the fact that these bones are not formed by e...

We report on a 13-year-old boy who presented with multiple hereditary exostosis and had development of back pain, associated with neurological deficits, and was found to have exostoses in the spinal canal. Spine radiograph showed a cauliflower-like abnormality of multiple exostoses of the posterior arch (pedicle) of the thoracic vertebrae (T3-5). Reformatted CT scanning revealed the simultaneou...