Hereditary Multiple Exostoses Research

hereditary multiple exostoses This microscopic image shows the exostosis formation along the growth plate of the cranial base synchondrosis.

Hereditary multiple exostoses (HME) is a pediatric skeletal disease characterized by benign tumors called exostoses that form next to the growth areas of the skeleton in children and young adults.

The tumors can cause a number of health problems including growth retardation, skeletal deformities, chronic pain and early onset osteoarthritis. Over time, some exostoses can become malignant and life-threatening.

Our researchers have created experimental models of the disease, are studying the mechanisms by which the exostoses form and grow, and are devising drug- and gene-based therapies to prevent exostosis formation. 

Once available, these therapies could be used in combination with surgical removal of preexisting exostoses to provide definitive and effective treatments of this potentially severe disease.

This research is supported by a five-year grant from the National Institutes of Health, and is part of national and international cooperative research efforts with scientists and clinicians in California, Texas and Italy.

Primary investigators on this study: Maurizio Pacifici, PhD; Eiki Koyama, DDS, PhD, and Motomi Enomoto-Iwamoto, DDS, PhD  


Reviewed by: Maurizio Pacifici, PhD

Next Steps
Appointments, Referrals and Video Visits
Teenage girls on crutches

Why Choose Us

Children's Hospital's Division of Orthopaedics is one of the largest and most active pediatric orthopaedic centers in the world.

mother hugging son

Would you like a second surgical opinion from a CHOP expert?

Our referral nurse navigator can give your family timely access to world-renowned pediatric orthopaedic surgeons in every specialty.