What is Hereditary multiple exostoses

Hereditary multiple exostoses (HME), also known as multiple osteochondromas, is a rare genetic disorder characterized by the development of multiple benign bone tumors called osteochondromas. These tumors typically grow near the growth plates of long bones, such as the arms and legs.

HME is inherited in an autosomal dominant manner, meaning that a person only needs to inherit the mutated gene from one parent to develop the condition. However, about 20% of cases arise from spontaneous mutations.

The symptoms of HME can vary widely, but commonly include bone deformities, limb length discrepancies, joint pain, limited range of motion, and nerve compression. The severity of the condition can also vary, with some individuals experiencing only a few tumors while others may have dozens.

Early diagnosis and regular monitoring are crucial to manage potential complications, such as growth disturbances, skeletal deformities, and malignant transformation of the tumors. Treatment options may include surgical removal of symptomatic tumors, physical therapy, and orthopedic interventions to address skeletal abnormalities.

While there is currently no cure for HME, ongoing research aims to better understand the underlying genetic mechanisms and develop targeted therapies to improve the quality of life for individuals affected by this condition.