Abstract
Hereditary multiple exostosis is a rare condition in which numerous benign osteochondromas form throughout the body, typically in areas of high bone turnover such as the metaphyseal plates of long bones. While many of these lesions remain clinically asymptomatic, other growth locations can lead to excruciating pain, limit a joint's range of motion, and compromise neurovascular structures. These patients undergo multiple surgeries throughout their lifetime in order to remove symptomatic osteochondromas. Due to deformities and changes in bone structure, these patients also suffer from significant arthritis which may also require surgery. It is important that a skilled orthopedic surgeon follow these patients in order to help them make informed decisions and limit the number of surgeries within their lifetime. The purpose of this case report is to discuss one instance in which a patient's significant arthritis was operatively managed in the setting of hereditary multiple exostosis.
Highlights
Hereditary multiple exostosis (HME) is a rare inherited genetic condition characterized by the presence of multiple benign osteochondromas that affect roughly 1 in 50,000 people and does not appear to have a sexual predominance [1, 2]
This patient currently has a significantly large posteriorly projecting osteochondroma on his left proximal tibia that would alarm most physicians given the significant neurovascular structures within the same anatomic area. Given this patient’s extensive past surgical history and continued management, it was decided not to remove this osteochondroma until it becomes symptomatic. This case highlighted the importance of close monitoring of patients with HME and how changes in bone structure can lead to early onset arthritis requiring intervention
This case served to reinforce the conservative approach of removing osteochondromas only if medically necessary while maximizing the quality of life and minimizing the pain of associated arthritis seen in patients suffering from HME
Summary
Hereditary multiple exostosis (HME) is a rare inherited genetic condition characterized by the presence of multiple benign osteochondromas (exostoses) that affect roughly 1 in 50,000 people and does not appear to have a sexual predominance [1, 2]. The heterogeneity of EXT1 and EXT2 follow Knudson’s two-hit model for tumor suppressor genes as multiple osteochondromas arise via a second-hit mutation This has been shown in 63% of analyzed osteochondromas in which the detection of the second hit was demonstrated through the ratio of HS-positive (normal) versus HS-negative (mutated) cells in the cartilaginous cap of osteochondromas. While early onset osteoarthritis is common, the most feared complication of HME is transformation of a benign osteochondroma into a malignant chondrosarcoma at a rate of 2-5% of patients [10] Regardless of their underlying hereditary diagnosis, these patients still experience the same joint degeneration as any other aging individual. This case presentation seeks to discuss the intricate role of orthopedic surgeons in limiting the number of procedures patients with HME undergo while still managing the chronic arthritis that is prevalent within the population
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