Hereditary multiple exostoses in a 15-year-old boy: A case report and review of literature

Abstract

Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses of long bones and can lead to considerable psychosocial problems. This paper aims at reporting a case of HME with some peculiar features.

Methods: A case report of a 15- year-old Nigerian male with Hereditary Multiple Exostoses is presented to highlight the clinical, radiological features and management challenges of the condition.

Results: The patient presented with multiple hard, bony and ridge-like growth along the spine, scapula and para-vertebral region which gradually increased in size. These swellings were non-tender, not attached to the overlying skin and immobile, had no differential warmth and appeared to be continuous with the underlying bony structures. A striking feature was exostoses that extended from the lumbar spine towards the left scapula. He also had brachymetatarsia of the first ray of both feet. Skeletal survey confirmed the diagnosis.

Conclusion: Though rare, HME do occur in our environment. The treatment is individualized, with small asymptomatic or minimally symptomatic lesions followed up and only supportive care provided. Larger symptomatic lesions may cause major physical handicap and may be resected.

Keywords: Hereditary, Multiple, Exostoses, Deformity