Melorheostosis--an unusual cause of amputation.

Abstract

A 24-year-old female developed, in infancy, progressive right upper and lower limb muscle and soft tissue contractures and had a diagnosis of melorheostosis made on X-ray and pathological specimens. At the age of 11 years she began to have pain in the right hip and lower limb and this later became the dominant feature. She ultimately required amputation through the right hip joint and prosthetic fitting. She now has independent mobility with her prosthesis and has had no recurrence of pain. Her right arm remains flexed, shortened and contracted, but some hand function is retained. A review of the medical literature is discussed.