Camurati-Engelmann disease: a case report

Camurati-Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant hereditary disorder, characterized by symmetrical progressive sclerosis of long bones cortical diaphysis. Its presentation and progression is extremely variable. A patient of 42 years is followed in Physical Medicine and Rehabilitation (PMR) consultation for 7 years. He presented with pain in anterior thighs and legs, decreased muscle strength and functional disability. The disease was diagnosed 10 years ago based on radiological and histological examination of bone and genetic study. This patient had hypoacusis, exophthalmos and facial asymmetry, broad-based and waddling gait, and quadriceps atrophy. He has been treated with corticosteroids, non steroidal anti-inflammatory drugs (NSAIDs) and proton pump inhibitors (PPIs), and performs rehabilitation program for periods with pain symptomatic relief and mantenance of function.