Abstract

Camurati-Engelmann disease is an exceedingly rare genetic disorder characterized by distinct radiological features that differentiate it from other osteo-dysplastic diseases. A 52-year-old woman presented with a 20-year history of right hip pain with recent exacerbation over 18 months. Diagnostic evaluation included bone scintigraphy, radiography, and blood tests. Bone scintigraphy revealed symmetrically increased uptake throughout the diaphysis of long bones and skull, while radiography showed cortical thickening and coarse trabeculation with bilateral enlargement of multiple bones. These findings indicated diffuse diaphyseal sclerosis, consistent with Camurati–Engelmann disease. She was managed with analgesics, anti-inflammatory agents, and intermittent intralesional steroid injections for over 7 years, during which no additional radiographic changes were noted. Therefore, we aim to report this case and conduct a literature review.

Key words: Camurati–Engelmann disease, progressive diaphyseal dysplasia, bone scintigraphy.