In simple words: Progressive diaphyseal dysplasia is a rare bone disease that causes the shafts of long bones to thicken and harden over time. This can lead to bone pain, muscle weakness, and gait abnormalities.

Progressive diaphyseal dysplasia, also known as Camurati-Engelmann syndrome, is a rare genetic disorder characterized by progressive thickening and sclerosis (hardening) of the long bones, particularly the diaphyses (shafts).

Example 1: A 10-year-old boy presents with progressive leg pain and a waddling gait. Radiographic imaging reveals cortical thickening of the diaphyses of the femur and tibia, consistent with progressive diaphyseal dysplasia., A 35-year-old female experiences chronic bone pain and fatigue. After extensive evaluation, including genetic testing, she receives a diagnosis of Camurati-Engelmann disease, a form of progressive diaphyseal dysplasia., An infant exhibits delayed motor milestones and unusual bone development. Genetic analysis confirms a diagnosis of progressive diaphyseal dysplasia, prompting early intervention and management strategies.

Clinical findings, radiographic evidence (e.g., bone thickening, sclerosis), and potentially, genetic testing results.