[Camurati-Engelmann disease: a case report].

Area of Science:

• Medical Genetics
• Orthopedics
• Rare Diseases

Background:

• Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare autosomal dominant hereditary disorder.
• CED is characterized by symmetrical progressive sclerosis of the long bones' cortical diaphysis, with highly variable presentation and progression.

Observation:

• A 42-year-old male patient with a 10-year diagnosis of CED was followed for 7 years in Physical Medicine and Rehabilitation (PMR).
• The patient presented with anterior thigh and leg pain, reduced muscle strength, functional disability, hypoacusis, exophthalmos, facial asymmetry, waddling gait, and quadriceps atrophy.

Findings:

• The patient's CED diagnosis was confirmed via radiological, histological, and genetic studies.
• Treatment included corticosteroids, NSAIDs, PPIs, and a rehabilitation program, providing symptomatic pain relief and functional maintenance.

Implications:

• This case highlights the variable clinical manifestations and long-term management challenges of Camurati-Engelmann disease.
• Multidisciplinary care involving PMR is crucial for managing pain and maintaining function in CED patients.