Camurati-Engelmann's disease. A case report.

Area of Science:

• Orthopedics
• Genetics
• Radiology

Background:

• Camurati-Engelmann's syndrome is a rare genetic disorder.
• It is characterized by progressive hyperostosis and sclerosis of the long bones.

Observation:

• A case report of an adult patient with Camurati-Engelmann's syndrome.
• The patient presented with a family history and multiple long bone diaphyses involvements.
• The right tibia and fibula were the most affected sites, causing significant pain.

Findings:

• The syndrome manifests as increased bone density and thickening, particularly in lower limb long bones.
• Surgical intervention involving medullary canal drilling and reaming was performed.
• This minimally invasive technique demonstrated efficacy in treating the condition.

Implications:

• Drilling and reaming offer a less traumatic treatment option for Camurati-Engelmann's syndrome.
• The procedure significantly reduces bedrest duration and accelerates functional recovery.
• This approach highlights potential advancements in managing rare skeletal dysplasias.