Camurati-Engelmann disease

Camurati-Engelmann disease (CED) is a bone dysplasia syndrome characterized by hyperostosis of the skull, spine, pelvis and long bones. Consequences are severe pain in the extremities, joint contractures, shaky gait, muscle swelling, and mild discomfort due to the decrease in bone stability.

Since the disease shows a large variability, each case should be considered individually. The course of the disease begins with progressive hyperostosis and sclerosis of the periosteum on the long iliac bones. They usually affect the diaphysis of the bones, beginning at the lower legs. This results in strong bone pain in combination with muscle weakness and gait difficulties. Contractures of the large joints occur often.

As the disease progresses, progressive hyperostosis reaches the mandible and skull base, where it narrows the cranial nerve canals. As a result, facial disorders, blindness and lack of sleep occur. The disease is often associated with diseases that can lead to anemia, blood sedimentation, and leukopenia.

In the vast majority of patients, a mutation in the transforming growth factor gene TGFB1 was manifested at the 19q13.1 locus, which is essential for bone formation. The beta-1 chain of the molecule is defective. The inheritance is autosomal recessive.