This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Ribbing disease is a rare disease that causes bony growths to develop on the long bones. These bony growths most commonly affect the long bones of the lower legs, such as the thigh bone (femur) and shin bone (tibia) but can also affect the long bones of the arms. Signs and symptoms of the disease may include pain and muscle weakness in the areas where the bone growths are occurring. The bone growths typically occur only on one side of the body or in different bones on both sides of the body. These symptoms most commonly begin during adulthood, typically when a person is around 30-years-old. Ribbing disease has similar signs and symptoms to another disease called Camurati-Engelmann disease (CED). However, symptoms of CED typically begin at a younger age and may affect more bones on both sides of the body than Ribbing disease does.
The exact cause of Ribbing disease is currently unknown. Some researchers think that Ribbing disease is caused by genetic changes (pathogenic variants or mutations) in the TGFB1 gene, and that the disease is inherited in an autosomal recessive manner. Diagnosis of Ribbing disease is based on observing signs and symptoms of the disease such as bone pain, especially in the bones of the legs. The diagnosis can be confirmed with procedures that help visualize the bones in the body including CT scan, MRI, and bone scan. Treatment options for Ribbing disease may include medications such as non-steroidal anti-inflammatory drugs (NSAIDS), bisphosphonate, and prednisone. If medications do not help resolve the symptoms of Ribbing disease, a surgical procedure called intramedullary reaming may be recommended.
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