Melorheostosis is a relatively rare benign sclerosing bone dysplasia, which is also known as Leri-Joanny disease. Recent genetic research proposed the MAP2K1 oncogene mutation, which leads to this rare disease. The pathology usually manifests with severe pain, dysfunction, and deformity in a single limb. The diagnosis can be made through radiographic evaluation with positive dripping candle wax sign. Management of such condition is mainly symptomatic and not curative. Surgical debulking is indicated to regain functional status and alleviate severe pain.
展开▼
