학술논문

Melorheostosis: A rare disease of the bone.
Document Type
Article
Source
International Journal of Rheumatic Diseases. Jan2024, Vol. 27 Issue 1, p1-2. 2p.
Subject
*BONE diseases
*RARE diseases
*ACUTE phase proteins
Language
ISSN
1756-1841
Abstract
Melorheostosis, also known as Leri-Joanny disease, is a rare skeletal dysplasia characterized by areas of bone sclerosis that resemble dripping candle wax. It typically manifests in infancy or adolescence and can lead to joint contractures and deformities. The condition is caused by somatic mutations in certain genes. Symptoms include localized pain, stiffness, limited range of motion, and limb swelling. Treatment focuses on pain control, but more severe cases may require surgery and bisphosphonates. This case study highlights the significant changes in bone and soft tissue that can be observed on radiographs. [Extracted from the article]