Department of Pediatric Rheumatology Reports Findings in Pediatric Rheumatology (Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient).

A recent study from the Department of Pediatric Rheumatology in Ankara, Turkey, focused on Camurati-Engelmann disease (CED), a rare genetic disorder characterized by abnormal thickening of long bones' diaphysis. The research highlighted the challenges in diagnosing CED due to its rarity and variable clinical presentation, emphasizing the importance of early and accurate diagnosis for managing symptoms and improving patients' quality of life. The study identified a specific mutation in the transforming growth factor beta-1 (TGFB-1) gene as a possible pathogenic variant for CED in a 30-month-old boy who initially presented with gait abnormality. [Extracted from the article]