Clinical Features and Prognosis of Pediatric-Onset Erdheim-Chester Disease Compared with an Adult-Onset Cohort from the Same Center

Purpose Pediatric-onset Erdheim-Chester disease (PECD) are more infrequently reported than adult population (AECD). This study aimed to explored the distinctive characteristics of PECD. Methods This study compared the differences in clinical manifestations, laboratory/imaging characteristics, treatment responses, and outcomes between PECD and AECD from the same center and period. Results A total of 5 children with PECD and sixty-seven patients with AECD were ultimately included. Central nervous system and hypothalamic/pituitary involvement was frequently encountered in children (more than 50%). Pediatric-onset patients exhibited distinct patterns of organ involvement, with lower rates of bone involvement (60.0% vs. 97.0%; P  = 0.022) and cardiac/large vessel involvement (0% vs. 65.7%; P  = 0.007), compared with the AECD cohort. Analysis of osseous manifestations revealed significantly lower appendicular skeletal involvement in children [1/3 (33.3%) vs. 64/65 (98.5%); P  = 0.004]. Osteosclerosis predominated in both children (2/3, 66.7%) and adults (52/62, 83.9%; P  = 0.505), while approximately one-third exhibited osteolytic lesions in both groups. Comparative analysis revealed significantly lower levels of inflammatory markers ( P <  0.05) in the PECD group. Compared with the AECD cohort, patients with PECD showed a trend toward higher progression-free survival (80.0% vs. 35.0%, P  = 0.196) and overall survival (100% vs. 80.5%, P  = 0.382) rates. Conclusions PECD and AECD exhibit distinct differences in clinical manifestations and inflammatory response intensity. Pediatric patients appear to have better survival outcomes compared with adult patients. The consensus recommendations established for AECD may not be fully applicable to the pediatric population.