Clinical spectrum of pediatric-onset Erdheim-Chester disease: insights from a single-center case series

Pediatric-onset Erdheim-Chester disease (PECD) is considerably rarer than the adult-onset Erdheim-Chester disease (AECD). This study aimed to characterize the clinical, laboratory, imaging, and outcome features of PECD and to compare similarities and differences with adult-onset cases treated at the same center.

We performed a comparative analysis of PECD and AECD patients treated at the same center over the same period, examining differences in clinical presentation, laboratory and imaging findings, treatment responses, and outcomes.

Five pediatric and sixty-seven adult patients were included. Central nervous system and hypothalamic or pituitary involvement were observed in over 50% of children. PECD patients demonstrated distinct organ involvement patterns, including lower rates of bone involvement (60.0% vs. 97.0%; P = 0.022) and cardiac or large-vessel involvement (0% vs. 65.7%; P = 0.007) compared with AECD patients. Analysis of skeletal manifestations revealed significantly less appendicular skeleton involvement in children [1/3 (33.3%) vs. 64/65 (98.5%); P = 0.004]. Osteosclerosis was the predominant radiographic pattern in both groups (66.7% in children vs. 83.9% in adults; P = 0.505), while osteolytic lesions were present in roughly one-third of patients in each cohort. Inflammatory markers were significantly lower in the pediatric group (P < 0.05). PECD patients exhibited trends toward higher progression-free survival (80.0% vs. 35.0%; P = 0.196) and overall survival (100% vs. 80.5%; P = 0.382) compared with adults; however, these findings should be interpreted cautiously due to the extremely small pediatric sample size.

PECD and AECD differ in clinical manifestations and the intensity of systemic inflammation. Pediatric patients appear to have more favorable survival outcomes. These findings suggest potential age-related differences in disease presentation and inflammatory burden. Nevertheless, validation in larger multicenter cohorts is required, underscoring the necessity for large-scale, multicenter collaborative investigations to inform the development of pediatric-specific management strategies.