Rare Presentation of Pediatric Multiple Enchondromatosis Limited to Single Ray or Single Nerve Distribution in the Hand: A Multicenter Case Series.

ABSTRACT

BACKGROUND: Multiple enchondromas in the pediatric hand is a relatively rare occurrence and the literature regarding its incidence and treatment is sparse. Within this rare subset of patients, we identified a unique cohort in which lesions are confined to multiple bones in a single ray or adjacent rays within a single nerve distribution. We review the clinical and pathologic characteristics and describe the indications for and outcomes of treatment in this unique subset of patients as well as offer conjectures about its occurrence. METHODS: Institutional review board (IRB)-approved retrospective multicenter study between 2010 and 2018 identified subjects with isolated multiple enchondromas and minimum 2-year follow-up. Data analyzed included demographics, lesion quantification and localization, symptoms and/or fracture(s), treatment of lesion(s), complications, recurrence, and presence of malignant transformation. RESULTS: Ten patients were evaluated with average age at presentation of 9 years (range 4 to 16) and mean clinical follow-up of 6 years (range 2.8 to 8.6). Five subjects had multiple ray involvement in a single nerve distribution and 5 had single ray involvement with an average of 4 lesions noted per subject (range 2 to 8). All children in the study had histopathologic-proven enchondromas and underwent operative curettage±bone grafting. Indications for surgical intervention included persistent pain, multiple prior pathologic fractures, impending fracture and deformity. During the study period three subjects experienced pathologic fracture treated successfully with immobilization. Recurrence was noted in 40% at an average of 105 weeks postoperatively (range 24 to 260) and appears higher than that reported in the literature. No case of malignant transformation was observed during the study period. CONCLUSIONS: A rare subset of pediatric patients with multiple enchondromas of the hand is described with lesions limited to a single ray or single nerve distribution. Further awareness of this unique subset of patients may increase our understanding of the disease and improve patient outcomes. LEVEL OF EVIDENCE Level IV-therapeutic (case series).