EP251: Vascular anomalies in patients with Maffucci syndrome

Abstract

Maffucci syndrome (MS) is characterized by multiple enchondromas and spindle cell hemangiomas. However, the full spectrum of vascular anomalies present in these patients have not been well defined. Enchondromas are bilateral in most cases and in ∼13% of cases, MS is noticeable in the first year of age. It can cause joint deformities, mobility limitations, scoliosis, bone shortening, leg-length discrepancy, pathological fractures, pain, and loss of function. Surgery is the only treatment currently available.