Mafucci syndrome case series of 2 patients and current literature update and advances

Abstract

Introduction: Maffucci syndrome is a rare congenital chondrogenic disease characterized by multiple cartilaginous tumors (central enchondromas) associated with multiple cutaneous hemangiomas (spindle cell subtype). The patients have a high incidence of malignant transformation and 100% risk of skeletal/extraskeletal malignancy. Study Design: Case reports of two patients and updated literature review. Objective: The purpose of this study was to perform an updated review and present our experience with two cases of mafucci syndrome, including ongoing treatment strategies and followup concerns. Methods: A detailed description of a cases and an updated literature review. Results: Both patients under review demonstrated classical signs of maffucci: multiple enchondromas with polyostotic dysplasia and quadrimelic hemangiomas. One patient had been on follow-up for 17 years. It was interesting to find both patients had a left limb deformity and hemangioendothelioma predominance. Recent literature proposes proteomic biological analysis and karyotyping for IDH1/2 mutations.Conclusion: Maffucci syndrome cases are aptly rare and patients need close routine follow-up for early detection of skeletal or non-skeletal malignancies.