P-ISSN: 2707-8345, E-ISSN: 2707-8353
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International Journal of Case Reports in Orthopaedics
Printed Journal   |   Refereed Journal   |   Peer Reviewed Journal


2023, Vol. 5, Issue 2, Part B

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


Author(s): Dr. Momanyi Oyagi Alex, Antonio Marcelo G Souza, Dr. Cicero Feitosa and Dr. Emily Bergamasco

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.

DOI: 10.22271/27078345.2023.v5.i2b.174

Pages: 44-52 | Views: 281 | Downloads: 96

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International Journal of Case Reports in Orthopaedics
How to cite this article:
Dr. Momanyi Oyagi Alex, Antonio Marcelo G Souza, Dr. Cicero Feitosa, Dr. Emily Bergamasco. Mafucci syndrome case series of 2 patients and current literature update and advances. Int J Case Rep Orthop 2023;5(2):44-52. DOI: 10.22271/27078345.2023.v5.i2b.174


International Journal of Case Reports in Orthopaedics
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