Arch Hand Microsurg.  2024 Sep;29(3):173-178. 10.12790/ahm.24.0019.

An osteolytic lesion of the proximal ulna in a patient with Maffucci syndrome: a case report

Affiliations
  • 1Department of Orthopaedic Surgery, Dong-A University Hospital, Busan, Korea
  • 2Department of Pathology, Dong-A University Hospital, Busan, Korea

Abstract

Maffucci syndrome is a rare, congenital, and nonhereditary syndrome characterized by the occurrence of multiple enchondromas and hemangiomas. According to previous studies, patients diagnosed with Maffucci syndrome have a higher risk of developing malignant tumors, such as ovarian cancer, pancreatic cancer, breast cancer, and central nervous system cancer, in addition to malignant transformations of enchondromas. The authors report a case of a 37-year-old male patient with Maffucci syndrome who presented with multiple enchondromas and hemangiomas. This patient’s presentation and management are discussed, along with a review of the literature. Maffucci syndrome should be expected when encountering a patient with multiple enchondromas and suspected hemangiomas in the limbs. Even if benign lesions such as enchondromas or hemangiomas are diagnosed, regular follow-up is required to monitor for malignant transformations and the development of malignant tumors in other organs.

Keyword

Maffucci syndrome; Enchondroma; Hemangioma
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