Understanding the Pathogenesis
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The exact cause of Maffucci's Syndrome remains elusive, although it is believed to arise from somatic mutations occurring during embryonic development. Specifically, it is associated with mutations in the IDH1 and IDH2 genes, which encode enzymes involved in cellular metabolism. These mutations lead to dysregulation of cell growth and differentiation, resulting in the formation of enchondromas and hemangiomas.
Clinical Manifestations
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Clinically, Maffucci's Syndrome presents with a myriad of symptoms and complications. Enchondromas commonly affect the hands and feet, causing skeletal deformities, limb length discrepancies, and joint stiffness. Hemangiomas, on the other hand, can arise in various soft tissues, including the skin, mucous membranes, and internal organs, leading to pain, swelling, and functional impairment. Additionally, individuals with Maffucci's Syndrome are at increased risk of developing other health problems, such as bone fractures, malignant transformation of enchondromas into chondrosarcomas, and vascular abnormalities like thrombosis and hemorrhage.