Pharmacopathylife

  Maffucci's Syndrome is a rare and enigmatic disorder that presents a unique challenge to medical professionals worldwide. Named after the Italian pathologist Angelo Maffucci, who first described it in 1881, this syndrome is characterized by the presence of multiple enchondromas—benign cartilage tumors—and hemangiomas—abnormal clusters of blood vessels—within the bones and soft tissues of the body. While it affects both genders equally and can manifest at any age, it typically becomes apparent during childhood or adolescence. Understanding the Pathogenesis 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 Man