Maffucci Syndrome
It is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas.⠀ ⠀ ✅There is a tendency for malignant transformation of enchondromas into chondrosarcomas or of hemangiomas into vascular sarcomas.⠀ ⠀ ✅Patients with Maffucci syndrome also are susceptible to the development of other malignant lesions such as glioma.⠀ ⠀ ⏩Somatic mutations in the isocitrate dehydrogenase 1 (IDH1) or IDH2 genes are described in both Maffucci syndrome and Ollier disease and that is why enchondromas and chondrosarcomas, as well as in several neoplasms, including glioma, glioblastoma, acute myeloid leukemia, and intrahepatic cholangiocarcinomas are common in this syndrome.⠀ ⠀ ✅The vascular lesions in Maffucci syndrome appear as reddish-blue, soft, compressible, occasionally tender, subcutaneous nodules.⠀ ⠀ ✅Involvement of the gastrointestinal tract can result in occult microcytic anemia from hemorrhage, whereas lesions in the upper airways can rupture and cause rapid respiratory compromise.⠀ ⠀ ✅Symptoms can range from local soft tissue swelling causing cosmetically unsightly extremities to painful lesions that are at risk for hemorrhage if traumatized.⠀ ⠀ ⏩Enchondromata seen in Maffucci syndrome can cause pathologic fractures that lead to bony deformation, shortening, and difficulty in manipulating objects or ambulating.⠀ ⠀ ⏩Serial radiographs looking for cortical destruction, endosteal cortical erosion, and zones of lucency within a previously mineralized area should be performed to monitor for the development of chondrosarcomas⠀ ⠀ ✅The characteristic features of Maffucci syndrome seen on hand x-ray are the multiple acral enchondromata that progress over time.⠀ ⠀ ⏩Maffucci syndrome had long been a clinical diagnosis.⠀ ⠀ ⏩Treatment is symptomatic along with various surgeries for developed tumors. By: https://www.instagram.com/p/CV2qtsLBnHV/?utm_medium=copy_link
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