Maffucci syndrome is a very rare skin and bone disorder characterized by multiple abnormal growths on an individual's boney tissues. These abnormal growths can cause numerous complications and are known to develop into malignant or cancerous masses. This disorder is caused by mutations in an individual's genes that occur spontaneously during fetal development or shortly following their birth. These mutations occur in the IDH1 and IDH2 genes and are not associated with a familial inheritance sequence. Diagnosis of Maffucci syndrome is made through a physical exam and assessment of several radiologic tests. Surgical excision of lesions can distinguish enchondromas from chondrosarcomas. For individuals who do not exhibit any symptoms, treatment is not needed. Medication, surgical procedures, diligent monitoring, and physical therapy are all methods used to treat individuals who have Maffucci syndrome.
Different symptoms and their effects dictate how an affected individual is treated.
The first symptom that typically manifests in Maffucci syndrome patients is the development of one or more enchondromas in the individual's cartilage. An enchondroma is a form of noncancerous or benign bone tumor that initiates in the cartilage parts of the skeletal system. Most bones start off as cartilage and form into bones during an individual's fetal development or shortly after they are born. Enchondromas most often affect the type of cartilage present in the inside of an individual's bones. The most common places for enchondromas to develop are the tiny long bones of the feet and hands, the femur, humerus, and tibia. These benign growths cause the affected bones to become weak and distorted. Bone distortions that occur from enchondromas include bowing of the arms and legs, asymmetric growth, and bulging of the bones. In about half of all patients diagnosed with Maffucci syndrome, enchondromas only affect one side of the body. As the number of enchondromas in a patient's body increases, so does their likelihood of developing a malignant or cancerous tumor called chondrosarcoma.
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