Severe Symptoms Of Maffucci Syndrome

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.