Maffucci syndrome is a disorder which affects the skin and skeleton, causing benign cartilage tumors, bone deformities, and dark hemangiomas to grow. Maffucci syndrome is characterized by benign overgrowths of cartilage skeletal deformities, and dark red, irregular shaped patches of skin, resulting from benign growths on the skin consisting of a accumulation of blood vessels (hemangiomas). Maffucci syndrome affects both males and females. Patients are normal at birth and the syndrome manifests during childhood and puberty.
The enchondromas involve the extremities and their distribution is asymmetrical. Disfigurations of the extremities are a consequence. Pathological fractures can occur in affected metaphyses and diaphses of the long bones and are common (26%). The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30%.Superficial and deep venous malformations frequently protrude as soft nodules or tumors usually on the distal extremities, but they can appear anywhere. Maffucci syndrome appears to be sporadically inherited. Maffucci syndrome has three main types of symptoms. Venous malformation may be superficial or deep.
If in the skin they frequently protrude as soft bluish bumps. Benign cartilage tumor may show anywhere in the body, but are most often found on the hands or feet, or long bones of the arms or legs. The enchondroma may reason the bone to weaken and break. Bone deformities may comprise shortened length of the long bones, resulting in imbalanced arm or leg lengths. Bones may also break because they are weak, and when they heal, they may not support well. Treatment is not indicated in asymptomatic patients if there is no evidence of any malignant transformations. Surgical interventions can right or minimize deformities.
