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Maffucci Syndrome

Maffucci Syndrome Causes

Direct cause is not specifically known but familial pattern and gene inheritance are considered as the cause of present manifestation of the syndrome.

Maffucci Syndrome Definition

Maffucci syndrome, named after Angelo Maffucci, is usually presented by multiple enchondromas associated with multiple cavernous soft tissue hemangiomas.

Maffucci Syndrome Diagnosis

No specific tests are used in detection of the clinical condition because it usually starts during childhood where the skin and bone develops unusually slow over time. (Kuwahara, R. T., & Rasberry, R. (2003). Maffucci syndrome).

Maffucci Syndrome Symptoms and Signs

It has three main types of symptoms, to wit: Venous malformation or hemangioma, Benign cartilage tumor or enchondroma which may appear anywhere in the body; and bone deformities.

Maffucci Syndrome Treatment

No specific medical treatment is needed but those affected with it are advised to have regular check up for physical examination for evaluation of the changes in the skin and bones. In some cases, orthopedic surgeons are needed to evaluate bone changes.

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