Maffucci Syndrome

Maffucci Syndrome is a rare disorder where vascular malformations occur in the skin and internal organs and tumors occur in the bone. The skin lesions most commonly resemble blue, soft venous malformations, and also have some characteristics of other benign tumors (growths). The venous malformations can occur anywhere but are most commonly seen on one side of the body, most often on the hands and feet.

The bone tumors are called enchondromas, which are abnormalities of cartilage formation. The tumors are found on the long bones of hands, fingers and feet, and can cause deformity and fractures. There is also a rare chance of the bone lesions becoming cancerous.

Blue Rubber Bleb Nevus Syndrome

Blue Rubber bleb nevus syndrome is another rare disorder of vascular lesions. Children with this syndrome have many blue vascular malformations on the skin and in the gastrointestinal tract. At birth, or in early childhood, a child will have many blue/purple small soft nodules (blebs) on their skin. These nodules are compressible, or become flatter when pressure is applied, but will quickly refill when the pressure is removed. Over time, these nodules will increase in number, as well as size. Due to the vascular malformations in the gastrointestinal tract, bleeding can occur. When this is severe, children with this syndrome can become anemic and may need blood transfusions.

How Is Maffucci Syndrome Treated?

Both of these syndromes require close observation and long-term care. Specialists in plastic surgery, medical imaging, orthopedics, dermatology and general surgery will provide care for the physical needs of the child, while support services from psychologists to social workers will help care for you and your child’s emotional needs. 

Make an Appointment

If you’d like to request an appointment with one of our specialists, call 312.227.8521.

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