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Maffucci's Syndrome

Maffucci's syndrome, a rare disorder that affects the skin and bones, can cause significant disturbances in your life. Characterized by benign overgrowths of cartilage in the hands and feet (enchondromas), Maffucci's syndrome causes skeletal deformities, dark red patches, and potentially malignant cell growth.

Although receiving a diagnosis of Maffucci's syndrome can be traumatic, with proper medical attention, the disorder can be managed. If you have been diagnosed with Maffuci's syndrome, enlisting the services of a skilled doctor is your first step in obtaining the treatment you need.

Causes of Maffucci's syndrome

The exact cause of Maffucci's syndrome is not fully understood. The disorder appears to stem from improper bone and skin development in-utero or in early childhood. Genetic factors may also play a role in the development of Maffucci's syndrome. Maffucci's syndrome causes some cartilage to grow irregularly as the bone grows, eventually forming the bone deformities that characterize the syndrome.

Symptoms of Maffucci's syndrome

Maffucci's syndrome can be asymptomatic, but when the disorder causes symptoms, they might include: 

  • Bone abnormalities (i.e. legs that are unequal in length, bones that fracture easily, fractures that do not heal properly). 
  • Red skin patches. 
  • Secondary bone fractures. 
  • Skin and bone malignancies.

Treatment for Maffucci's syndrome

If Maffucci's syndrome does not cause symptoms, treatment may not be necessary. However, ongoing medical evaluation is crucial in order to monitor any changes of the skin and bones. When symptoms are excessive, malignant transformations can occur in the skin and skeletal regions, at this point treatment might be necessary. The goal of treatment is to manage the symptoms and restore the bones and skin as much as possible.

If you are experiencing the symptoms of Maffucci's syndrome, or if you have been diagnosed with the disorder, contact your doctor to obtain the treatment you need. A skilled medical professional can help manage your symptoms and improve your prognosis.