How is Maffucci syndrome diagnosed?

The diagnosis of Maffucci syndrome is made by a detailed history, thorough physical examination and radiologic assessment. Surgical removal and microscopic study of the skeletal lesions confirm the presence of enchondroma and distinguish the tumor from chondrosarcoma.

Does Maffucci syndrome affect physical stature?

As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.

What causes Ollier’s disease?

In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively.

Can Enchondroma go away?

Once enchondromas are removed, most will not return. If a tumor has caused your bone to fracture, your doctor will usually allow the fracture to heal before treating the tumor.

What is the treatment for Enchondroma?

Typically, no treatment is necessary for an enchondroma. Most abnormalities detected within the bone can be rechecked with normal x-rays over a period of time.

How is Maffucci syndrome different from Ollier disease?

Maffucci syndrome is distinguished from a similar disorder that involves enchondromas ( Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).

What are the signs and symptoms of Maffucci syndrome?

Signs and symptoms. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in 3 disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome.

What are the signs and symptoms of Ollier disease?

Signs & Symptoms. Ollier disease also hampers proper development of bone (ossification). Fractures are a common occurrence in people affected by this disorder and usually heal well. On rare occasions, the development of some forms of malignant bone growths have been associated with Ollier disease.

When do enchondromas develop in Maffucci syndrome?

Enchondromas arise in bones, most frequently in the hands and feet, and less often in the legs and long bones of the arm. Maffucci syndrome is not recognizable at birth. Lesions usually develop early in childhood, most often between 1-5 years of age.