An Overview of Maffucci Syndrome

Maffucci syndrome is a condition that affects the bones, skin, and lymphatic system of the body. The primary characteristic of Maffucci syndrome is the occurrence of multiple benign cartilage tumors, called enchondromas, that occur throughout the bones of the skeleton. In addition to multiple enchondromas, Maffucci syndrome is also characterized by the presence of red or purplish growths on the skin (hemangiomas) and abnormalities of the lymphatic system (lymphangiomas). Maffucci syndrome is very rare. In fact, since the condition was first described in the late 1800s, less than 200 cases have been reported. Ollier disease, a related condition, is seen in approximately one out of every 100,000 people.

Symptoms

The symptoms that occur as a result of Maffucci syndrome can be separated into three components: skeletal abnormalities, skin abnormalities, and lymphatic abnormalities.

Skeletal Abnormalities

The skeletal abnormalities that are found are the result of the formation of multiple enchondromas throughout the skeleton. An enchondroma occurs when cartilage cells grow within or alongside the bone.

These bony abnormalities can cause deformities, limb shortening, and projections from the bone. They occur most commonly within the limbs, especially the hands and the feet. However, enchondromas can also occur in the skull, ribs, and vertebrae.

As a result of the skeletal abnormalities, it is not uncommon for people with Maffucci syndrome to have a short stature, and often there is a degree of muscle weakening. The muscle weakening can be subtle, and may not be noticeable.

Skin Abnormalities

Maffucci syndrome is distinguished from Ollier disease, also a condition causing multiple enchondromas, by the presence of hemangiomas.

A hemangioma is an abnormal tangle of blood vessels that occurs within the skin causing reddish or purplish growths. These hemangiomas can occur throughout the skin of the body.

The hemangioma is often the first sign of Maffucci syndrome that is detected, seen before any of the enchondromas are detected.

Lymphatic Abnormalities

Lastly, lymphatic abnormalities can occur throughout the body. Similar to the hemangiomas, these tangles of lymphatic vessels are called lymphangiomas.

A lymphangioma can lead to the abnormal circulation of lymphatic fluid leading to swelling within the extremities. People who have lymphatic blockages can have edema of the extremities, where fluid causes swelling most often noticed in the feet and ankles.

Pain and Maffucci Syndrome

None of these abnormalities should cause significant pain or discomfort. When pain does occur in people with Maffucci syndrome, there are a few possible reasons, and each of these should be investigated by a healthcare provider.

The most common reasons for the pain to occur are because the enchondroma is either causing pressure against a surrounding tendon, nerve, or other soft tissue structure, or the enchondroma has caused a weakening of the bone leading to susceptibility of fracture. If the bone is weak and significantly, even low energy injuries can result in a problem called a pathologic fracture.

Pain can also be a sign of the development of transformation of the benign enchondroma to potentially cancerous chondrosarcoma.

People with Maffucci syndrome also have an increased risk of other types of cancer, including ovarian cancer and liver cancer. These cancers have different symptoms and require different treatment.

Causes

The cause of Maffucci syndrome is the result of a genetic mutation that occurs during fetal development. Because the genetic mutation occurs early in development, it is passed to many cells throughout the body leading to multiple enchondromas, hemangiomas, and lymphangiomas.

Diagnosis

The diagnosis of Maffucci syndrome is generally made early in life. While the condition may not be noticed at birth, sometime in early childhood the symptoms of Maffucci syndrome become apparent.

Hemangiomas are typically noticed on the skin and have an abnormal discoloration; this is often the first sign of Maffucci syndrome.

Enchondromas can generally be felt, or seen, along the skeleton. These become most noticeable in the hands and the feet, the location where they are also the most common.

The test may be used to evaluate the tumors associated with this condition. These tests may include X-rays, CAT scans, MRIs, and other imaging studies. Often these tests will be repeated to evaluate for growth and the potential malignant transformation of these tumors.

Treatment

There is no way to prevent Maffucci syndrome. Treatment of the disorder is focused on addressing symptoms related to the multiple enchondromas. Often enchondromas in this situation require treatment because they can interfere with skeletal and joint function.

In addition, if an enchondroma becomes large enough, it can weaken the bone leading to the susceptibility of pathologic fractures. If there is a concern that the bone is being significantly weekend, your healthcare provider may recommend removal of the bone growth and stabilization of the bone.

Because of the nature of this specific genetic condition, the likelihood of malignant transformation over the course of someone's lifetime is high, and some researchers have speculated that the likelihood of at least one enchondroma becoming cancerous chondrosarcoma during the course of a lifetime is almost 100% in people with Maffucci syndrome.

A Word From Verywell

Maffucci syndrome is a very rare condition that is characterized by the formation of multiple cartilage tumors within the skeleton, and blood vessel tumors under the skin. This condition occurs as a result of a genetic mutation early in fetal development.

While nothing can be done to prevent the condition, the symptoms can be managed. People with Maffucci syndrome may have a shorter stature and some skeletal limitations but otherwise can live a healthy life. There are increased risks of other types of cancers later in life, though, that will need to be closely monitored.