Maffucci syndrome is a very rare condition that affects a person’s skin and bones. Characteristic features of the condition include benign growths of cartilage and small blood vessels as well as other bone problems.

Doctors refer to the growths of cartilage that occur in Maffucci syndrome as enchondromas. These growths can lead to bone problems and shortening of limbs. Enchondromas that result from Maffucci syndrome are initially benign, or noncancerous. However, they can become cancerous over time.

Maffucci syndrome is distinguishable from similar conditions by the presence of hemangiomas. These are vascular growths on a person’s skin that result from a benign proliferation of small blood vessels that appear red or purplish.

In this article, we will discuss Maffucci syndrome, including its causes, symptoms, and treatments.

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Maffucci syndrome is an extremely rare condition that mainly affects a person’s skin and bones. Since Dr. Angelo Maffucci discovered the condition in 1881, doctors have identified only 200 cases of Maffucci syndrome.

Signs of Maffucci syndrome may be apparent in newborn babies. Typically, symptoms develop when a child is between 1 and 5 years old. Maffucci syndrome occurs equally in people of all ethnic backgrounds and genders.

Maffucci syndrome causes a person to develop benign enchondromas and hemangiomas. Enchondromas generally develop in a person’s feet and hands. Less frequently, they can develop in the:

  • legs
  • long bones of the arm
  • skull
  • ribs
  • vertebrae

Enchondromas usually develop at the end of bones and stop developing once a person has finished growing. They develop on only one side of a person’s body in 40% of cases. The enchondromas that occur in Maffucci syndrome can cause bone problems that lead to a person having a short stature or underdeveloped muscles.

Hemangiomas that develop as a result of Maffucci syndrome tend to occur when a child is 4–5 years old. They can be bluish, red, or purplish growths. Over time, they may become hard, warty, or knotty and can contain calcium stones. Hemangiomas generally develop on a person’s hands, although they can also develop on internal structures such as the:

  • meninges, which are membranes that cover the brain and spinal cord
  • tongue
  • oral mucosa, which is the lining of the mouth

Enchondromas that occur in Maffucci syndrome can become cancerous. This can result in a person developing bone cancers called chondrosarcomas. Maffucci syndrome can also increase a person’s risk of developing other types of cancer, such as ovarian and liver cancer. According to a review from 2020, around 50% of people with Maffucci syndrome also develop a form of cancer.

Ollier disease is another condition that can cause enchondromas to develop in a person’s bones. Some gene variations that occur in Maffucci syndrome are also present in Ollier disease.

Ollier disease has many similar qualities to Maffucci syndrome. Enchondromas due to Ollier disease can develop in the same areas as those due to Maffucci syndrome. Additionally, signs of Ollier disease may appear before a child is 5 years old. It can increase a person’s risk of developing chondrosarcomas and ovarian or liver cancer.

However, Ollier disease does not cause hemangiomas. Ollier disease is also more common than Maffucci syndrome, occurring in about 1 in 100,000 people.

Maffucci syndrome results from genetic variations in the genes IDH1 and IDH2.

These genes are responsible for producing enzymes necessary to convert the compound isocitrate into 2-ketoglutarate. The cells in the body use 2-ketoglutarate for growth and healing from injuries. When an alteration occurs in these genes, they produce enzymes that do not function correctly.

The gene alteration that causes Maffucci syndrome is not heritable, it is somatic. This means a change in DNA occurs after conception. Scientists believe that the variation that causes Maffucci syndrome occurs during fetal development.

Although researchers know these gene alterations are present in individuals with Maffucci syndrome, they do not fully understand the relationship between these variations and the signs and symptoms of the syndrome. Some evidence suggests that variations in other genes may also cause some cases of Maffucci syndrome.

Symptoms of Maffucci syndrome can vary in severity. Some people may experience mild symptoms, while others may develop severe complications. Generally, the first sign of Maffucci syndrome is an enchondroma in a long bone. Enchondromas due to Maffucci syndrome can cause bone problems and weakness, leading to:

  • fractures
  • bulging of the bones
  • bowed arms and legs
  • differing lengths of arms and legs
  • short stature

In addition to hemangiomas, Maffucci syndrome can cause a person to develop lymphangiomas, which are localized noncancerous proliferation of a person’s lymphatic vessels. These vessels carry lymph fluid around a person’s body, transporting white blood cells to necessary areas to help fight infections.

To diagnose the condition, a healthcare professional can check a person for characteristic signs of Maffucci syndrome. They can do this by carrying out a physical examination of the person and performing imaging scans such as X-rays.

A healthcare professional may also ask a person about their medical history during their assessment. Additionally, they may take samples from any cartilage growths to check whether they are enchondromas or chondrosarcomas.

The treatment a person receives for Maffucci syndrome can vary depending on their symptoms. If a person experiences no symptoms, they may not require treatment.

For example, a healthcare professional can treat hemangiomas that result from Maffucci syndrome by injecting them with a sclerosing agent. This hardens and shrinks the hemangiomas. However, surgery to remove the hemangiomas is often also necessary.

Similarly, surgery is typically necessary to remove enchondromas. A specialist in hand surgery may need to correct any bone problems that cause loss of function or fracturing in a person’s hand. An orthopedic surgeon can address any problems with differences in leg length, curvature of the spine, or other skeletal issues.

People with Maffucci syndrome generally have a typical life span. The longevity of those who develop Maffucci-related malignancies or second cancers depends on the particulars of their clinical condition.

The condition may cause varying degrees of physical impairment depending on the extent of any skeletal irregularities the person has. In general, Maffucci syndrome should not cause a person to experience any severe limitations.

The National Organization for Rare Disorders states that people with Maffucci syndrome should regularly attend appointments with healthcare professionals to check for the development of any cancerous tumors.

Maffucci syndrome is an extremely rare condition that causes growths to develop in cartilage and blood vessels and can cause bone problems. People with this condition may also have an increased risk of developing certain cancers elsewhere in the body.

Maffucci syndrome has many similarities to Ollier disease. However, Maffucci syndrome is distinguishable from this condition by the presence of hemangiomas. Maffucci syndrome occurs as a result of somatic variations in the genes IDH1 and IDH2. At present, scientists do not clearly understand the link between this genetic change and the condition.

Treatment for Maffucci syndrome depends on a person’s symptoms. If a person needs treatment, it will generally involve surgery. A person with Maffucci syndrome usually has a typical life expectancy. However, it is important that they regularly attend medical appointments to check for signs of possible cancer.