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What

Maffucci syndrome is a rare condition that affects the skin and the skeletal systems. It is characterized by three abnormalities: endochondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (malformations of blood vessels). These malformed blood vessels are usually underneath the skin. The cartilage enlargements can appear anywhere but usually appear on the long bones of the legs and arms.

Who

Maffucci syndrome is very rare. Less than 100 cases have been reported in the United States. It can occur in all ethnic groups and equally in both males and females. Children with Maffucci Syndrome usually display signs of the condition early in life, usually around the age of 4 or 5 years, with some infants showing symptoms from the time of birth.

Signs and Symptoms

Children with Maffucci Syndrome may have the following symptoms:

• Shortened length of the long bones (arms and legs)
  
• Short stature
  
• Unequal leg and/or arm length due to bone abnormalities
  
• Scoliosis (abnormal side to side curvature of the spine)
  
• Bones that fracture easily
  
• Hard nodules of cartilage (endochondromas) on fingers, toes, legs, and arms-The majority of cases have nodules appearing on the hands
  
• Dilated veins that appear on the skin as soft, bluish-colored growths (usually on the arms and legs but they can appear anywhere)
  
• Veins are clumped together under the skin and have a worm-like appearance

Possible Causes

The cause of Maffucci Syndrome is unclear. Maffucci Syndrome is thought to be due to abnormal development of the mesoderm, the tissue that gives rise to bone, cartilage, and blood vessels during prenatal growth of the embryo. While most cases of the syndrome are sporadic, some instances of familial occurrence have been reported. However, there is not enough evidence to conclude that this syndrome is due to a genetic abnormality.

Diagnosis

A diagnosis of Maffucci Syndrome is made by clinical examination and evidence of the associated symptoms. To confirm the diagnosis an X-Ray or CT scan can be done on the affected areas.

Treatment

Unfortunately, there is no cure for Maffucci Syndrome. Regular follow-up care from a physician is important to detect and evaluate new changes in the skin, blood vessels, cartilage, and bone.

Prognosis

The prognosis for children with Maffucci Syndrome is generally good. There is, however, a relatively high risk of the benign cartilage enlargements becoming malignant (cancerous) when the child becomes an adult. In this malignant form of cartilage enlargement called chondrosarcoma, the cartilage can have uncontrolled, invasive, destructive growth. This occurs in about 30% of patients. This possibility should be considered if a lesion increases further in size after a child is grown or if the lesion becomes painful. Due to the risk of malignancy, periodic X-rays are recommended to detect changes in the enchondromas. Also, lesions that enlarge rapidly or cause symptoms should be examined. Patients have a good prognosis if no malignant degeneration develops. Usually, the skin and bone lesions progress slowly through the first or second decades of life, and stop by the second to third decade. Children with Maffucci Syndrome usually have a normal life span. Their physical activities are usually not limited, however this may vary as some children may have more difficulty because of their particular bone abnormalities.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Cincinnati Children’s Hospital
Site contains information on Maffucci Syndrome Hemangiomas and Vascular Anomolies USA

www.birthmarks.us/maffucci.htm
Site contains general information on Maffucci Syndrome Orphanet

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=296
Site has general information on Maffucci Syndrome with links to other websites, clinics, research projects, and support groups.

Google Search for Maffucci Syndrome

References and Sources

1. Kawahura, R. (2003) Maffucci Syndrome www.emedicine.com 2. American Assoc. for Multiple Enchondroma Disease Website www.aamed.net/modules.php?name=News&file=article&sid=27