Maffucci syndrome

Maffucci syndrome is a rare, non-hereditary disorder characterized by the presence of multiple enchondromas - benign growths of cartilage that develop within the bones, and hemangiomas - benign tumors made up of blood vessels.

Pronunciation

Maffucci syndrome is pronounced as ma-foo-chee sin-drome.

Etymology

The syndrome is named after Italian pathologist Angelo Maffucci, who first described the condition in 1881.

Symptoms

The most common symptoms of Maffucci syndrome include:

Multiple enchondromas, usually appearing in childhood. These are most commonly found in the small bones of the hands and feet, but can also occur in the long bones of the arms and legs, and less commonly, the skull and spine.
Hemangiomas, which can appear anywhere on the body but are most commonly found on the skin and mucous membranes. These are usually present at birth or appear in early childhood.
Other possible symptoms include bone deformities, short stature, and an increased risk of certain types of cancer, particularly chondrosarcoma - a type of bone cancer that originates in cartilage.

Diagnosis

Diagnosis of Maffucci syndrome is usually based on the characteristic physical findings. Imaging tests such as X-rays, CT scans, or MRI may be used to identify enchondromas and hemangiomas. Genetic testing can also be helpful, as the condition has been associated with mutations in the IDH1 and IDH2 genes.

Treatment

There is currently no cure for Maffucci syndrome. Treatment is symptomatic and supportive, and may include surgery to remove enchondromas or hemangiomas if they are causing problems, and regular monitoring for complications such as malignant transformation of enchondromas into chondrosarcomas.

Related Terms

External links

Medical encyclopedia article on Maffucci syndrome
Wikipedia's article - Maffucci syndrome

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