Understanding Maffucci Syndrome Symptoms, Causes and Treatment

Written by Medicover Team and Medically Reviewed by Dr Kovvuru Bhaskar Reddy , Oncologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Maffucci syndrome is a rare, non-hereditary disorder characterized by the development of multiple enchondromas, which are benign cartilage tumors inside the bones, along with hemangiomas, abnormal clusters of blood vessels. First described by Angelo Maffucci in 1881, the condition affects bone growth and blood vessels, leading to skeletal deformities and vascular abnormalities.

The disorder usually appears during childhood and progresses as the individual grows. Although Maffucci syndrome is not inherited, it can increase the risk of certain cancers, making early diagnosis and regular monitoring important.

Are There Different Types of Maffucci Syndrome?

Maffucci syndrome itself does not have clearly defined subtypes, but its features vary depending on the number and distribution of enchondromas and hemangiomas.

Enchondroma-dominant cases with mainly bone lesions
Hemangioma-dominant cases with more vascular abnormalities
Mixed presentations with both bone and vascular lesions occurring together

What Are the Symptoms of Maffucci Syndrome?

The symptoms of Maffucci syndrome usually appear during childhood or adolescence and may worsen as the bones develop.

Multiple enchondromas affecting bones in the hands, feet, and long bones
Bone deformities due to abnormal cartilage growth
Asymmetrical limb growth
Frequent bone fractures caused by a weakened bone structure
Soft, bluish skin nodules caused by hemangiomas
Short stature related to skeletal abnormalities
Limb-length discrepancies
Increased risk of developing cancers such as chondrosarcoma cancer, glioma, or pancreatic adenocarcinoma

What Causes Maffucci Syndrome?

The exact cause of Maffucci syndrome is not completely understood, but it is believed to result from somatic mutations that occur after fertilization.

Mutations in the IDH1 and IDH2 genes
Somatic mosaic mutations affecting only certain cells in the body
Abnormal cartilage cell growth leading to enchondromas
Abnormal blood vessel formation resulting in hemangiomas
Genetic mutations occur sporadically rather than being inherited

When Should You See a Doctor for Maffucci Syndrome?

Medical evaluation is important if symptoms suggest bone or vascular abnormalities that may indicate Maffucci syndrome. Consult a Oncologist if you identify any of these symptoms:

Unusual bone deformities during childhood
Frequent bone fractures without major injury
Bluish nodules or vascular lesions on the skin
Uneven limb growth or limb-length differences
Persistent bone pain or swelling

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How Is Maffucci Syndrome Diagnosed?

Diagnosing Maffucci syndrome involves evaluating clinical symptoms and confirming the presence of enchondromas and hemangiomas through imaging and laboratory tests.

Physical examination to detect skeletal deformities and vascular lesions
X-rays to identify enchondromas within the bones
CT scans or MRI to evaluate bone and soft tissue abnormalities
Radiological imaging to differentiate the condition from Ollier disease
Genetic testing to detect IDH1 or IDH2 mutations

What Are the Treatment Options for Maffucci Syndrome?

There is currently no cure for Maffucci syndrome. Treatment focuses on managing symptoms, correcting deformities, and monitoring for potential complications.