Maffucci Syndrome: Symptoms and Treatment

Maffucci Syndrome is a rare, non-hereditary disorder characterized by the presence of multiple enchondromas—benign cartilaginous growths—and hemangiomas, which are abnormal blood vessels. Although first described by Angelo Maffucci in 1881, this syndrome remains an enigmatic condition with multifaceted implications. 

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Maffucci Syndrome Symptoms

The symptoms of Maffucci Syndrome typically manifest during childhood or adolescence, progressing as the individual grows. The hallmark symptoms include:

Enchondromas

Enchondromas are the most prevalent symptom, primarily affecting the long bones, hands, and feet. They can lead to skeletal deformities, asymmetrical limb growth, and pathological fractures. The enchondromas can potentially transform into chondrosarcomas, a type of bone cancer, especially in adulthood.

Hemangiomas

Hemangiomas are vascular anomalies that appear as soft, bluish nodules on the skin and mucous membranes. They can cause cosmetic concerns and, in some cases, functional impairments depending on their location and size.

Other Symptoms

Individuals with Maffucci Syndrome may also experience:

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Maffucci Syndrome Radiology

Radiological imaging is crucial in diagnosing Maffucci Syndrome and differentiating it from similar conditions like Ollier disease.

Radiographic Features

Radiological assessment aids in monitoring the progression of enchondromas and evaluating for malignant transformation.

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Maffucci Syndrome Causes

The exact aetiology of Maffucci Syndrome remains elusive. However, it is hypothesized that this may arise from somatic mosaic mutations. Recent studies have implicated mutations in the isocitrate dehydrogenase (IDH1 and IDH2) genes, which are also associated with other neoplastic conditions.

Genetic Insights

Though not inherited, these genetic mutations occur post-zygotically, leading to a mosaic distribution of abnormal cells that manifest as enchondromas and hemangiomas. The sporadic nature of these mutations accounts for the variability in symptom severity and tumor distribution among individuals.

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Maffucci Syndrome Diagnosis

The diagnosis of Maffucci Syndrome relies on a combination of clinical evaluation, radiological imaging, and genetic testing.

Clinical Evaluation

The presence of multiple enchondromas and hemangiomas, particularly during childhood, is indicative of Maffucci Syndrome. A thorough physical examination is essential to assess skeletal deformities and vascular lesions.

Radiological Confirmation

X-rays, CT scans, and MRIs are employed to confirm the presence and extent of enchondromas and hemangiomas. Radiological imaging is also vital for differentiating Maffucci Syndrome from Ollier disease, which lacks associated vascular anomalies.

Genetic Testing

Genetic testing can identify IDH1 and IDH2 mutations, providing further confirmation of the diagnosis and aiding in the differentiation from similar syndromes.

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Maffucci Syndrome Prognosis

The prognosis for individuals with Maffucci Syndrome varies depending on the severity of symptoms and the presence of malignant transformations.

Risk of Malignancy

The risk of enchondromas transforming into chondrosarcomas is significantly higher in Maffucci Syndrome compared to Ollier disease. Early detection and regular monitoring through imaging are crucial for timely intervention.

Lifelong Monitoring

Continuous monitoring of bone and vascular lesions is essential to manage complications and detect malignancies early. Regular follow-ups with a multidisciplinary team of specialists, including orthopedists, radiologists, and oncologists, are recommended.

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Maffucci Syndrome Treatment

There is no cure for Maffucci Syndrome, and treatment is primarily focused on managing symptoms and complications.

Surgical Intervention

Medical Management

Emerging Therapies

Research into targeted therapies and genetic treatments is ongoing, with the potential to offer new avenues for management in the future.