Can Surgery Correct Deformities in Maffucci Syndrome?

Surgical Options for Maffucci Syndrome | Costs & Outcomes

Maffucci syndrome is a disorder that primarily affects the bones and skin of a person. The signs and symptoms range from mild to rare. It causes abnormal lesions and growths, either of malignant (cancerous) or benign (non-cancerous) nature.

For instance, approximately 30–40% of individuals with Maffucci syndrome develop chondrosarcoma during their lifetime. It is a type of bone cancer which requires quick surgical intervention.

How Does Surgery Correct Deformities in People with Maffucci Syndrome?

Surgical intervention in Maffucci syndrome includes corrective osteotomies and limb-lengthening for deformities, along with resection of malignant or high-risk enchondromas (e.g., chondrosarcomas). Case reports support use of monolateral external fixation and intramedullary nailing. A few other complications of Maffucci syndrome that require surgery are limb length discrepancy, chondrosarcoma and oversized enchondromas.

What Other Treatment Options are Available for Maffucci Syndrome?

Apart from surgery, there are other treatment forms available for Maffucci syndrome, like management which includes regular clinical and radiological surveillance (MRI/CT), genetic testing for IDH mutations, pain management, sclerotherapy for haemangiomas, and multidisciplinary care to detect malignancy early. They can help with any further symptoms that arise due to Maffucci syndrome.

What is the Prognosis for Maffucci syndrome?

Chondrosarcomas may develop, most commonly in long bones and pelvis, though they can also occur in the skull. Those with Maffucci syndrome also face an increased risk of other cancers, such as ovarian or liver cancer. Generally, individuals with Maffucci syndrome can expect a normal lifespan, and their intelligence remains unaffected.

How Do You Diagnose Maffucci Syndrome?

The diagnosis of Maffucci syndrome happens through physical examination, detailed assessment of a person’s medical history and radiologic assessment. Furthermore, surgical removal of skin lesions and a study of it helps confirm the presence of enchondromas.

Is Maffucci Syndrome Hereditary?

Maffucci syndrome is not inherited and occurs due to somatic mutation in the body. The change in cells is thought to occur in a cell during early development, before birth.

How Rare is Maffucci Syndrome?

Maffucci syndrome is a rare disorder. Ever since it was first described in 1881 by Italian pathologist Angelo Maffucci, there have been fewer than 200 cases reported of it worldwide.  

Is Maffucci Syndrome Painful?

Maffucci syndrome can be painful as it causes complications like skin and bone lesions. The exact severity of pain differs between individuals according to the severity of symptoms.

What are the Risks and Complications of Maffucci Syndrome?

There is a vast range of complications that can arise from Maffucci syndrome, such as:

● Short-Term Complications

Maffucci syndrome causes a weakening of bones that can lead to fractures. This can disrupt the daily lives and functioning of individuals who have an active lifestyle. Cartilage tumours like enchondromas can cause pain and have a significant impact on the quality of life.

● Long-Term Complications

There is a huge risk of developing certain kinds of cancers with Maffucci syndrome. Furthermore, progressive deformities of the musculoskeletal structure can lead to more impairment.

What is the Long-Term Outlook for Individuals with Maffucci Syndrome?

People with Maffucci syndrome have a typical lifespan. The longevity of people who develop cancerous lesions and growths depends on the particulars of their clinical condition. This syndrome can also cause a physical impairment due to skeletal abnormalities.

People with Maffucci syndrome need to attend regular appointments and screenings to keep track of the progression of symptoms. It is necessary so that healthcare providers can ensure timely intervention with effective treatment during the progression of cancerous cells.