Maffucci Syndrome

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Maffucci Syndrome is a rare genetic disorder characterized by the presence of enchondromas and soft tissue hemangiomas. It is named after Angelo Maffucci, an Italian pathologist who first described the condition in 1881. This syndrome primarily affects the bones and soft tissues, leading to bone deformities, limb length discrepancy, and joint pain. In this article, we will delve into the various aspects of Maffucci Syndrome, its symptoms, causes, diagnosis, and potential treatment options.

Enchondromas: The Bone Abnormalities

Enchondromas are benign cartilage tumors that develop within the bones. In individuals with Maffucci Syndrome, these tumors can occur in multiple bones throughout the body. Enchondromas can lead to bone deformities, such as shortening or bowing of the affected bones. The presence of these tumors can also increase the risk of fractures and skeletal abnormalities.

Soft Tissue Hemangiomas: Vascular Malformations

Soft tissue hemangiomas are abnormal growths of blood vessels in the soft tissues. In Maffucci Syndrome, these hemangiomas can develop alongside enchondromas. They typically appear as red or purple nodules on the skin and can cause pain, swelling, and functional impairment. Soft tissue hemangiomas can also affect internal organs, leading to complications in some cases.

Bone Deformities and Limb Length Discrepancy

One of the prominent features of Maffucci Syndrome is the development of bone deformities. The presence of enchondromas can lead to abnormal bone growth, resulting in limb length discrepancy. This means that one limb may be shorter than the other, leading to difficulties in walking and performing daily activities. The severity of limb length discrepancy can vary among individuals with Maffucci Syndrome.

Joint Pain: A Common Symptom

Joint pain is a common symptom experienced by individuals with Maffucci Syndrome. The presence of enchondromas and soft tissue hemangiomas can cause inflammation and irritation in the joints, leading to pain and discomfort. Joint pain can significantly impact the quality of life and mobility of affected individuals.

Causes and Diagnosis

Maffucci Syndrome is caused by mutations in the IDH1 or IDH2 genes. These genes provide instructions for producing enzymes that are involved in cellular metabolism. The specific mutations in these genes result in the abnormal growth of cartilage cells and blood vessels, leading to the development of enchondromas and soft tissue hemangiomas.

Diagnosing Maffucci Syndrome involves a combination of clinical evaluation, imaging studies, and genetic testing. X-rays, CT scans, and MRIs can help identify the presence of enchondromas and soft tissue hemangiomas. Genetic testing can confirm the presence of IDH1 or IDH2 gene mutations, further confirming the diagnosis.

Treatment Options

Currently, there is no cure for Maffucci Syndrome. Treatment primarily focuses on managing the symptoms and complications associated with the condition. The approach may involve a multidisciplinary team of healthcare professionals, including orthopedic surgeons, oncologists, and dermatologists.

Some treatment options for Maffucci Syndrome include:

  • Regular monitoring of the tumors through imaging studies to detect any changes or complications.
  • Surgical interventions to address bone deformities, correct limb length discrepancy, or remove tumors causing significant pain or functional impairment.
  • Physical therapy to improve mobility, strengthen muscles, and manage joint pain.
  • Medications to alleviate pain and reduce inflammation.
  • Emotional and psychological support to cope with the challenges of living with a rare genetic disorder.


Maffucci Syndrome is a rare genetic disorder characterized by the presence of enchondromas and soft tissue hemangiomas. It can lead to bone deformities, limb length discrepancy, and joint pain. While there is no cure for Maffucci Syndrome, early diagnosis and appropriate management can help improve the quality of life for affected individuals. Regular monitoring, surgical interventions, physical therapy, and emotional support are essential components of the treatment plan. By raising awareness and supporting ongoing research, we can strive to enhance the understanding and management of this rare condition.

Haroon Rashid, MD
Rate author
Urgent Care Center of Arlington, VA
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