Causes
Maffucci syndrome is a rare genetic disorder characterized by multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessels). Maffucci syndrome is not fully understood, but it is believed to result from sporadic mutations that occur spontaneously in the IDH1 and IDH2 genes. These mutations are not inherited, but occur sporadic.
Symptoms
Symptoms of Maffucci syndrome can vary, but typically include:
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Typically found in the hands, feet, and long bones of the arms and legs, enchondromas cause bone deformities, fractures, and discrepancies in limb length.
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In various organs, hemangiomas can appear as blue or purple lesions on the skin.
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Individuals with multiple enchondromas may experience bone deformities, shortened limbs, and abnormal growth patterns.
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Fractures and pain: Enchondromas weaken bones, making them more prone to fractures and causing pain.
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It is more likely to develop malignant tumors, particularly chondrosarcomas (cancerous cartilage tumors).
Diagnosis
Several steps and diagnostic tools are involved in the diagnosis of Maffucci syndrome:
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An assessment of visible signs such as enchondromas and hemangiomas through a thorough physical examination.
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X-rays, MRIs, and CT scans are used to visualize bone tumors and assess their extent.
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Maffucci syndrome mutations are identified through genetic testing of the IDH1 and IDH2 genes.
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A biopsy of the tumor may be performed in some cases to confirm the diagnosis and rule out malignancy.
Treatment
Maffucci syndrome is treated by managing the symptoms and complications:
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The removal of enchondromas that cause pain, deformity, or functional impairment may require surgery. Hemangiomas may also require surgery if they cause complications.
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In order to detect any changes in the tumors and identify malignant tumors early, regular monitoring with imaging studies is essential.
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Management of chronic pain caused by enchondromas and fractures with medications and therapies.
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In orthopedics, braces, orthopedic devices, and corrective surgery are used to treat bone deformities and fractures.
Prevention
Since Maffucci syndrome is caused by spontaneous genetic mutations, there are no known preventative measures. However, early diagnosis and treatment can help mitigate complications and improve quality of life.
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Follow-up with healthcare providers on a regular basis to monitor the progression of the condition and detect malignancies early.
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Preventing fractures and injuries, especially in bones that are affected.
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A genetic counselor provides information and support on the genetic nature of a condition and the associated risks to affected individuals and their families.
Conclusion
It is characterized by multiple enchondromas and hemangiomas and is caused by sporadic mutations in the IDH1 or IDH2 genes. In addition to bone deformities, fractures, pain, and an increased risk of malignant tumors, Maffucci syndrome can be diagnosed through clinical evaluation, imaging studies, genetic testing, and sometimes biopsy. In addition to managing symptoms, surgical interventions are often used along with regular monitoring. Maffucci syndrome cannot be prevented, but early diagnosis and proactive management can improve outcomes.
