Summary about Disease
Maffucci syndrome is a rare, non-hereditary congenital disorder characterized by multiple enchondromas (benign cartilage tumors that develop within bones) and hemangiomas (abnormal collections of blood vessels) or lymphangiomas (abnormal collections of lymphatic vessels). These lesions can cause skeletal deformities, pain, and an increased risk of developing certain types of cancer, particularly chondrosarcoma (a type of bone cancer).
Symptoms
Enchondromas: These are the most common feature. They typically appear in the hands and feet but can occur in other bones. They can cause pain, swelling, and bone deformities.
Hemangiomas/Lymphangiomas: These vascular malformations can appear as bluish or reddish nodules under the skin. They may also occur in internal organs.
Skeletal Deformities: Uneven bone growth due to enchondromas can lead to limb length discrepancies, scoliosis, and other deformities.
Pathologic Fractures: Bones weakened by enchondromas are prone to fractures.
Pain: Can be caused by the enchondromas, vascular lesions, or fractures.
Causes
Maffucci syndrome is caused by somatic mosaic mutations in the IDH1 or *IDH2* genes. These mutations are *not* inherited from parents but occur randomly during early embryonic development. "Somatic mosaic" means that the mutation is present in some cells of the body but not all, and it's not present in the germline cells (sperm or egg).
Medicine Used
There is no specific medication to cure Maffucci syndrome. Treatment focuses on managing symptoms and complications:
Pain Management: Analgesics (pain relievers), including over-the-counter medications and prescription pain relievers, may be used.
Surgery: Surgical interventions may be necessary to remove or debulk painful or deforming enchondromas, correct skeletal deformities, stabilize fractures, or remove cancerous tumors.
Bisphosphonates: These medications may be used to strengthen bones and reduce the risk of fractures.
Targeted Therapies: If chondrosarcoma develops, targeted therapies that inhibit IDH1/IDH2 mutations may be considered in some cases, although their effectiveness in Maffucci syndrome specifically is still under investigation.
Chemotherapy/Radiation: For chondrosarcoma if surgery is not possible or effective.
Is Communicable
No, Maffucci syndrome is not communicable. It is a genetic disorder caused by a random mutation and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent Maffucci syndrome, as it is caused by a spontaneous genetic mutation. However, individuals with the condition should take the following precautions:
Regular Medical Monitoring: Regular checkups with a specialist (orthopedic surgeon, oncologist, dermatologist) are crucial to monitor for complications such as cancer development and skeletal deformities.
Avoid Trauma: Protect bones from injury to minimize the risk of fractures.
Sun Protection: Protect hemangiomas/lymphangiomas from sun exposure.
Genetic Counseling: Although not inherited, genetic counseling can be helpful for families to understand the condition and potential risks.
How long does an outbreak last?
7. How Long Does An Outbreak Last? Maffucci syndrome is not an "outbreak" condition. It is a chronic disorder that is present from birth or early childhood and persists throughout life. The symptoms and complications can vary in severity over time, but there is no specific "outbreak" period.
How is it diagnosed?
Diagnosis typically involves:
Clinical Examination: Physical examination to identify enchondromas, hemangiomas/lymphangiomas, and skeletal deformities.
Imaging Studies: X-rays, MRI, and CT scans to visualize the bones and soft tissues, and to assess the extent of enchondromas and vascular lesions.
Biopsy: Biopsy of a bone lesion or vascular lesion to confirm the diagnosis and rule out malignancy.
Genetic Testing: Genetic testing for IDH1 and *IDH2* mutations can confirm the diagnosis, although a negative result does not rule out the syndrome.
Timeline of Symptoms
9. Timeline Of Symptoms
Early Childhood (often before age 10): Appearance of enchondromas and hemangiomas/lymphangiomas is typical.
Childhood/Adolescence: Skeletal deformities become more apparent as bones grow. Pathologic fractures may occur.
Adulthood: Risk of chondrosarcoma development increases. Existing enchondromas may continue to grow and cause problems. Vascular lesions may enlarge or bleed.
Important Considerations
Cancer Surveillance: Due to the increased risk of chondrosarcoma, regular cancer screening is essential, including imaging studies and physical examinations.
Individualized Treatment: Management of Maffucci syndrome is highly individualized based on the severity of symptoms, the location and size of lesions, and the presence of complications.
Multidisciplinary Care: Optimal care requires a team of specialists, including orthopedic surgeons, oncologists, dermatologists, radiologists, and geneticists.
Psychological Support: The chronic nature of the condition and the potential for disfigurement can have a significant impact on psychological well-being. Counseling and support groups can be helpful.
Rare Disease: Maffucci syndrome is very rare, therefore finding specialist that have experience with this syndrome is important.