MAFFUCCI SYNDROME

SYMPTOMS

The symptoms of Maffucci syndrome can vary widely among affected individuals but may include:

• Multiple Enchondromas: Development of multiple enchondromas, particularly in the hands, feet, and long bones of the limbs, leading to skeletal deformities, limb length discrepancies, and joint stiffness.
• Cutaneous Hemangiomas: Presence of multiple hemangiomas on the skin, mucous membranes, or internal organs, which may appear as red or purple nodules or patches.
• Limb Asymmetry: Variations in limb length, girth, or shape due to the uneven growth of bones and soft tissues, leading to functional impairment and cosmetic concerns.
• Fractures: Increased risk of bone fractures and complications such as bone deformities, growth disturbances, or vascular compromise due to the presence of enchondromas and weakened bone structure.

DIAGNOSIS

Diagnosing Maffucci syndrome involves a combination of clinical evaluation, imaging studies, and genetic testing. Diagnostic steps may include:

• Medical History: Inquiring about symptoms, family history of skeletal abnormalities, fractures, or vascular lesions.
• Physical Examination: Examination of the skeletal system, skin, and soft tissues to assess for the presence of enchondromas, hemangiomas, limb asymmetry, or other characteristic features of Maffucci syndrome.
• Imaging Studies: X-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI) may be used to visualize enchondromas, assess bone structure and integrity, and detect the presence of internal hemangiomas or soft tissue abnormalities.
• Genetic Testing: Molecular genetic testing to identify mutations in the IDH1 or IDH2 genes associated with Maffucci syndrome and confirm the diagnosis in affected individuals.

TREATMENT

Treatment of Maffucci syndrome aims to manage symptoms, prevent complications, and improve quality of life. Treatment options may include:

• Monitoring and Surveillance: Regular monitoring of bone and soft tissue growth, imaging studies, and assessment of symptoms to detect and manage complications such as fractures, deformities, or malignant transformation.
• Orthopedic Interventions: Surgical interventions such as curettage, bone grafting, or limb lengthening procedures may be necessary to address skeletal deformities, stabilize fractures, or improve limb function.
• Medical Management: Symptomatic treatment of pain, inflammation, or vascular complications with medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, or antiangiogenic agents.
• Psychosocial Support: Providing emotional support, counseling, and resources to help individuals and families cope with the challenges of living with Maffucci syndrome, address body image concerns, and promote overall well-being.