Maffucci syndrome is a rare congenital disorder characterized by the development of benign tumors that primarily target the bones, cartilage, and blood vessels within the limbs. Although it is often confused with Ollier disease, which is more commonly seen, Maffucci syndrome stands apart due to its distinct involvement of the blood vessels and vascular system, in addition to affecting the cartilage.
Understanding Maffucci Syndrome
Maffucci syndrome is a medical condition that presents with the presence of non-cancerous tumors in the cartilage (enchondromas) and blood vessels (hemangiomas). The cartilage, which serves as connective tissue and plays a crucial role in bone development, is primarily affected by these tumors. Specifically, the small, long bones of the hands and feet are the most commonly impacted by this syndrome. While a quarter of individuals with Maffucci syndrome may display symptoms from birth, the majority of cases begin to manifest lesions and growths between the ages of one and five.
Causes
Maffucci syndrome is an extremely uncommon genetic disorder, with a mere 200 cases documented over the last hundred years. It impacts individuals of all genders and ethnic backgrounds without any apparent discrimination. In a breakthrough discovery in 2011, researchers identified that Maffucci syndrome originates from a mutation in the IDH1 gene. It is important to note that this mutation occurs after fertilization, meaning that Maffucci syndrome is not a hereditary condition. It is also possible for certain individuals to have a mutation in a different gene, known as IDH2.