Maffucci syndrome refers to the simultaneous presence of enchondromatosis and cavernous hemangiomas. It was first described by Maffucci in 1881.

bubble_chart Etiology

The cause of the disease is unknown, but it is generally believed to be due to abnormal development of the mesoderm, as both cartilage and blood vessels are derived from the mesoderm. There may be a gene on the chromosome that simultaneously controls the development of both cartilage and vascular tissues. When this gene is abnormal, it results in the coexistence of lesions in these two different tissues. This is a rare disease with equal incidence rates across different races and genders. There is no family history or hereditary pattern. The average age of onset is 5 years, with 25% of cases showing symptoms at birth and 45% of patients developing symptoms before the age of 6.

bubble_chart Pathological Changes

The endochondral bone tumor in the patient is indistinguishable from endochondral bone tumor disease (also known as chondrodysplasia or Ollier's disease). The majority of hemangiomas are cavernous hemangiomas, which are soft, multilobed, and lack vascular pulsation. There are also reports of capillary hemangiomas, lymphangiomas, and vascular hamartomas, often accompanied by varicose veins, venous thrombosis, and phlebolith formation.

bubble_chart Clinical Manifestations

It is often bilateral, but more pronounced on one side. It is commonly found in the metacarpals and phalanges (87.8%). Patients have normal intellectual development but are shorter in stature, with about 12% of patients having dwarfism, and often exhibit unequal leg length (36%). Sometimes, clubhand, genu varum, coxa vara, flatfoot, and other secondary deformities can be observed. Limb function is often impaired due to tumors. Skeletal lesions are not directly related to hemangiomas, meaning both can occur in different limbs independently. It does not cause pain. The malignant transformation rate of endochondral bone tumors in patients can reach 15.2-18.6%, and multiple malignant transformations can occur in the same patient. There are also reports of malignant transformation in hemangiomas. If the tumor expands in size or pain occurs without trauma, a biopsy should be promptly performed.

The diagnosis of this disease is not difficult, and the prognosis is also good. Sometimes corrective surgery is required. If the lesion cannot be corrected and severely affects function or shows signs of malignancy, amputation should be considered.