Maffucci syndrome

The Maffucci syndrome describes an extremely rare, usually sporadic developmental disorder of the mesoderm. So far, about 250 cases have been described in literature, with no evidence of ethnic, geographic or sexual accumulation.

The age of onset of the disease is between the ages of 1 and 5 years. About a quarter of the patients show clinical symptoms at birth. Initially, benign cartilaginous growths form on the phalanges and long bones. Later, multiple enchondromas develop that develop into painless swelling of the fingers or pathological fractures with significant deformities.

Another symptom is capillary malformations, for example, on the extremities or malformations of the veins and lymphatics. The lesions of the skeleton and the vessels are in most cases asymmetric and progressive.

The disease can be associated with benign or malignant tumors.

The cause of Maffucci syndrome is unknown so far, but a link to mesodermal dysplasia in early life is suspected.