Dyschondroplasia with haemangiomata (Maffucci's syndrome); report of a case complicated by intracranial chondrosarcoma.

The association of dyschondroplasia with haemangiomata is a rare condition first described by Maffucci in 1881. Of the two components of the syndrome, the dyschondroplasia is identical with Oilier’s disease and the vascular abnormalities in the form of cavernous haemangiomata and phlebectasia appear to be coincidental. Carleton, Elkington, Greenfield and Robb-Smith (1942) reviewed eighteen cases from the literature and added two of their own, suggesting that the syndrome be named after Maffucci. They and Krause (1944), who described a further case, remarked that mild degrees of the syndrome were probably more common than the small number of reported cases would indicate. Umansky (1946) has since described a mild case in a coloured girl, but notes that at the Hospital for Joint Diseases, New York, no other example of the combination was found in seventy-one cases of haemangiomata, sixty-five cases of dyschondroplasia and sixty cases of osteochondromata collected over a period of fifteen years. The case now reported, which appears to be the fifth of which an autopsy record is available, is unusual in that the base of the skull was involved. Dyschondroplasia, or Oilier’s disease, is characterised by a disturbance of bone formation in cartilage, particularly at the growing ends of the bone. There is no evidence that the condition is familial ; the patients usually appear normal at birth, the disease being first noted at any time up to puberty. The lesions are often predominantly unilateral. The cartilage persists as islands in the diaphysis and may grow to form enchondromata ; in some situations such as the phalanges, there may be great expansion and deformity of the bone. Ecchondromata are also formed, especially near the epiphysial lines. As a result of the imperfect ossification and irregular growth, bowing of the affected bones may lead to marked skeletal asymmetry, and the stresses of weight-bearing often cause secondary deformities. Owing to the delay in skeletal growth the patients are usually of small stature, and may show pronounced muscular atrophy. The lesions affect any part of the skeleton : involvement of the long bones and phalanges is common, of the skull, carpus and tarsus, uncommon. Fractures occur readily and may be slow to unite. Malignant change may develop in the chondromata. The vascular abnormalities of Maffucci’s syndrome consist of multiple cavernous haemangiomata and phlebectasia. The haemangiomata may occur in the subcutaneous tissue anywhere, but have also been noted in the lips, palate and mesocolon. They form blue or reddish-blue tumours which are soft, compressible, and sometimes tender on pressure. Thrombi may form and sometimes become calcified; as phleboliths they produce a striking radiographic picture in the soft tissues. Phlebectasia is common and may affect large groups of veins or be confined to a few local areas in a vein, causing bead-like swellings.