Dyschondroplasia with Hemangiomata (Maffucci's Syndrome)

Abstract

The association of dyschondroplasia (Ollier's disease) with hemangiomatosis of the cavernous type is unusual. According to Carleton et al. (3), this syndrome was first described by Maffucci in 1881. In 1942, in a thorough search of the literature, the former writers were able to collect 18 examples, to which they added 2. Umansky (11) in 1946 reported an early case with mild bony changes, from the Hospital for Joint Diseases, New York. In a systematic review of 71 cases of hemangiomata, 65 of dyschondroplasia, and 60 of osteochondromata collected over a period of fifteen years, he could find no other instance of the combination. Although Krause (6) was of the opinion that milder forms of the syndrome are probably more common than the small number of recorded cases would indicate, there have actually appeared only a few more single case reports (4, 7–10). The most recent cases (2, 5, 8) bring the total number to 29. The reported examples have occurred in Anglo-Saxons, Negroes, Poles, and Italians, but apparently the condition has not previously been found in a Mongolian. With the addition here of a case in a Korean girl, it appears that there is no racial predilection. The case to be reported is of further interest because of the performance of angiography. Case Report Y. Y. H., a 13-year-old Korean girl, was admitted to St. Mary's Hospital, Seoul, Korea, June 19, 1963, for the evaluation of multiple grapefruit-like tumors of the right ankle and foot of six years duration. The patient had appeared normal and in good health until the age of seven when she sprained her right knee. Not long afterward, a few small bulges appeared on the medial plantar area below the right ankle, gradually increasing in size, number, and extent. Because of pain in the lower leg and the fear of further tumor growth, the patient refrained from daily activity. The affected leg became diffusely enlarged, and the tumors discolored. The accumulation of masses at the ankle prevented dorsiflexion of the foot. No other member of the family had suffered a similar illness, and the family history was not contributory. The patient appeared well developed and well nourished and was in no acute distress. The right leg (Fig. 1) was diffusely thickened, and the numerous tumors about the ankle and foot were of a dark blue color and covered by horny skin. No bruit could be heard. The foot was held in plantar flexion. The tibia was lightly bowed, with convexity toward the medial side. The affected leg was shorter than its mate by 3 cm. A survey of the other parts of the body was unremarkable. Vital signs and results of laboratory studies were all within normal limits. The patient refused surgery, even biopsy. Roentgenography: The general roentgen picture was in accord with the physical findings. The right lower leg was diffusely enlarged and shorter than the left. The tumors on the medial plantar area were of fingertip size, and scattered discrete masses throughout the dorsum of the foot produced an undulating appearance.