Swelling of the dorsum of the hand and/or foot can be a first sign of Maffucci syndrome

The cardinal feature of Maffucci syndrome is the coexistence of enchondroma tosis and vascular anomalies. The patients are usually normal at birth, the disease becoming evident at any time up to puberty. Association of soft-ti ssue swelling has been described in this syndrome but has not been listed a s a sign or symptom. We report three cases in which the initial sign was di ffuse swelling of the dorsum of the hand and/or foot. This was noticed at b irth in cases 1 (girl) and 3 (girl) and at the age of 1 month in case 2 (bo y), who otherwise appeared normal except for case 3 who had a rectovestibul ar fistula. The pathology of the swollen soft tissue was adipose tissue ass ociated with various degrees of thickened and fibrotic septum containing di lated lymphatic channels. These dilated channels within the septum were so subtle that they were initially overlooked in cases I and 2. Awareness that swelling of the dorsum of the hand or foot can be the sole sign and sympto m of Maffucci syndrome before the typical indications become evident helps the physician establish an early diagnosis of this condition.