[Maffucci syndrome and extensive verrucous epidermal nevi in the same leg]

Maffucci syndrome is a rare disorder characterized by multiple enchondromas associated with soft tissue haemangioma. We report a case of Maffucci syndrome associated with epidermal verrucous nevus.

A 33-year-old woman, with no previous history of note, had presented multiple episodes of vascular tumefaction of the toes and verrucous lesions of the right lower limb since childhood. Clinical examination revealed multiple pain-free and round haemangiomas on the toes; some were hard and evocative of chondromas while others were soft and suggested angiomas. In addition, there was an epidermal verrucous nevus of the right lower limb. Skeletal examination revealed multiple phalangeal enchondromas. A diagnosis of Maffucci syndrome associated with epidermal verrucous nevus was made.

Maffucci syndrome is a rare form of sporadic dysplasia characterized by superficial haemangiomas and cartilaginous tumours (enchondromas), with just over one hundred published cases to date. Localization in the bones of the hands is seen in 89% of cases, in contrast with our observation. While epidermal verrucous nevus may be associated with neurological or osseous anomalies, to our knowledge, association of epidermal verrucous nevus with Maffucci syndrome has not previously been described; the present association could of course be fortuitous.