Segmental neurofibromatosis associated with hypopigmentation “en confetti”.

Abstract

Segmental neurofibromatosis is characterized in children by café-au-lait spots, while it presents neurofibromas in adults: the latter may follow café-au-lait spots on the same segment or appear more often on normal skin (1). The hypopigmented macules of our patient were reminiscent of macules "en confetti" of tuberous sclerosis. Neurofibromatosis and tuberous sclerosis are two independent phakomatoses although recently it was demonstrated that neurofibromin regulates tuberin and mTOR (2). As regards this topic there are few clinical reports of association between peripheral neurofibromatosis and tuberous sclerosis (2). Particularly interesting is the case of an adult patient (2) who presented on a lumbar segment two neurofibromas associated with angiofibromas and a shagreen plaque.