[Segmental neurofibromatosis. Description of our 2d clinical case and review of the literature].

Segmental neurofibromatosis is characterized by the unilateral and segmental appearance of neurofibromas, schwannomas, plexiform neurofibromas and/or café au lait spots and axillary freckling. The aetiology is not clear but the disorder has been postulated to be secondary to a postzygotic (hence non-transmissable) somatic mutational event. In the present study we describe a 43 year old woman affected by neurofibromas on the left forearm. This is our second report of a case of segmental neurofibromatosis and occurs shortly afterwords the first. To the best of our knowledge only 28 additional cases of this very rare disease have been reported in the literature. Their main features are reviewed.