Clinical Features of NF1 in the Skin

Abstract

Cutaneous lesions of NF1, in analogy of those of tuberous sclerosis, have a specific age of onset: at birth for café-au-lait macules (CALMs), herald patch of plexiform tumors and anemic nevus, during childhood for CALMs at major folds (former called freckling) and choroidal hamartomas, and in late childhood and puberty for Lisch nodules and neurofibromas (see also Fig. 4.1in Chap. 4). Definitive diagnosis may, therefore, be delayed by years.