Ipertrofia clitoridea in bambina affetta da neurofibromatosi di tipo 1

We report the case of NF1 in a 21 month old female, who presented with hypertrophy of the clitoris. The work-up evaluations revealed the presence of multiple pelvic and abdominal neurofibromas and concomitant histologically assessed presacral ganglioneuroma. Despide of multiple treatments, including chemotherapy, radiotherapy and antiangiogenic drug, the neurofibromas were in slow but continuous numerical and volumetric progression. NF1 is the most frequent syndrome at dominant autosomical transmission at variable penetrance, with a wide spectrum of clinical presentations varying from absent or mild symptoms, to severe disability.