hrp0094p2-408 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Plexiform neurofibroma of the penis as an infrequent manifestation debut in a pediatric patient

Peña Fernanda , Martínez Alejandro , García Cristian , Dossi Teresa , Kolbach Marianne , Mellado Cecilia , Baquedano Paulina

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...