Abstract
Plexiform neurofibroma (PN) involvement of the external genitalia in patients with
neurofibromatosis type I (NF1) is a rare cause of nonhormonal clitoromegaly. We present
a 3-year-old female with known NF1 who presented with clitoromegaly. She was identified
with an extensive pelvic mass involving the bladder wall, perineum, labia, clitoris,
rectum, and sacral foramina. A partial cystectomy was performed, and histopathology
was consistent with PN. She has been initiated on a mitogen activated protein kinase
enzyme kinase inhibitor, trametinib, which has been effective in achieving partial radiographic response of the bladder mass over 5 months. Additionally, she has experienced clinical response
to trematinib with resolution of urinary urgency and frequency since initiating treatment.
Keywords
plexiform neurofibroma - clitoromegaly - MEK inhibitor
