Open AccessExtensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor
Author(s) -
Richelle C. Waldner,
Marta RojasVasquez,
Peter Metcalfe,
Andrea M. Haqq
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1715638
Subject(s) - medicine , plexiform neurofibroma , labia , neurofibromatosis , clitoris , trametinib , neurofibroma , histopathology , surgery , anatomy , pathology , biology , mapk/erk pathway , kinase , microbiology and biotechnology
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.