Waldner Richelle C, Rojas-Vasquez Marta, Metcalfe Peter D, Haqq Andrea M
Division of Endocrinology and Metabolism, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Division of Immunology, Department of Pediatrics, Hematology, Oncology and Palliative Care, University of Alberta, Edmonton, Alberta, Canada.
J Pediatr Genet. 2020 Aug 31;11(2):139-143. doi: 10.1055/s-0040-1715638. eCollection 2022 Jun.
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 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.
I型神经纤维瘤病（NF1）患者的外生殖器出现丛状神经纤维瘤（PN）是导致非激素性阴蒂肥大的罕见原因。我们报告一名3岁已知患有NF1的女性，她出现了阴蒂肥大。经检查发现她有一个广泛的盆腔肿块，累及膀胱壁、会阴、阴唇、阴蒂、直肠和骶孔。进行了部分膀胱切除术，组织病理学检查结果与PN一致。她已开始使用丝裂原活化蛋白激酶激酶抑制剂曲美替尼进行治疗，在5个月的时间里，该药物对膀胱肿块起到了有效的治疗作用。此外，自开始治疗以来，她在使用曲美替尼后出现了临床反应，尿急和尿频症状得到缓解。
