Department of Urology, University of Florida, Gainesville, FL.
Department of Pathology, University of Florida, Gainesville, FL.
Urology. 2019 Nov;133:219-221. doi: 10.1016/j.urology.2019.07.016. Epub 2019 Jul 25.
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by a mutation on chromosome 17 of the gene for neurofibromin. Patients with this condition are prone to develop benign and malignant tumors of the central and peripheral nervous systems. Genitourinary involvement in children with NF1 is uncommon and primarily affects the bladder. External genital manifestations of NF1 are rare with sporadic reports of children presenting with enlargement of their penis, clitoris, or labia due to a neurofibroma. We present a case of painful clitoromegaly due to a plexiform neurofibroma in a child.
神经纤维瘤病 1 型（NF1）是一种由神经纤维瘤蛋白基因 17 号染色体突变引起的神经皮肤疾病。患有这种疾病的患者易患中枢和周围神经系统的良性和恶性肿瘤。NF1 患儿的泌尿生殖系统受累并不常见，主要影响膀胱。NF1 的外生殖器表现罕见，有散发病例报道称，儿童因神经纤维瘤而出现阴茎、阴蒂或阴唇增大。我们报告了一例因丛状神经纤维瘤引起的儿童阴蒂痛性肥大病例。
