An Jiaqi, Wang Jianwei, Bao Zhengqing
Beijing Jishuitan Hospital, Capital Medical University, Xi Cheng District, Beijing, 100035, China.
Department of Urology, Beijing Jishuitan Hospital, Capital Medical University, Xi Cheng District, Beijing, 100035, China.
Urol Case Rep. 2025 May 29;61:103085. doi: 10.1016/j.eucr.2025.103085. eCollection 2025 Jul.
Neurofibromatosis, the most common neurocutaneous syndrome, is characterized by numerous neural crest tumors and abnormal skin pigmentation. Genitourinary neurofibromatosis in children is extremely rare and bladder involvement is relatively common. Few cases of neurofibromatosis reported so far involve external genitalia. Here we present a 17-year-old boy with genitourinary neurofibromatosis who has a significantly enlarged penis and scrotum. Although the patient had no obvious symptoms, a diagnosis and surgical evaluation were necessary due to the underlying malignancy and the patient's discomfort.
神经纤维瘤病是最常见的神经皮肤综合征，其特征为大量神经嵴肿瘤和皮肤色素沉着异常。儿童泌尿生殖系统神经纤维瘤病极为罕见，膀胱受累相对常见。迄今为止报道的神经纤维瘤病病例中，累及外生殖器的很少。在此，我们报告一名17岁患有泌尿生殖系统神经纤维瘤病的男孩，其阴茎和阴囊明显增大。尽管患者没有明显症状，但鉴于潜在的恶性病变以及患者的不适，进行诊断和手术评估是必要的。
