PDF(Pubmed)
Abstract：
BACKGROUND: Neurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas. The most common type of tumor seen in patients with neurofibromatosis type 1 is the slow-growing and benign neurofibroma, with a subtype called plexiform neurofibroma being particularly common and causing pain, functional impairment, and cosmetic disfigurement.
METHODS: We report the case of a 20-year-old North African female patient with a history of neurofibromatosis type 1 who presented with a growing mass in her right gluteal region, which was later diagnosed as a giant cutaneous neurofibroma. Imaging studies revealed infiltration in several regions, including the urinary bladder wall, resulting in significant bilateral hydronephrosis. The patient is currently being monitored, and no excisional procedures are planned.
CONCLUSIONS: Neurofibromatosis type 1 can cause a variety of clinical symptoms, including the development of large plexiform neurofibromas. It is important to closely monitor patients with neurofibromatosis type 1 for the early detection of neurofibromas. Early detection and prompt surgical intervention are essential for preventing complications.
METHODS: We report the case of a 20-year-old North African female patient with a history of neurofibromatosis type 1 who presented with a growing mass in her right gluteal region, which was later diagnosed as a giant cutaneous neurofibroma. Imaging studies revealed infiltration in several regions, including the urinary bladder wall, resulting in significant bilateral hydronephrosis. The patient is currently being monitored, and no excisional procedures are planned.
CONCLUSIONS: Neurofibromatosis type 1 can cause a variety of clinical symptoms, including the development of large plexiform neurofibromas. It is important to closely monitor patients with neurofibromatosis type 1 for the early detection of neurofibromas. Early detection and prompt surgical intervention are essential for preventing complications.
摘要：
背景：1型神经纤维瘤病是由NF1基因突变引起的神经皮肤遗传疾病，导致形成称为神经纤维瘤的良性肿瘤。在1型神经纤维瘤病患者中最常见的肿瘤类型是生长缓慢的良性神经纤维瘤，一种叫做丛状神经纤维瘤的亚型特别常见，会引起疼痛，功能损害，和化妆品毁容。
方法：我们报告了一名20岁的北非女性患者，有1型神经纤维瘤病病史，她的右臀区出现肿块，后来被诊断为巨大的皮肤神经纤维瘤。影像学研究显示在几个地区有浸润,包括膀胱壁,导致显著的双侧肾积水。病人目前正在接受监测,并且没有计划切除程序。
结论：神经纤维瘤病1型可引起多种临床症状，包括大型丛状神经纤维瘤的发展。密切监测1型神经纤维瘤病患者对早期发现神经纤维瘤非常重要。早期发现和及时手术干预对于预防并发症至关重要。
方法：我们报告了一名20岁的北非女性患者，有1型神经纤维瘤病病史，她的右臀区出现肿块，后来被诊断为巨大的皮肤神经纤维瘤。影像学研究显示在几个地区有浸润,包括膀胱壁,导致显著的双侧肾积水。病人目前正在接受监测,并且没有计划切除程序。
结论：神经纤维瘤病1型可引起多种临床症状，包括大型丛状神经纤维瘤的发展。密切监测1型神经纤维瘤病患者对早期发现神经纤维瘤非常重要。早期发现和及时手术干预对于预防并发症至关重要。
