Kim Minsu, Han Suhyun, Choi Chong Won, Kim Bo Ri, Youn Sang Woong
Department of Dermatology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea.
Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Acta Derm Venereol. 2025 Jun 25;105:adv43416. doi: 10.2340/actadv.v105.43416.
Neurofibromatosis type 1 (NF1) affects multiple organs progressively, leading to a shortened life expectancy. This study aimed to identify the complications that are prominent in each age group by comparing 28,082 patients with NF1 and 84,246 matched controls. Benign and malignant neoplasms along with neurological complications were the primary contributors to hospital use across most age groups. Respiratory and circulatory disorders were a common cause of hospital use in children and older adults, respectively. Except for soft tissue and central nervous system-originated malignancies, which are well-established NF1-related tumours, the highest rate ratios (RR) of malignancies with statistical significance was observed in the adrenal gland (0-9 years, RR 50.67, 95% CI 6.74-380.76); female genital organs (10-14 years, RR 12.06, 95% CI 1.35-107.93); respiratory and intrathoracic organs (15-19 years, RR 15.10, 95% CI 1.76-129.22; 20-29 years, RR 7.59, 95% CI 2.94-19.56; ≥ 60 years, RR 1.38, 95% CI 1.18-1.61); lip, oral cavity, and pharynx (30-39 years, RR 6.11, 95% CI 1.53-24.42); and bone and articular cartilage (40-49 years, RR 3.06, 95% CI 1.37-6.81; 50-59 years, RR 4.73, 95% CI 2.35-9.50). Comorbidities and malignancies that predominantly affect patients vary by age group; physicians should be aware of the appropriate management strategies throughout their lifespan.
1型神经纤维瘤病（NF1）会逐渐影响多个器官，导致预期寿命缩短。本研究旨在通过比较28082例NF1患者和84246例匹配对照，确定各年龄组中突出的并发症。在大多数年龄组中，良性和恶性肿瘤以及神经系统并发症是住院治疗的主要原因。呼吸和循环系统疾病分别是儿童和老年人住院的常见原因。除了软组织和中枢神经系统起源的恶性肿瘤（这是已明确的与NF1相关的肿瘤）外，在肾上腺（0 - 9岁，相对危险度[RR] 50.67，95%置信区间[CI] 6.74 - 380.76）；女性生殖器官（10 - 14岁，RR 12.06，95% CI 1.35 - 107.93）；呼吸和胸腔内器官（15 - 19岁，RR 15.10，95% CI 1.76 - 129.22；20 - 29岁，RR 7.59，95% CI 2.94 - 19.56；≥60岁，RR 1.38，95% CI 1.18 - 1.61）；唇、口腔和咽部（30 - 39岁，RR 6.11，95% CI 1.53 - 24.42）；以及骨和关节软骨（40 - 49岁，RR 3.06，95% CI 1.37 - 6.81；50 - 59岁，RR 4.73，95% CI 2.35 - 9.50）中观察到具有统计学意义的恶性肿瘤最高发生率比（RR）。主要影响患者的合并症和恶性肿瘤因年龄组而异；医生在患者的整个生命周期中应了解适当的管理策略。
