Khosrotehrani Kiarash, Bastuji-Garin Sylvie, Riccardi Vincent M, Birch Patricia, Friedman Jan M, Wolkenstein Pierre
Department of Dermatology and Réseau NF-Mondor, Hôpital Henri-Mondor, AP-HP, Paris XII University, Créteil, France.
Am J Med Genet A. 2005 Jan 1;132A(1):49-53. doi: 10.1002/ajmg.a.30394.
Neurofibromatosis 1 (NF1) is a common genetic disorder with an autosomal dominant mode of inheritance, an increased morbidity and mortality, and a shorter lifespan. Although the disease is fully penetrant by the age of 8, the variability in symptoms and complications is high, even among members of the same family. The aim of this study was to identify easily recognizable clinical features that may be associated with mortality in a cohort of patients affected with NF1. We used prospectively collected data from the Neurofibromatosis Institute Database (NFID) and included in our analysis 703 patients who fulfilled the NIH diagnostic criteria for NF1. Clinical, especially dermatological features were tested as potential factors associated with mortality. Among the patients, 405 (57.6%) were children and 298 (42.4%) were adults. The mean follow-up was 2.4 years (median = 0.98, range: 0-15.3 years). Forty patients died during follow-up, mostly due to tumor development such as sarcoma (n = 18). In the adult population, subcutaneous neurofibromas (odds ratio [OR] = 3.6, 95% confidence interval (CI): [1.2-11.3], P = 0.02) and male gender (OR = 5.6, [1.5-20.9], P = 0.004) were independent predictors of mortality after adjustment for age. Among children, the presence of facial plexiform neurofibromas and pruritus were significantly associated with mortality in univariate analysis. Our study describes independent risk factors of mortality in a large cohort of adult and pediatric patients. Close follow-up should be obtained for patients presenting with subcutaneous neurofibromas.
神经纤维瘤病1型（NF1）是一种常见的遗传性疾病，具有常染色体显性遗传模式，发病率和死亡率增加，寿命缩短。尽管该疾病在8岁时完全显性，但症状和并发症的变异性很高，即使在同一家族成员中也是如此。本研究的目的是在一组患有NF1的患者中确定可能与死亡率相关的易于识别的临床特征。我们使用了从神经纤维瘤病研究所数据库（NFID）前瞻性收集的数据，并将703名符合美国国立卫生研究院（NIH）NF1诊断标准的患者纳入分析。临床特征，尤其是皮肤特征被作为与死亡率相关的潜在因素进行检测。在这些患者中，405名（57.6%）为儿童，298名（42.4%）为成人。平均随访时间为2.4年（中位数=0.98，范围：0 - 15.3年）。40名患者在随访期间死亡，主要是由于肿瘤进展，如肉瘤（n = 18）。在成年人群中，皮下神经纤维瘤（优势比[OR]=3.6，95%置信区间（CI）：[1.2 - 11.3]，P = 0.02）和男性性别（OR = 5.6，[1.5 - 20.9]，P = 0.004）在调整年龄后是死亡率的独立预测因素。在儿童中，面部丛状神经纤维瘤和瘙痒在单因素分析中与死亡率显著相关。我们的研究描述了一大群成年和儿科患者死亡率的独立危险因素。对于出现皮下神经纤维瘤的患者应进行密切随访。
