Abstract：
BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.
METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.
RESULTS: The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001).
CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.
RESULTS: The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001).
CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
摘要：
背景：在没有家族史的儿童中，1型神经纤维瘤病（NF1）的诊断通常会延迟。我们的目的是定义NF1与一般人群相比，普遍皮肤表现的患病率和特征。继续被排除在NF1的诊断标准之外。
方法：病例对照研究，按年龄组匹配，其中包括108例诊断为NF1的患者和137例健康对照。
结果：受NF1影响的人群中，海血痣（NA）（P<.001）和幼年黄色肉芽肿（JXG）（P<.001）的患病率明显高于对照组。NA的特异性为99.27％（置信区间）：95.4-99.96％]和阳性预测值（PPV）为98.80％[92.54-99.94％]，在存在6个或更多Café-lau的儿童中，JXG的特异性为99.27％[95.4-99.96％]和PPV为92.86％[64.17-99.63％]。在光型分布（P=.025）以及与无其他原因的全身性瘙痒有关（P<.001），也证明了统计学上的显着差异。
结论：NA和JXG是诊断NF1的相关临床发现，尤其是在生命的最初几年。我们认为应评估将其纳入疾病的诊断标准。
方法：病例对照研究，按年龄组匹配，其中包括108例诊断为NF1的患者和137例健康对照。
结果：受NF1影响的人群中，海血痣（NA）（P<.001）和幼年黄色肉芽肿（JXG）（P<.001）的患病率明显高于对照组。NA的特异性为99.27％（置信区间）：95.4-99.96％]和阳性预测值（PPV）为98.80％[92.54-99.94％]，在存在6个或更多Café-lau的儿童中，JXG的特异性为99.27％[95.4-99.96％]和PPV为92.86％[64.17-99.63％]。在光型分布（P=.025）以及与无其他原因的全身性瘙痒有关（P<.001），也证明了统计学上的显着差异。
结论：NA和JXG是诊断NF1的相关临床发现，尤其是在生命的最初几年。我们认为应评估将其纳入疾病的诊断标准。
