Vaassen Pia, Rosenbaum Thorsten
Department of Pediatrics, Sana Kliniken Duisburg, Wedau Kliniken, Duisburg, Germany.
Neuropediatrics. 2016 Jun;47(3):190-3. doi: 10.1055/s-0036-1579786. Epub 2016 Mar 28.
Diagnosis of neurofibromatosis type 1 (NF1) can be established when at least two out of seven defined clinical findings are present. However, a definite clinical diagnosis may be challenging, especially in young children. Therefore, we tried to identify additional clinical signs suggestive of NF1. We observed that nevi anemici (NA) occur with increased frequency in NF1 patients. To establish NA as an additional diagnostic criterion for NF1 we evaluated their exact frequency in children potentially affected by NF1. During a 6-month period we examined 100 NF1 patients and documented patients' age and sex as well as presence, location, and characteristic features of NA. We were able to show that NA are present in 28% of NF1 patients, which is well above the 5% prevalence of NA in the general population. It is not known why NA appear with increased frequency in NF1. We hypothesize that an imbalance between α- and β-adrenergic receptors, resulting in increased α-adrenergic vasoconstriction might be the underlying cause of NF1-associated NA. Based on our own observations and previously published studies, we propose that NA in children with suspected NF1 might facilitate definite diagnosis and improve clinical management.
当出现七种明确的临床症状中的至少两种时，即可确诊1型神经纤维瘤病（NF1）。然而，明确的临床诊断可能具有挑战性，尤其是在幼儿中。因此，我们试图找出提示NF1的其他临床体征。我们观察到，贫血痣（NA）在NF1患者中出现的频率增加。为了将NA确立为NF1的一项额外诊断标准，我们评估了其在可能受NF1影响的儿童中的准确频率。在6个月的时间里，我们检查了100例NF1患者，并记录了患者年龄、性别以及NA的存在情况、位置和特征。我们能够证明，28%的NF1患者存在NA，这远高于普通人群中5%的NA患病率。目前尚不清楚为什么NA在NF1患者中出现的频率会增加。我们推测，α-和β-肾上腺素能受体之间的失衡，导致α-肾上腺素能血管收缩增加，可能是NF1相关NA的潜在原因。基于我们自己的观察和先前发表的研究，我们建议，疑似NF1儿童中的NA可能有助于明确诊断并改善临床管理。
