Background: Neurofibromatosis type 1 (NF1) is a rare multisystem disorder characterized by variable expressivity and increased tumor risk. Café-au-lait macules (CALMs) are a hallmark of the disease, often representing one of the earliest clinical manifestations and allowing a clinical NF1 diagnosis if six or more are present. In this study, we aimed to investigate the prognostic value of CALMs at birth in NF1 patients. Methods: We conducted a retrospective study in patients aged ≥ 4 years presenting with CALMs at our Institution between 2020 and 2021, with a minimum follow-up of four years. We retrospectively collected data on CALMs at birth and other clinical manifestations associated with NF1. Results: Among 208 patients evaluated, including 147 with a confirmed diagnosis of NF1, 110 did not show CALMs at birth, and 98 had at least one. The absence of CALMs at birth did not correlate with a lower likelihood of NF1. In contrast, the CALM number at birth directly correlated with the likelihood of NF1, up to 95% in patients with ≥5 macules. Additionally, a higher number of CALMs correlated with a greater prevalence of plexiform neurofibromas (p< 0.001). Conclusions: Our findings suggest that a higher number of CALMs may indicate a more severe form of NF1, with an increased risk of plexiform neurofibromas. These results emphasize the importance of a comprehensive evaluation of patients with CALMs, especially in case of multiple lesions, aiming at implementing early NF1 diagnosis, follow-up strategies, and overall patient management.
背景：1型神经纤维瘤病（NF1）是一种罕见的多系统疾病，以表现度多变和肿瘤风险增加为特征。牛奶咖啡斑是该病的标志性表现，常作为早期临床症状之一，若出现六处或以上即可临床诊断为NF1。本研究旨在探讨NF1患者出生时牛奶咖啡斑的预后价值。方法：我们对2020年至2021年间在本机构就诊、年龄≥4岁且伴有牛奶咖啡斑的患者进行了一项回顾性研究，随访时间至少四年。我们回顾性收集了患者出生时牛奶咖啡斑的数据及其他与NF1相关的临床表现。结果：在评估的208例患者中（包括147例确诊为NF1的患者），110例出生时未出现牛奶咖啡斑，98例至少有一处。出生时无牛奶咖啡斑与NF1患病可能性降低无关。相反，出生时牛奶咖啡斑的数量与NF1患病可能性直接相关，在斑点数≥5处的患者中患病率高达95%。此外，牛奶咖啡斑数量越多，丛状神经纤维瘤的患病率越高（p<0.001）。结论：我们的研究结果表明，牛奶咖啡斑数量较多可能提示NF1病情更严重，且丛状神经纤维瘤风险增加。这些结果强调了对牛奶咖啡斑患者进行全面评估的重要性，特别是在多发性皮损的情况下，旨在实施早期NF1诊断、随访策略及整体患者管理。
Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker?
肿瘤(癌症)患者之家