Acta Derm Venereol. 2020 Mar 25;100(7):adv00093. doi: 10.2340/00015555-3429.
Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules and skinfold freckling. Legius syndrome is not characterized by an increased risk of tumours, and a correct diagnosis is important. In young children with a sporadic form of multiple café-au-lait macules with or without freckling and no other manifestations of NF1 these 2 conditions cannot be differentiated based on clinical examination. Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate the 2 conditions. Other less frequent conditions with café-au-lait macules are Noonan syndrome with multiple lentigines, constitutional mismatch repair deficiency and McCune-Albright syndrome.
神经纤维瘤病 1 型（NF1）是最常见的疾病，其特征是多发性咖啡牛奶斑。大多数患有这种常染色体显性疾病的人还具有其他特征，如皮肤褶皱雀斑、虹膜 Lisch 结节以及良性或恶性周围神经鞘瘤。Legius 综合征是一种较少见的常染色体显性疾病，具有相似的多发性咖啡牛奶斑和皮肤褶皱雀斑。Legius 综合征的特点不是肿瘤风险增加，正确的诊断很重要。在有或没有雀斑的散发性多发性咖啡牛奶斑的幼儿中，且没有 NF1 的其他表现，这两种疾病不能仅基于临床检查来区分。通常需要对 NF1 和 SPRED1 基因进行分子分析来区分这两种疾病。其他具有咖啡牛奶斑的较少见疾病包括多发性黑子综合征、错配修复缺陷综合征和 McCune-Albright 综合征。
