[血管痣样和青皮肤斑：Ⅰ型神经纤维瘤病的早期皮肤表现]
[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].
作者信息
Vabres P, de Lonlay P, Amiel J, Lyonnet S, Munnich A, de Prost Y
机构信息
Service de Dermatologie, Hôpital Necker-Enfants-Malades, Paris.
出版信息
Ann Dermatol Venereol. 1998 Sep;125(9):593-4.
BACKGROUND
Diagnosis of neurofibromatosis type I (NF-1) relies on the NIH consensus conference criteria. However, because of delayed penetrance, they are of limited value in infancy or early childhood. Less frequent signs, namely blue-red and fusco-ceruleus macules, may be clues for diagnosis.
CASE REPORTS
We report on two children, aged 2 1/2 and 5, in whom these cutaneous findings were present early in childhood. In addition, they had sufficient criteria for NF1.
DISCUSSION
These cutaneous signs, although infrequently reported, are present early in life. Hence they may be useful clues for diagnosis of NF-1 in childhood.
背景
I型神经纤维瘤病（NF-1）的诊断依赖于美国国立卫生研究院（NIH）的共识会议标准。然而，由于其外显延迟，这些标准在婴儿期或幼儿期价值有限。不太常见的体征，即蓝红色斑和暗蓝痣，可能是诊断线索。
病例报告
我们报告了两名儿童，年龄分别为2岁半和5岁，在儿童早期出现了这些皮肤表现。此外，他们具备足够的NF1诊断标准。
讨论
这些皮肤体征虽然报道较少，但在生命早期就会出现。因此，它们可能是儿童期NF-1诊断的有用线索。
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