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沿Blaschko线分布的色素脱失性多毛症伴脑和眼畸形:一种来自表皮痣综合征组的新的神经皮肤常染色体致死性基因综合征?

Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

作者信息

Schauder S, Hanefeld F, Noske U M, Zoll B

机构信息

Department of Dermatology, Georg-August-University Goettingen, von-Siebold-Strasse 3, D-37075 Goettingen, Germany.

出版信息

Br J Dermatol. 2000 Jun;142(6):1204-7. doi: 10.1046/j.1365-2133.2000.03551.x.

Abstract

The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes.

摘要

布拉斯科线代表了镶嵌现象的一种皮肤模式,之后会出现各种皮肤疾病。偶尔也会伴有影响源自胚胎外胚层和中胚层的其他组织的发育异常。我们描述了一名30岁男性,其沿着布拉斯科线出现色素脱失、双侧多毛症以及毛囊口扩张,并伴有脑和眼畸形。这些发现提示了一种来自表皮痣综合征组的此前未报道的神经皮肤常染色体致死性基因综合征。

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