A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
复制标题
单纯性大疱性表皮松解症角蛋白 14 螺旋起始基序中高度保守的疏水残基处的 Leu122 到 Phe 的新突变。
DOI：
10.1016/0923-1811(94)90339-5
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发表时间：
1994
影响因子：
3.5
通讯作者：
H. Yasuno
中科院分区：
文献类型：
--
作者：
K. Yamanishi;M. Matsuki;K. Konishi;H. Yasuno
单纯大疱性表皮病（EBS）是一种常染色体遗传的遗传性皮肤病，其特征是轻微创伤后基底角质形成细胞的机械脆性导致皮肤水疱（1）。EBS分为三种主要亚型（2）。广义Kobner型、局限性Weber-Cockayne型和疱疹样Dowling-Meara型。Kobner型的特点是在创伤部位或衣服摩擦点处出现全身性水泡，在温暖的天气和掌跖多汗症中加剧，但头发，牙齿和指甲是正常的（3）。相比之下，Weber-Cockayne型水疱仅发生在手掌和脚底（4，5）。在最严重的Dowling-Meara型中，躯干以及手掌和足底自发发生广泛的疱疹样水疱，累及粘膜，指甲脱落和粟粒形成（6）。
Epidermolysis bullosa simplex (EBS) is a hereditary skin disease with autosomal inheritance, characterized by blisters of the skin due to mechanical fragility of basal keratinocytes after minor trauma (1). EBS is classified into three major subtypes (2). The generalized Kobner type, the localized Weber-Cockayne type, and the herpetiform Dowling-Meara type. The Kobner type is characterized by generalized blistering at a traumatized site or friction point from clothing, which is exacerbated in warm weather and palmoplantar hyperhidrosis, but hair, teeth and nails are normal (3). In contrast, the blisters of the Weber-Cockayne type occur only on the palms and soles (4, 5). In the most severe Dowling-Meara type, extensive herpetiform blistering occurs spontaneously on the trunk as well as palms and soles with involvement of mucous membrane, nail shedding and formation of milia (6).