Suga Y, Duncan K O, Heald P W, Roop D R
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
J Invest Dermatol. 1998 Dec;111(6):1220-3. doi: 10.1046/j.1523-1747.1998.00451.x.
Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma that has recently been described in two separate kindreds. Individuals with this variant present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. Characteristically, they also develop intermittent bouts of annular and polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. We now describe a third kindred with annular epidermolytic ichthyosis. Molecular analysis of this family revealed a novel mutation resulting in an isoleucine to threonine substitution at residue 107 (codon 446) within the highly conserved helix termination motif at the end of the rod domain of keratin 10.
环状表皮松解性鱼鳞病是大疱性先天性鱼鳞病样红皮病的一种独特表型变异，最近在两个独立的家族中被描述。患有这种变异的个体在幼儿期表现为大疱性鱼鳞病，在后期年龄阶段，屈侧区域和伸侧表面出现角化过度的苔藓化斑块。其特征还包括，他们在躯干和近端肢体上还会出现间歇性的环状和多环状红斑鳞屑性斑块。我们现在描述第三个患有环状表皮松解性鱼鳞病的家族。对这个家族的分子分析揭示了一个新的突变，该突变导致角蛋白10杆状结构域末端高度保守的螺旋终止基序内第107位残基（密码子446）处异亮氨酸替换为苏氨酸。
