Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing
复制标题
DOI：
10.1111/j.1365-2133.2005.06598.x
复制
发表时间：
2005-06-01
影响因子：
10.3
通讯作者：
Shimizu, H
中科院分区：
文献类型：
--
作者：
Akiyama, M;Tsuji-Abe, Y;Shimizu, H
西门子大疱性鱼鳞病（IBS，MIM 146800）是一种独特的先天性鱼鳞病，其特征是弯曲区域轻度表皮角化过度、水疱形成以及过度角化皮肤表面剥脱区域的发展。临床上很难区分严重的 IBS 和轻度大疱性先天性鱼鳞病样红皮病 (BCIE, MIM 113800)。在目前的文献中，尽管在 1994 年首次发现 K2e 突变之前只报道了 5 个 IBS 家族，但已报道了 19 个具有角蛋白 2e (K2e) 突变的 IBS 家族。我们研究了来自三个日本 IBS 家族的 4 名患者。他们之前曾被误诊为 BCIE，然后在突变检测后做出正确诊断。为了检测致病性突变，我们对患者和健康家庭成员中编码 K2e 的 KRT2E 的整个编码区进行了直接测序。在该家族中检测到杆结构域保守2B螺旋终止基序内的K2e突变、1469T→C转变(L490P)和1477G→A转变(E493K)，并且4例确诊为IBS。目前的结果表明，IBS 并不像以前认为的那样罕见，现在可以通过突变分析进行准确的诊断。
Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic skin. It is clinically difficult to distinguish severe IBS from mild bullous congenital ichthyosiform erythroderma (BCIE, MIM 113800). In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994. We studied four patients from three Japanese IBS families. They had previously been misdiagnosed as having BCIE before the correct diagnosis was made after mutation detection. To detect the pathogenic mutations, we performed direct sequencing of the entire coding regions of KRT2E encoding K2e in the patients and healthy family members. K2e mutations, a 1469T -> C transition (L490P) and a 1477G -> A transition (E493K) within the conserved 2B helix termination motif of the rod domain were detected in the families and the definite diagnosis of IBS was made in the four cases. The present results indicate that IBS is not such a rare entity as was previously thought, and accurate diagnosis is now available by mutation analysis.