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Abstract：
Keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the GJB2 gene encoding connexin 26, a component of transmembrane hemichannels which form gap junction channels, critical for cell-cell communication. Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type allele only. The patients\' cutaneous manifestations were strikingly different illustrating the wide spectrum of phenotype of these patients, even with the same GJB2 mutation. One of the patients was treated with acitretin with dramatic improvement in his skin findings, illustrating the role of oral acitretin in treatment of patients with KID syndrome. Collectively, these patients attest to the phenotypic spectrum of KID syndrome, with therapeutic perspective.
摘要：
角膜炎-鱼鳞病-耳聋（KID）综合征是由编码连接蛋白26的GJB2基因突变引起的，连接蛋白26是形成间隙连接通道的跨膜半通道的组成部分，对于细胞间通讯至关重要。这里,我们报告了来自两个不同家庭的具有相同GJB2突变的KID综合征的两名患者（p.Asp50Asn）；在两种情况下，突变都是从头的，因为父母只描述了野生型等位基因。患者的皮肤表现明显不同，说明了这些患者的广泛表型，即使具有相同的GJB2突变。其中一名患者接受了阿维A治疗，皮肤发现得到了显着改善，说明口服阿维A在治疗KID综合征患者中的作用。总的来说，这些患者证明了KID综合征的表型谱，从治疗的角度来看。
