Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by increased skin and mucous membrane fragility. Most cases are caused by mutations in keratin 5 (KRT5) and keratin 14 (KRT14). Mutations of these genes result in cytoskeletal disruption of the basal keratinocytes. Gross and histopathologic findings of 2 clinically affected homozygous rhesus macaques with an insertion variant mutation in KRT5 are described and compared with 6 deceased phenotypically normal animals that were heterozygous for the KRT5 insertion variant. Animals that were homozygous for the KRT5 insertion variant were stillborn and had widespread loss of the epidermis. Microscopic examination confirmed severe ulceration and basal cell vacuolation with basilar vesicle formation in the remaining intact epidermis. Immunohistochemistry for cytokeratin 5 demonstrated lack of epidermal immunoreactivity in homozygotes. DNA sequencing identified a 34–base pair insertion variant in exon 5 of the KRT5 gene. To our knowledge, this is the first report of epidermolysis bullosa in rhesus macaques.

大疱表皮松解症（EBS）是一种遗传性皮肤病，其特征是皮肤和粘膜脆性增加。大多数情况是由角蛋白5（KRT5）和角蛋白14（KRT14）突变引起的。这些基因的突变导致基底角质形成细胞的细胞骨架破坏。描述了2例在KRT5中具有插入变异突变的临床上受影响的纯合恒河猴的肉眼和组织病理学发现，并将其与6例已死亡的表型正常动物相比，这些动物对KRT5插入变异是杂合的。KRT5纯合的动物插入变异是死胎，并且表皮广泛分布。镜检证实在剩余的完整表皮中有严重的溃疡和基底细胞空泡形成基底小泡。细胞角蛋白5的免疫组织化学显示纯合子中缺乏表皮免疫反应性。DNA测序鉴定出KRT5基因第5外显子中有34个碱基对的插入变异。据我们所知，这是恒河猴中大疱表皮松解的首次报道。