Peter Rout Denice, Nair Anushka, Gupta Anand, Kumar Piyush
Amity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India.
Clin Cosmet Investig Dermatol. 2019 May 8;12:333-344. doi: 10.2147/CCID.S166849. eCollection 2019.
Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder which has been observed to affect 1 in over 200,000 infants as a consequence of a significant mutation in the genes responsible for the keratin proteins, mostly keratin 1 and 10. The features present at birth include erythema and blistering. In adults, the hallmarks include hyperkeratosis, erosions, and blisters. The major symptoms including xerosis, pruritus, and painful fissuring lead not only to cosmetic problems but also stress, inferiority complex and other psychological conditions. While clinical inspection followed by confirmatory tests including histopathology and electron microscopic assessment is used for diagnosis, treatment modalities can be further improved for better diagnosis. This article reviews subtypes of ichthyosis, with a focus on EHK, genetics behind the disease, recently reported mutations, the existing diagnostics and treatments for the same and potential of new modalities in diagnosis/treatment.
表皮松解性角化过度症（EHK），早期称为大疱性先天性鱼鳞病样红皮病，是一种以常染色体显性遗传且罕见为特征的皮肤疾病。据观察，由于负责角蛋白的基因发生重大突变，主要是角蛋白1和角蛋白10，每200,000多名婴儿中就有1人受其影响。出生时出现的特征包括红斑和水疱。在成年人中，其特征包括角化过度、糜烂和水疱。主要症状包括皮肤干燥、瘙痒和疼痛性皲裂，不仅会导致美容问题，还会引发压力、自卑情结和其他心理状况。虽然通过包括组织病理学和电子显微镜评估在内的确诊检查进行临床检查用于诊断，但治疗方式仍可进一步改进以实现更好的诊断。本文综述了鱼鳞病的亚型，重点关注EHK、该疾病背后的遗传学、最近报道的突变、现有的诊断和治疗方法以及新诊断/治疗方法的潜力。
