Abstract
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant monogenic disease characterized clinically by symmetrical diffuse palmoplantar hyperkeratosis, and histologically by epidermolytic hyperkeratosis. Recent studies have demonstrated that keratin-9 (KRT9) and keratin-1 (KRT1) gene mutations are responsible for EPPK. In addition, environment and capecitabine may also contribute to its occurrence. At present, EPPK is mainly managed with symptomatic treatment. Small interfering RNAs (siRNAs) have gradually become a research hotspot, which may provide a basis for gene therapy of EPPK. With further insights into the molecular basis of this disease, its prenatal diagnosis has advanced continuously. Key words: Keratoderma, palmoplantar, epidermolytic; Epidemiology; Heredity; Autosomal dominant; Pathology, clinical
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