Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, relationship between genotype and phenotype is complex. Objective To analyze clinical manifestations gene Chinese patients with KPI. Methods Clinical data were collected 13 children diagnosed peripheral blood DNA samples extracted both their parents Next-generation sequencing was performed using congenital multi-gene panel, selected variants further validated Sanger method. Results Genetic analysis identified missense either KRT1 ten exhibiting varying degrees severity distinct features epidermolytic ichthyosis. A hotspot mutation KRT2 one patient superficial Additionally, two truncation detected, leading to development generalized ichthyosiform erythroderma. Ear malformation ectropion at birth, scalp involvement, palmoplantar hyperkeratosis observed as early signs confetti. Interpretation We analyzed genotype-phenotype correlations revealing that types locations different are associated phenotypic characteristics. Oral acitretin could be considered treatment option for severe an appropriate dosage timing.