Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

The study investigated a unique case of keratinopathic ichthyosis in six individuals across four generations, caused by a large 2.2 kb intragenic deletion in the KRT1 gene. This genetic alteration led to symptoms resembling ichthyosis with confetti and epidermolytic ichthyosis, including erythroderma, confetti-like skin spots, and palmoplantar keratoderma, but no hair abnormalities. The deletion was not found in existing genetic databases, underscoring the complexity of keratinopathic ichthyoses and the effectiveness of next-generation sequencing in detecting mutations that traditional methods might overlook.