Various skin abnormalities, such as hyperkeratosis, abnormality of the plantar skin of the foot, palmoplantar keratoderma, subcutaneous nodules and erythema, were associated with GJA1, KRT1, KRT2, PSEN1 and INSR. The gene discussed is KRT2; the disease is epidermolytic palmoplantar keratoderma, 1.