However, in the PPK2 family with the AQP5 (NM_001651.4): c.103T>G (p.(Trp35Gly)) variant, all affected members from three generations had a more severe skin lesion in mutilating keratoderma, the stratum corneum was swollen and had a white spongy appearance. The gene discussed is AQP5; the disease is Palmoplantar keratoderma.