Detailed clinical and physical examination revealed abnormal phenotypes such as abnormal scaling and erythema of the skin, keratoderma and hyperlinearity of the palms and soles, alopecia, pruritus and atopic dermatitis, etc., caused by pathogenic variants in four different genes (TGM, SULT2B1, SPINK5, and FLG) identified by WES. This evidence concerns the gene SPINK5 and Pruritus.