At the beginning, Netherton syndrome and Erythrokeratoderma variabilis phenotypes were suspected, but no hair shaft abnormalities were found and no mutations in SPINK5 and EKV genes (GJB2, GJB3, GJB4, GJB6 and KDSR) were identified (data not shown). The gene discussed is GJB6; the disease is Netherton syndrome.