Autosomal recessive congenital ichthyosis (ARCI) is caused by mutation in the genes, encoding keratinocyte transglutaminase (TGM1; 190195) on chromosome 14q11.2, ALOX12B gene (OMIM603741) on chromosome 17p13.1, ALOXE3 gene (OMIM607206) on chromosome 17p13.1, ABCA12 gene (OMIM607800) on chromosome 2q35, CYP4F22 gene (OMIM611495) on chromosome 19p13, NIPAL4 gene (ichthyin; OMIM609383) on chromosome 5q33, LIPN gene (OMIM613924) on chromosome 10q23, CERS3 gene (OMIM615276) on chromosome 15q26, and PNPLA1 gene (OMIM612121) on chromosome 6p21. Here, PNPLA1 is linked to autosomal recessive congenital ichthyosis.