Abstract: Congenital ichthyosis is a group of hereditary diseases characterized by epidermal hyperplasia, hyperkeratosis, and desquamate. It is a rare disease in the neonatal period. Herein, we report a case of congenital non-bullous ichthyosis erythroderma. The newborn presented with ectropion of eyelids, collapse of the nasal bridge, auricle hypoplasia and eclabium. Parchment-like skin changes were seen all over the whole body. The compound heterozygotes mutation of ALOX12B c.1409C>T(p.A470V) and c.2073C>A (p.D691E)  were identified by  whole exome sequencin and Sanger sequencing. The baby was given heat preservation, skin hydration, external application of oily ointment and antibiotic treatment.

Key words: neonate, nonbullous congenital ichthyosiform erythroderma, ALOX12B gene