Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Presenting as Mild Nonbullous Congenital Ichthyosiform Erythroderma.

Abstract

Autosomal recessive congenital ichthyosis (ARCI) comprises a group of rare, clinically heterogeneous disorders of keratinization, characterized by hyperkeratosis, abnormal skin scaling, and a variable degree of erythroderma. Affected infants are most often born encased in a collodion membrane, which is usually shed within 2-4 weeks, revealing the underlying skin condition. To date, at least 14 genes have been identified as causative for ARCI, and phenotypes associated with mutation of different genes may overlap. Herein we report the case of an infant with ARCI due to heterozygous pathogenic mutations in the 12(R)-lipoxygenase (ALOX12B) gene.