Congenital ichthyosis is an autosomal recessive disorder of variable severity.  Affected patients are born with a collodion membrane which is shed one or two weeks after birth, making apparent the presence of scales all over the body.  Patients may have palmoplantar keratoderma.  Affected babies are often born prematurely.  Prevalence is estimated approximately at 1/100,000-1/1,000,000 individuals.  Congenital Ichthyosis is a genetically heterogeneous disease, and several subtypes of the condition have been identified based on defects in different genes.  ARCI4A is a rare subtype that is caused due to defects in lipid transport in skin cells. 

Diagnosis of the condition is through clinical examination and molecular genetic testing. Management is based on daily use of emollients or keratolytics.  Oral retinoids are useful in severe forms of the disease.  Affected neonates rarely survive infancy, and those who do develop severe non-bullous congenital ichthyosiform erythroderma.

Mutations in the ABCA12 gene are responsible for causing ARCI4A.  This gene encodes an ATP-binding cassette (ABC) transporter, which is known to be involved in active lipid transport, especially in skin cells.  Studies on animal models have suggested that the protein plays a critical role in the formation of the skin's permeability barrier via an effect on the generation of a highly specialized class of ceramide esters.