O-12: Mutation in Ichthyn/NIPAL4 Gene in a large Iranian Pedigree Afflicted with Autosomal Recessive Congenital Ichthyosis with Yellowish Palmoplantar Keratoderma
Ichthyosis is genetically and clinically heterogeneous group of cornification disorder that characterized by scaling of whole body skin. A subgroup of Ichthyosis is Autosomal recessive congenital ichthyosis (ARCI). Typically, ARCI is classified to two subgroups; lamellar ichthyosis(LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). To date, are identified nine loci and seven genes for ARCI. These genes are accounted for 70-75% of patients.