O-12: Mutation in Ichthyn/NIPAL4 Gene in a large Iranian Pedigree Afflicted with Autosomal Recessive Congenital Ichthyosis with Yellowish Palmoplantar Keratoderma


Alavi A *, Elahi E , Mirshams Shahshahani M , Inanloo K , Moazzeni HR ,

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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.