Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734]. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.
