Autosomal recessive congenital ichthyosis 5
Autosomal recessive congenital ichthyosis 5
Definition
An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
Also known as ARCI5, autosomal recessive congenital ichthyosis 5, autosomal recessive congenital ichthyosis type 5, ichthyosis, congenital, autosomal recessive type 5 — per MONDO