Autosomal recessive congenital ichthyosis 7
Autosomal recessive congenital ichthyosis 7
Definition
An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.
Also known as ARCI7, autosomal recessive congenital ichthyosis type 7 — per MONDO