/autosomal recessive congenital ichthyosis 5

autosomal recessive congenital ichthyosis 5

Rare Disease

MONDO:0011485

Also Known As

ARCI5autosomal recessive congenital ichthyosis 5autosomal recessive congenital ichthyosis type 5autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosisichthyosis, congenital, autosomal recessive type 5LI3, formerlyNNCIichthyosis congenita 3ichthyosis congenita IIIichthyosis lamellar 3ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessiveichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessiveichthyosis, congenital, autosomal recessive 5ichthyosis, lamellar, 3ichthyosis, lamellar, 3, formerlylamellar ichthyosis, type 3type 3 lamellar ichthyosis

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.