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Autosomal recessive congenital ichthyosis 5

rare

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.

Identifiers
MONDO:0011485 OMIM:604777
Causal genes
CYP4F22
Part of
Autosomal recessive congenital ichthyosisLamellar ichthyosis
Also known as
ARCI5 · autosomal recessive congenital ichthyosis type 5 · ichthyosis congenita 3 · ichthyosis congenita III · ichthyosis lamellar 3

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