Conditions / Skin
autosomal recessive congenital ichthyosis 5
info · Skin · ICD-10: Q80.2
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.
Signs and symptoms
- Palmar hyperlinearity
- White scaling skin
- Parakeratosis
- Acanthocytosis
- Epidermal acanthosis
- Congenital nonbullous ichthyosiform erythroderma
- Erythroderma
- Orthokeratosis
- Palmoplantar keratoderma
Also known as: ARCI5; autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis