Conditions / Skin
autosomal recessive congenital ichthyosis 6
info · Skin · ICD-10: Q80.2
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
Signs and symptoms
- Palmoplantar keratoderma
- Generalized ichthyosis
- Epidermal acanthosis
- Orthokeratosis
- Dry skin
- Scaling skin
- Congenital nonbullous ichthyosiform erythroderma
- Parakeratosis
- Erythroderma
- Hyperkeratosis
Also known as: ARCI6