Conditions / Skin
autosomal recessive congenital ichthyosis 8
info · Skin · ICD-10: Q80.2
An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q
An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
Signs and symptoms
- Ichthyosis
- Hypergranulosis
- Epidermal acanthosis
- Orthokeratosis
- Hyperkeratosis
- Erythema
Also known as: ARCI8; lamellar ichthyosis 4; late-onset lamellar ichthyosis