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