Conditions / Skin
autosomal recessive congenital ichthyosis 9
info · Skin · ICD-10: Q80.2
An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3
An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
Signs and symptoms
- Palmar hyperlinearity
- Eclabion
- Epidermal acanthosis
- Ectropion
- Erythroderma
- Hypohidrosis
- Orthokeratosis
- Congenital nonbullous ichthyosiform erythroderma
- Hyperkeratosis
- Hypergranulosis
Also known as: ARCI9