Conditions / Skin
autosomal recessive congenital ichthyosis 10
info · Skin · ICD-10: Q80.2
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
Signs and symptoms
- Erythroderma
- Congenital nonbullous ichthyosiform erythroderma
- Palmoplantar keratoderma
- Generalized ichthyosis
- Hypergranulosis
- Orthokeratotic hyperkeratosis
- Hyperkeratosis
Also known as: ARCI10