Conditions / Skin
autosomal recessive congenital ichthyosis 14
info · Skin
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
Signs and symptoms
- Scaling skin
- Orthokeratotic hyperkeratosis
- Erythema
- Hyperkeratosis
- Congenital nonbullous ichthyosiform erythroderma
- Pruritus